Neonatal Medicine

Pediatricians play many roles as they fulfill their duties and responsibilities. Among these is the role of trusted counselor.

A pediatrician is a risk manager. Not the risk manager at a brokerage firm assessing financial risks. Not the hospital lawyer providing legal advice to minimize lawsuits against the hospital. The pediatrician, as risk manager, is a fiduciary, confidant, partner, and guide for parents seeking to protect and maximize the health of their children.

The practice of pediatrics deals with many low-probability, high-impact threats. This begins before birth. The obstetrician has already ordered a litany of prenatal screens, blood tests, and ultrasounds. Many of these have a positive predictive value of less than 20%. That means the alarming positive results are wrong more than 80% of the time. Tests done purportedly to reassure the parents are likely to falsely terrify them. This devilish process continues immediately after birth. The newborns are subjected to a wide variety of screening tests that they must pass before being stamped USDA Prime baby. Early in my career, a thorough newborn physical exam was the key means of identifying problems. Modern medicine employs a wide variety of blood tests, a hearing screen, a pulse ox check, and a transcutaneous bilirubin test before discharge. It is a gauntlet that few escape unscathed. Even the totally normal infant is going to flunk a handful of these screens. Then the nursery doctor is ready to erect additional hoops to jump through. Too big or too small? You need glucose checks. Breech presentation? A hip ultrasound. Too long in labor? Blood tests. Too pale or too ruddy? Blood tests. Not acting quite right? Temperature too high? Temperature too low? Too irritable? Too lethargic? Baby, you’ve hit the jackpot for extra blood tests, an app to estimate the risk of early-onset sepsis, and maybe a trip to the NICU.

Many of these protocols have poor positive predictive value results that are not easy to explain to lay people. The ideas are not easily taught to medical students. Those results can be even harder to communicate to new parents with health care careers. A little knowledge goes a long ways toward long, sleepless nights of worrying even though the baby is just fine. Even cute. Snuggly. A good baby! Parents, hug your baby! Feed the baby! Let the professional do most of the worrying.

What does a professional worrier offer? First, a comprehension of the science. The professional understands sensitivity and specificity, false-positive rates, prevalence, and positive predictive value. Second, particular knowledge of the various tests involved, including the confirmatory tests and the risk-benefit of treatment. Third, experienced clinical judgment that knows that lotteries are bad investments even though two people are splitting a $600 million lottery win this week. Most people don’t emotionally cope with small risks. Fourth, the ability to do values clarification. There is not a one-size-fits-all bedside approach in pediatrics. Parents have differing expectations, differing levels of risk aversion, and different methods for handling anxiety. First-time parents may be very risk intolerant with their baby. Some people deal with fear by seeking more information. Others are looking for evidence that the expert physician is committed to compassionately providing whatever is best for their child.

How has medicine evolved recently? I will highlight four items. First, as described earlier, there has been a large increase in the number of these screens that will be failed. Typical office practice continues the methodology with well child exams and developmental screening. Second, many screens have been introduced that have very low positive predictive value. This leads to many anxious parents who will benefit from pediatricians with the bedside manner to guide the parents and their precious baby through this maze of scientific interventions. The science is difficult enough to master during training. It takes more time to learn the art of counseling parents, listening to their concerns, and earning their trust. That art is practiced in face-to-face encounters with the parents. The classic approach to residency training limits the opportunity to observe and mentor the knowledge, skills, and empathy of a good bedside manner.

A third evolution, more recent, has been the widespread pollution of scientific knowledge with misinformation and disinformation through social media. I addressed that issue in my columns in January and March 2019.

Fourth, most recently, I believe the pandemic has emphasized to the public that nothing in life is totally risk free. Extreme efforts to reduce risk produce unwanted consequences. There is a window of opportunity here to work with parents and patients to build relationships that help people to assess risks and make more rational and beneficial choices. For example, when is the risk of meningitis in a febrile young infant low enough to manage at home? The risk will never be zero. But admission to the hospital “just in case” is not risk free either. People are acutely aware of that right now.

Health care professionals can position themselves as the trusted source of health information specific to a particular person’s situation. Health care professionals can be competent, committed, and compassionate listeners to what really worries people. In this way, we manage risk. This role also involves addressing the mental health crisis causing so much suicide and addiction. Severe problems should be referred to specialists, but I anticipate in the near future that most pediatricians will require more skills dealing with risk and anxiety rather than microbes.
 

Dr. Powell is a retired pediatric hospitalist and clinical ethics consultant living in St. Louis. Email him at pdnews@mdedge.com.

Pediatricians play many roles as they fulfill their duties and responsibilities. Among these is the role of trusted counselor.

A pediatrician is a risk manager. Not the risk manager at a brokerage firm assessing financial risks. Not the hospital lawyer providing legal advice to minimize lawsuits against the hospital. The pediatrician, as risk manager, is a fiduciary, confidant, partner, and guide for parents seeking to protect and maximize the health of their children.

The practice of pediatrics deals with many low-probability, high-impact threats. This begins before birth. The obstetrician has already ordered a litany of prenatal screens, blood tests, and ultrasounds. Many of these have a positive predictive value of less than 20%. That means the alarming positive results are wrong more than 80% of the time. Tests done purportedly to reassure the parents are likely to falsely terrify them. This devilish process continues immediately after birth. The newborns are subjected to a wide variety of screening tests that they must pass before being stamped USDA Prime baby. Early in my career, a thorough newborn physical exam was the key means of identifying problems. Modern medicine employs a wide variety of blood tests, a hearing screen, a pulse ox check, and a transcutaneous bilirubin test before discharge. It is a gauntlet that few escape unscathed. Even the totally normal infant is going to flunk a handful of these screens. Then the nursery doctor is ready to erect additional hoops to jump through. Too big or too small? You need glucose checks. Breech presentation? A hip ultrasound. Too long in labor? Blood tests. Too pale or too ruddy? Blood tests. Not acting quite right? Temperature too high? Temperature too low? Too irritable? Too lethargic? Baby, you’ve hit the jackpot for extra blood tests, an app to estimate the risk of early-onset sepsis, and maybe a trip to the NICU.

Many of these protocols have poor positive predictive value results that are not easy to explain to lay people. The ideas are not easily taught to medical students. Those results can be even harder to communicate to new parents with health care careers. A little knowledge goes a long ways toward long, sleepless nights of worrying even though the baby is just fine. Even cute. Snuggly. A good baby! Parents, hug your baby! Feed the baby! Let the professional do most of the worrying.

What does a professional worrier offer? First, a comprehension of the science. The professional understands sensitivity and specificity, false-positive rates, prevalence, and positive predictive value. Second, particular knowledge of the various tests involved, including the confirmatory tests and the risk-benefit of treatment. Third, experienced clinical judgment that knows that lotteries are bad investments even though two people are splitting a $600 million lottery win this week. Most people don’t emotionally cope with small risks. Fourth, the ability to do values clarification. There is not a one-size-fits-all bedside approach in pediatrics. Parents have differing expectations, differing levels of risk aversion, and different methods for handling anxiety. First-time parents may be very risk intolerant with their baby. Some people deal with fear by seeking more information. Others are looking for evidence that the expert physician is committed to compassionately providing whatever is best for their child.

How has medicine evolved recently? I will highlight four items. First, as described earlier, there has been a large increase in the number of these screens that will be failed. Typical office practice continues the methodology with well child exams and developmental screening. Second, many screens have been introduced that have very low positive predictive value. This leads to many anxious parents who will benefit from pediatricians with the bedside manner to guide the parents and their precious baby through this maze of scientific interventions. The science is difficult enough to master during training. It takes more time to learn the art of counseling parents, listening to their concerns, and earning their trust. That art is practiced in face-to-face encounters with the parents. The classic approach to residency training limits the opportunity to observe and mentor the knowledge, skills, and empathy of a good bedside manner.

A third evolution, more recent, has been the widespread pollution of scientific knowledge with misinformation and disinformation through social media. I addressed that issue in my columns in January and March 2019.

Fourth, most recently, I believe the pandemic has emphasized to the public that nothing in life is totally risk free. Extreme efforts to reduce risk produce unwanted consequences. There is a window of opportunity here to work with parents and patients to build relationships that help people to assess risks and make more rational and beneficial choices. For example, when is the risk of meningitis in a febrile young infant low enough to manage at home? The risk will never be zero. But admission to the hospital “just in case” is not risk free either. People are acutely aware of that right now.

Health care professionals can position themselves as the trusted source of health information specific to a particular person’s situation. Health care professionals can be competent, committed, and compassionate listeners to what really worries people. In this way, we manage risk. This role also involves addressing the mental health crisis causing so much suicide and addiction. Severe problems should be referred to specialists, but I anticipate in the near future that most pediatricians will require more skills dealing with risk and anxiety rather than microbes.
 

Dr. Powell is a retired pediatric hospitalist and clinical ethics consultant living in St. Louis. Email him at pdnews@mdedge.com.

Pediatricians play many roles as they fulfill their duties and responsibilities. Among these is the role of trusted counselor.

A pediatrician is a risk manager. Not the risk manager at a brokerage firm assessing financial risks. Not the hospital lawyer providing legal advice to minimize lawsuits against the hospital. The pediatrician, as risk manager, is a fiduciary, confidant, partner, and guide for parents seeking to protect and maximize the health of their children.

The practice of pediatrics deals with many low-probability, high-impact threats. This begins before birth. The obstetrician has already ordered a litany of prenatal screens, blood tests, and ultrasounds. Many of these have a positive predictive value of less than 20%. That means the alarming positive results are wrong more than 80% of the time. Tests done purportedly to reassure the parents are likely to falsely terrify them. This devilish process continues immediately after birth. The newborns are subjected to a wide variety of screening tests that they must pass before being stamped USDA Prime baby. Early in my career, a thorough newborn physical exam was the key means of identifying problems. Modern medicine employs a wide variety of blood tests, a hearing screen, a pulse ox check, and a transcutaneous bilirubin test before discharge. It is a gauntlet that few escape unscathed. Even the totally normal infant is going to flunk a handful of these screens. Then the nursery doctor is ready to erect additional hoops to jump through. Too big or too small? You need glucose checks. Breech presentation? A hip ultrasound. Too long in labor? Blood tests. Too pale or too ruddy? Blood tests. Not acting quite right? Temperature too high? Temperature too low? Too irritable? Too lethargic? Baby, you’ve hit the jackpot for extra blood tests, an app to estimate the risk of early-onset sepsis, and maybe a trip to the NICU.

Many of these protocols have poor positive predictive value results that are not easy to explain to lay people. The ideas are not easily taught to medical students. Those results can be even harder to communicate to new parents with health care careers. A little knowledge goes a long ways toward long, sleepless nights of worrying even though the baby is just fine. Even cute. Snuggly. A good baby! Parents, hug your baby! Feed the baby! Let the professional do most of the worrying.

What does a professional worrier offer? First, a comprehension of the science. The professional understands sensitivity and specificity, false-positive rates, prevalence, and positive predictive value. Second, particular knowledge of the various tests involved, including the confirmatory tests and the risk-benefit of treatment. Third, experienced clinical judgment that knows that lotteries are bad investments even though two people are splitting a $600 million lottery win this week. Most people don’t emotionally cope with small risks. Fourth, the ability to do values clarification. There is not a one-size-fits-all bedside approach in pediatrics. Parents have differing expectations, differing levels of risk aversion, and different methods for handling anxiety. First-time parents may be very risk intolerant with their baby. Some people deal with fear by seeking more information. Others are looking for evidence that the expert physician is committed to compassionately providing whatever is best for their child.

How has medicine evolved recently? I will highlight four items. First, as described earlier, there has been a large increase in the number of these screens that will be failed. Typical office practice continues the methodology with well child exams and developmental screening. Second, many screens have been introduced that have very low positive predictive value. This leads to many anxious parents who will benefit from pediatricians with the bedside manner to guide the parents and their precious baby through this maze of scientific interventions. The science is difficult enough to master during training. It takes more time to learn the art of counseling parents, listening to their concerns, and earning their trust. That art is practiced in face-to-face encounters with the parents. The classic approach to residency training limits the opportunity to observe and mentor the knowledge, skills, and empathy of a good bedside manner.

A third evolution, more recent, has been the widespread pollution of scientific knowledge with misinformation and disinformation through social media. I addressed that issue in my columns in January and March 2019.

Fourth, most recently, I believe the pandemic has emphasized to the public that nothing in life is totally risk free. Extreme efforts to reduce risk produce unwanted consequences. There is a window of opportunity here to work with parents and patients to build relationships that help people to assess risks and make more rational and beneficial choices. For example, when is the risk of meningitis in a febrile young infant low enough to manage at home? The risk will never be zero. But admission to the hospital “just in case” is not risk free either. People are acutely aware of that right now.

Health care professionals can position themselves as the trusted source of health information specific to a particular person’s situation. Health care professionals can be competent, committed, and compassionate listeners to what really worries people. In this way, we manage risk. This role also involves addressing the mental health crisis causing so much suicide and addiction. Severe problems should be referred to specialists, but I anticipate in the near future that most pediatricians will require more skills dealing with risk and anxiety rather than microbes.
 

Dr. Powell is a retired pediatric hospitalist and clinical ethics consultant living in St. Louis. Email him at pdnews@mdedge.com.

Delayed umbilical cord clamping for at least 60 seconds after birth significantly reduced death or disability in infants of less than 30 weeks’ gestation, according to data from nearly 1,500 infants.

The burden of disability and mortality for babies born before 30 weeks’ gestation remains high, especially in low- and middle-income countries, wrote Kristy P. Robledo, PhD, of the University of Sydney, Australia, and colleagues. Delayed clamping of the umbilical cord is a simple procedure that may improve mortality in this population, but more research is needed; recommended times to delayed clamping range from 30 seconds to 3 minutes, they noted.

In a study published in The Lancet Child & Adolescent Health, the researchers randomized 767 very preterm infants to delayed clamping at least 60 seconds after birth and 764 to immediate clamping. Of these, 384 were multiple births (who were individually randomized), 862 were male, and 505 were born before 27 weeks’ gestation. The primary outcome was death or disability at 2 years of age. Major disability was defined as cerebral palsy, severe visual loss, deafness requiring a hearing aid or cochlear implants, major language or speech problems, or cognitive delay at 2 years corrected age. The median time to clamping was 60 seconds in the delayed group and 5 seconds in the immediate group.

Primary outcome data were available for 1,419 infants. Death or major disability occurred in 29% of infants assigned to delayed clamping compared to 34% of those assigned to immediate clamping (relative risk 0.83, P = .010). The infants were part of the APTS Childhood Follow-Up Study, an open-label superiority trial conducted in Australia and New Zealand.

By age 2 years, 8% of infants in the delayed group and 11% of those in the immediate group had died; 23% and 26%, respectively, met criteria for major disability. The impact of delayed clamping translates to a 30% reduction in relative risk of mortality at 2 years of age, but no significant impact on major disability, the researchers wrote.

The findings were limited by several factors including the unblinded study design, lack of data on heart rate or time to first breath, and the clamping prior to 60 seconds in 26% of infants in the delayed group based on clinical concerns for these specific infants, the researchers noted.

However, the results were strengthened by the large size, low risk of bias, and specific primary outcome, they said. The data support findings from recent systematic reviews and highlight the need for further trials to evaluate delayed clamping at different time points, with larger populations, inclusion of time to first breath and heart rate, and improved measures of disability, the researchers added.

In clinical practice, “Given that aiming to delay cord clamping for 60 seconds or more improved 2-year outcomes and short-term hematological measures with no evidence of significant harm, it seems reasonable to conclude that delayed clamping is appropriate as standard care in very preterm infants,” they concluded.
 

Accepting simple intervention could have great impact

This study is important in light of the overwhelming burden of preterm birth on the health care system and society as a whole, Lisette D. Tanner, MD, of Emory University, Atlanta, said in an interview.

“Preterm birth is associated with billions in health care costs each year, and a large portion of that money is directed to the complications associated with preterm birth, such as early intervention services, educational support, and ongoing medical care,” Dr. Tanner said. “This study is particularly timely, as we are quickly approaching 2030, the deadline for achieving the United Nations Sustainable Development Goal of ending preventable deaths of newborns and children under 5 years of age,” she said. The goal involves “all countries aiming to reduce neonatal mortality to at least as low as 12 per 1,000 live births and under-5 mortality to at least as low as 25 per 1,000 live births. Effective treatments to reduce infant and child mortality would make strong inroads toward this goal,” she explained.

Dr. Tanner said she was not surprised by the findings because previous studies have shown similar results. “However, the large, multicenter nature of this study provides additional weight to recommendations to delay cord clamping as standard practice,” she said.

“The findings of this study support the recommendations of a number of large organizations,” said Dr. Tanner. “The World Health Organization recommends that the umbilical cord not be clamped earlier than 1 minute after birth in term or preterm infants who do not require positive pressure ventilation. The American College of Obstetricians and Gynecologists and the American Academy of Pediatrics now recommend a delay in umbilical cord clamping in vigorous term and preterm infants for at least 30–60 seconds after birth,” she said. “The Royal College of Obstetricians and Gynaecologists also recommends deferring umbilical cord clamping for healthy term and preterm infants for at least 2 minutes after birth,” she added.  

However, “the delay in adoption of this guidelines in practice appears to be related to some concerns regarding universal adoption of this approach,” Dr. Tanner noted. “Some clinicians have suggested that delayed cord clamping could delay vital neonatal resuscitative efforts, leading to worse neonatal outcomes, but this concern has not been borne out in the data, as all guidelines specifically state that this intervention is for vigorous newborns,” she said. “In fact, in preterm infants, delayed cord clamping is associated with improved transitional circulation, decreased need for blood transfusion, and lower incidence of necrotizing enterocolitis and intraventricular hemorrhage,” Dr. Tanner emphasized. “Additionally, concerns persist that delayed cord clamping could lead to excessive transfusion with resultant polycythemia. Again, no data have supported this claim to date,” she said.

“Finally, some clinicians are concerned that delayed clamping could lead to delay in addressing maternal complications of birth such as hemorrhage, but studies have shown the opposite; delayed umbilical cord clamping has not been associated with an increased risk of postpartum hemorrhage or increased blood loss at delivery, nor has it been with a difference in the need for blood transfusion,” said Dr. Tanner.

Ideally, practitioners will become more comfortable in delaying cord clamping as a routine practice as more data demonstrating the safety and benefit of this easy intervention are disseminated, she said.

Additional research delineating which gestational ages benefit most from delayed cord clamping would help direct education efforts to implement this intervention, Dr. Tanner noted.

The study was funded by the Australian National Health and Medical Research Council. The researchers and Dr. Tanner had no financial conflicts to disclose.

Delayed umbilical cord clamping for at least 60 seconds after birth significantly reduced death or disability in infants of less than 30 weeks’ gestation, according to data from nearly 1,500 infants.

The burden of disability and mortality for babies born before 30 weeks’ gestation remains high, especially in low- and middle-income countries, wrote Kristy P. Robledo, PhD, of the University of Sydney, Australia, and colleagues. Delayed clamping of the umbilical cord is a simple procedure that may improve mortality in this population, but more research is needed; recommended times to delayed clamping range from 30 seconds to 3 minutes, they noted.

In a study published in The Lancet Child & Adolescent Health, the researchers randomized 767 very preterm infants to delayed clamping at least 60 seconds after birth and 764 to immediate clamping. Of these, 384 were multiple births (who were individually randomized), 862 were male, and 505 were born before 27 weeks’ gestation. The primary outcome was death or disability at 2 years of age. Major disability was defined as cerebral palsy, severe visual loss, deafness requiring a hearing aid or cochlear implants, major language or speech problems, or cognitive delay at 2 years corrected age. The median time to clamping was 60 seconds in the delayed group and 5 seconds in the immediate group.

Primary outcome data were available for 1,419 infants. Death or major disability occurred in 29% of infants assigned to delayed clamping compared to 34% of those assigned to immediate clamping (relative risk 0.83, P = .010). The infants were part of the APTS Childhood Follow-Up Study, an open-label superiority trial conducted in Australia and New Zealand.

By age 2 years, 8% of infants in the delayed group and 11% of those in the immediate group had died; 23% and 26%, respectively, met criteria for major disability. The impact of delayed clamping translates to a 30% reduction in relative risk of mortality at 2 years of age, but no significant impact on major disability, the researchers wrote.

The findings were limited by several factors including the unblinded study design, lack of data on heart rate or time to first breath, and the clamping prior to 60 seconds in 26% of infants in the delayed group based on clinical concerns for these specific infants, the researchers noted.

However, the results were strengthened by the large size, low risk of bias, and specific primary outcome, they said. The data support findings from recent systematic reviews and highlight the need for further trials to evaluate delayed clamping at different time points, with larger populations, inclusion of time to first breath and heart rate, and improved measures of disability, the researchers added.

In clinical practice, “Given that aiming to delay cord clamping for 60 seconds or more improved 2-year outcomes and short-term hematological measures with no evidence of significant harm, it seems reasonable to conclude that delayed clamping is appropriate as standard care in very preterm infants,” they concluded.
 

Accepting simple intervention could have great impact

This study is important in light of the overwhelming burden of preterm birth on the health care system and society as a whole, Lisette D. Tanner, MD, of Emory University, Atlanta, said in an interview.

“Preterm birth is associated with billions in health care costs each year, and a large portion of that money is directed to the complications associated with preterm birth, such as early intervention services, educational support, and ongoing medical care,” Dr. Tanner said. “This study is particularly timely, as we are quickly approaching 2030, the deadline for achieving the United Nations Sustainable Development Goal of ending preventable deaths of newborns and children under 5 years of age,” she said. The goal involves “all countries aiming to reduce neonatal mortality to at least as low as 12 per 1,000 live births and under-5 mortality to at least as low as 25 per 1,000 live births. Effective treatments to reduce infant and child mortality would make strong inroads toward this goal,” she explained.

Dr. Tanner said she was not surprised by the findings because previous studies have shown similar results. “However, the large, multicenter nature of this study provides additional weight to recommendations to delay cord clamping as standard practice,” she said.

“The findings of this study support the recommendations of a number of large organizations,” said Dr. Tanner. “The World Health Organization recommends that the umbilical cord not be clamped earlier than 1 minute after birth in term or preterm infants who do not require positive pressure ventilation. The American College of Obstetricians and Gynecologists and the American Academy of Pediatrics now recommend a delay in umbilical cord clamping in vigorous term and preterm infants for at least 30–60 seconds after birth,” she said. “The Royal College of Obstetricians and Gynaecologists also recommends deferring umbilical cord clamping for healthy term and preterm infants for at least 2 minutes after birth,” she added.  

However, “the delay in adoption of this guidelines in practice appears to be related to some concerns regarding universal adoption of this approach,” Dr. Tanner noted. “Some clinicians have suggested that delayed cord clamping could delay vital neonatal resuscitative efforts, leading to worse neonatal outcomes, but this concern has not been borne out in the data, as all guidelines specifically state that this intervention is for vigorous newborns,” she said. “In fact, in preterm infants, delayed cord clamping is associated with improved transitional circulation, decreased need for blood transfusion, and lower incidence of necrotizing enterocolitis and intraventricular hemorrhage,” Dr. Tanner emphasized. “Additionally, concerns persist that delayed cord clamping could lead to excessive transfusion with resultant polycythemia. Again, no data have supported this claim to date,” she said.

“Finally, some clinicians are concerned that delayed clamping could lead to delay in addressing maternal complications of birth such as hemorrhage, but studies have shown the opposite; delayed umbilical cord clamping has not been associated with an increased risk of postpartum hemorrhage or increased blood loss at delivery, nor has it been with a difference in the need for blood transfusion,” said Dr. Tanner.

Ideally, practitioners will become more comfortable in delaying cord clamping as a routine practice as more data demonstrating the safety and benefit of this easy intervention are disseminated, she said.

Additional research delineating which gestational ages benefit most from delayed cord clamping would help direct education efforts to implement this intervention, Dr. Tanner noted.

The study was funded by the Australian National Health and Medical Research Council. The researchers and Dr. Tanner had no financial conflicts to disclose.

Delayed umbilical cord clamping for at least 60 seconds after birth significantly reduced death or disability in infants of less than 30 weeks’ gestation, according to data from nearly 1,500 infants.

The burden of disability and mortality for babies born before 30 weeks’ gestation remains high, especially in low- and middle-income countries, wrote Kristy P. Robledo, PhD, of the University of Sydney, Australia, and colleagues. Delayed clamping of the umbilical cord is a simple procedure that may improve mortality in this population, but more research is needed; recommended times to delayed clamping range from 30 seconds to 3 minutes, they noted.

In a study published in The Lancet Child & Adolescent Health, the researchers randomized 767 very preterm infants to delayed clamping at least 60 seconds after birth and 764 to immediate clamping. Of these, 384 were multiple births (who were individually randomized), 862 were male, and 505 were born before 27 weeks’ gestation. The primary outcome was death or disability at 2 years of age. Major disability was defined as cerebral palsy, severe visual loss, deafness requiring a hearing aid or cochlear implants, major language or speech problems, or cognitive delay at 2 years corrected age. The median time to clamping was 60 seconds in the delayed group and 5 seconds in the immediate group.

Primary outcome data were available for 1,419 infants. Death or major disability occurred in 29% of infants assigned to delayed clamping compared to 34% of those assigned to immediate clamping (relative risk 0.83, P = .010). The infants were part of the APTS Childhood Follow-Up Study, an open-label superiority trial conducted in Australia and New Zealand.

By age 2 years, 8% of infants in the delayed group and 11% of those in the immediate group had died; 23% and 26%, respectively, met criteria for major disability. The impact of delayed clamping translates to a 30% reduction in relative risk of mortality at 2 years of age, but no significant impact on major disability, the researchers wrote.

The findings were limited by several factors including the unblinded study design, lack of data on heart rate or time to first breath, and the clamping prior to 60 seconds in 26% of infants in the delayed group based on clinical concerns for these specific infants, the researchers noted.

However, the results were strengthened by the large size, low risk of bias, and specific primary outcome, they said. The data support findings from recent systematic reviews and highlight the need for further trials to evaluate delayed clamping at different time points, with larger populations, inclusion of time to first breath and heart rate, and improved measures of disability, the researchers added.

In clinical practice, “Given that aiming to delay cord clamping for 60 seconds or more improved 2-year outcomes and short-term hematological measures with no evidence of significant harm, it seems reasonable to conclude that delayed clamping is appropriate as standard care in very preterm infants,” they concluded.
 

Accepting simple intervention could have great impact

This study is important in light of the overwhelming burden of preterm birth on the health care system and society as a whole, Lisette D. Tanner, MD, of Emory University, Atlanta, said in an interview.

“Preterm birth is associated with billions in health care costs each year, and a large portion of that money is directed to the complications associated with preterm birth, such as early intervention services, educational support, and ongoing medical care,” Dr. Tanner said. “This study is particularly timely, as we are quickly approaching 2030, the deadline for achieving the United Nations Sustainable Development Goal of ending preventable deaths of newborns and children under 5 years of age,” she said. The goal involves “all countries aiming to reduce neonatal mortality to at least as low as 12 per 1,000 live births and under-5 mortality to at least as low as 25 per 1,000 live births. Effective treatments to reduce infant and child mortality would make strong inroads toward this goal,” she explained.

Dr. Tanner said she was not surprised by the findings because previous studies have shown similar results. “However, the large, multicenter nature of this study provides additional weight to recommendations to delay cord clamping as standard practice,” she said.

“The findings of this study support the recommendations of a number of large organizations,” said Dr. Tanner. “The World Health Organization recommends that the umbilical cord not be clamped earlier than 1 minute after birth in term or preterm infants who do not require positive pressure ventilation. The American College of Obstetricians and Gynecologists and the American Academy of Pediatrics now recommend a delay in umbilical cord clamping in vigorous term and preterm infants for at least 30–60 seconds after birth,” she said. “The Royal College of Obstetricians and Gynaecologists also recommends deferring umbilical cord clamping for healthy term and preterm infants for at least 2 minutes after birth,” she added.  

However, “the delay in adoption of this guidelines in practice appears to be related to some concerns regarding universal adoption of this approach,” Dr. Tanner noted. “Some clinicians have suggested that delayed cord clamping could delay vital neonatal resuscitative efforts, leading to worse neonatal outcomes, but this concern has not been borne out in the data, as all guidelines specifically state that this intervention is for vigorous newborns,” she said. “In fact, in preterm infants, delayed cord clamping is associated with improved transitional circulation, decreased need for blood transfusion, and lower incidence of necrotizing enterocolitis and intraventricular hemorrhage,” Dr. Tanner emphasized. “Additionally, concerns persist that delayed cord clamping could lead to excessive transfusion with resultant polycythemia. Again, no data have supported this claim to date,” she said.

“Finally, some clinicians are concerned that delayed clamping could lead to delay in addressing maternal complications of birth such as hemorrhage, but studies have shown the opposite; delayed umbilical cord clamping has not been associated with an increased risk of postpartum hemorrhage or increased blood loss at delivery, nor has it been with a difference in the need for blood transfusion,” said Dr. Tanner.

Ideally, practitioners will become more comfortable in delaying cord clamping as a routine practice as more data demonstrating the safety and benefit of this easy intervention are disseminated, she said.

Additional research delineating which gestational ages benefit most from delayed cord clamping would help direct education efforts to implement this intervention, Dr. Tanner noted.

The study was funded by the Australian National Health and Medical Research Council. The researchers and Dr. Tanner had no financial conflicts to disclose.

They say you are what you eat, but scientists have long wondered whether breastfeeding babies are what their mothers eat, too. Their question: How much of a nursing mother’s diet eventually plays a role in a child’s food preferences later in life?

The aroma, taste, and makeup of breast milk change from day to day, based mostly on the mother’s diet. But previous research has already shown that the foods a mother eats do not directly translate into the same smells and tastes of that food in breast milk. Some substances from the mother’s diet enter her breast milk, some don’t, and even ones that do may have a different scent or flavor than what the mother experiences.

But a new study suggests that the active ingredient in black pepper makes its way into breast milk and may help the infant develop a tolerance to pepper later. The researchers published their findings in the journal Molecular Nutrition & Food Research.
 

Pinch of pepper

The study authors thought that maybe some food preferences could result from sensory programming that occurs through breast milk in the first few months of life. Though past studies have looked at which odor-producing substances transfer into breast milk, not many have explored specific substances that give food its distinctive flavor, or even what makes up the taste of breast milk. So they decided to investigate what happens when a mother consumes a meal containing three specific compounds: those that give pepper, chili, and ginger their particularly pungent flavors.

The researchers recruited 18 healthy, nonsmoking, nursing mothers who were producing more than enough milk for their baby’s needs. Their breastfeeding children ranged in age from 8 weeks to 1 year old. The women all ate a curry dish after having spent 2 days avoiding onion, garlic, and the spices in the curry. Then they provided pumped breast milk samples at 1, 2, and 3 hours after eating the curry.

Within an hour of the women eating the curry, the scientists were able to detect piperine, the compound that gives black pepper its bite, in the mothers’ breast milk. They did not find the compounds from ginger, chili, or curcumin – the main active ingredient in turmeric – in the breast milk. The piperine remained there for several hours, but there wasn’t enough for an adult to be able to taste it. It wasn’t possible to reliably tell whether the infants could consciously detect the flavor, but the researchers don’t think it’s likely they did.

But the scientists do suggest it’s possible that the piperine in breast milk could regularly activate a protein that detects pungent or potentially harmful substances. This is the same protein that produces the sensation of heat when eating a spicy food. If the piperine frequently activates that protein in a nursing baby at levels too low for the baby to notice, it may increase the baby’s tolerance for similar spicy substances later in life.

Ultimately, the findings suggest that some compounds in a mother’s diet have the potential to influence a child’s taste preferences later.

A version of this story first appeared on WebMD.com.

They say you are what you eat, but scientists have long wondered whether breastfeeding babies are what their mothers eat, too. Their question: How much of a nursing mother’s diet eventually plays a role in a child’s food preferences later in life?

The aroma, taste, and makeup of breast milk change from day to day, based mostly on the mother’s diet. But previous research has already shown that the foods a mother eats do not directly translate into the same smells and tastes of that food in breast milk. Some substances from the mother’s diet enter her breast milk, some don’t, and even ones that do may have a different scent or flavor than what the mother experiences.

But a new study suggests that the active ingredient in black pepper makes its way into breast milk and may help the infant develop a tolerance to pepper later. The researchers published their findings in the journal Molecular Nutrition & Food Research.
 

Pinch of pepper

The study authors thought that maybe some food preferences could result from sensory programming that occurs through breast milk in the first few months of life. Though past studies have looked at which odor-producing substances transfer into breast milk, not many have explored specific substances that give food its distinctive flavor, or even what makes up the taste of breast milk. So they decided to investigate what happens when a mother consumes a meal containing three specific compounds: those that give pepper, chili, and ginger their particularly pungent flavors.

The researchers recruited 18 healthy, nonsmoking, nursing mothers who were producing more than enough milk for their baby’s needs. Their breastfeeding children ranged in age from 8 weeks to 1 year old. The women all ate a curry dish after having spent 2 days avoiding onion, garlic, and the spices in the curry. Then they provided pumped breast milk samples at 1, 2, and 3 hours after eating the curry.

Within an hour of the women eating the curry, the scientists were able to detect piperine, the compound that gives black pepper its bite, in the mothers’ breast milk. They did not find the compounds from ginger, chili, or curcumin – the main active ingredient in turmeric – in the breast milk. The piperine remained there for several hours, but there wasn’t enough for an adult to be able to taste it. It wasn’t possible to reliably tell whether the infants could consciously detect the flavor, but the researchers don’t think it’s likely they did.

But the scientists do suggest it’s possible that the piperine in breast milk could regularly activate a protein that detects pungent or potentially harmful substances. This is the same protein that produces the sensation of heat when eating a spicy food. If the piperine frequently activates that protein in a nursing baby at levels too low for the baby to notice, it may increase the baby’s tolerance for similar spicy substances later in life.

Ultimately, the findings suggest that some compounds in a mother’s diet have the potential to influence a child’s taste preferences later.

A version of this story first appeared on WebMD.com.

They say you are what you eat, but scientists have long wondered whether breastfeeding babies are what their mothers eat, too. Their question: How much of a nursing mother’s diet eventually plays a role in a child’s food preferences later in life?

The aroma, taste, and makeup of breast milk change from day to day, based mostly on the mother’s diet. But previous research has already shown that the foods a mother eats do not directly translate into the same smells and tastes of that food in breast milk. Some substances from the mother’s diet enter her breast milk, some don’t, and even ones that do may have a different scent or flavor than what the mother experiences.

But a new study suggests that the active ingredient in black pepper makes its way into breast milk and may help the infant develop a tolerance to pepper later. The researchers published their findings in the journal Molecular Nutrition & Food Research.
 

Pinch of pepper

The study authors thought that maybe some food preferences could result from sensory programming that occurs through breast milk in the first few months of life. Though past studies have looked at which odor-producing substances transfer into breast milk, not many have explored specific substances that give food its distinctive flavor, or even what makes up the taste of breast milk. So they decided to investigate what happens when a mother consumes a meal containing three specific compounds: those that give pepper, chili, and ginger their particularly pungent flavors.

The researchers recruited 18 healthy, nonsmoking, nursing mothers who were producing more than enough milk for their baby’s needs. Their breastfeeding children ranged in age from 8 weeks to 1 year old. The women all ate a curry dish after having spent 2 days avoiding onion, garlic, and the spices in the curry. Then they provided pumped breast milk samples at 1, 2, and 3 hours after eating the curry.

Within an hour of the women eating the curry, the scientists were able to detect piperine, the compound that gives black pepper its bite, in the mothers’ breast milk. They did not find the compounds from ginger, chili, or curcumin – the main active ingredient in turmeric – in the breast milk. The piperine remained there for several hours, but there wasn’t enough for an adult to be able to taste it. It wasn’t possible to reliably tell whether the infants could consciously detect the flavor, but the researchers don’t think it’s likely they did.

But the scientists do suggest it’s possible that the piperine in breast milk could regularly activate a protein that detects pungent or potentially harmful substances. This is the same protein that produces the sensation of heat when eating a spicy food. If the piperine frequently activates that protein in a nursing baby at levels too low for the baby to notice, it may increase the baby’s tolerance for similar spicy substances later in life.

Ultimately, the findings suggest that some compounds in a mother’s diet have the potential to influence a child’s taste preferences later.

A version of this story first appeared on WebMD.com.

The season of conception does not affect whether more boys than girls are born, nor do temperatures in the environment, a large study reveals. Similarly, researchers found no connection with a location’s violent crime level, unemployment rate, or major events like Hurricane Katrina.

But certain chemical pollutants were related to fewer boys being born compared to girls when researchers looked at data for more than 3 million newborns over 8 years in the U.S. and another 3 million born over 30 years in Sweden.

“With data on births in 150 million people in the U.S. over 8 years and 9 million Swedes over 9 years, this is almost surely the largest study to date on the question of environmental factors and their influence on sex ratio at birth,” says Shanna Swan, PhD, who was not affiliated with the research

Variations in the annual sex birth ratio (SRB) – the number of boys born compared to the total birth rate – are well-accepted. Less clear is what things drive these changes.

Although not the first study to look for connections between major events or pollutants in the air, water, and land and the SRB, it is the first to mine two very large electronic medical record databases for answers, senior study author Andrey Rzhetsky, PhD, a professor of medicine and human genetics at the University of Chicago, tells this news organization.

The findings were published Dec. 2, 2021, in PLOS Computational Biology.

And even though the SRB did not vary significantly after Hurricane Katrina in 2005, it did after the 2007 shooting at Virginia Tech, Dr. Rzhetsky and colleagues found. The SRB was lower than expected 34 weeks after the mass shooting.
 

Location, location, location

The researchers also found the levels of chemical pollutants “varied remarkably” across different regions of the country. For example, lead in the land was elevated in the Northeast, Southwest, and Mideastern U.S. but not in the South. Also, the highest levels of total mercury in water samples was found mostly in Eastern states, especially in the Northeast.

Dr. Rzhetsky and colleagues mapped these regional differences in many factors, including hydrazine. Hydrazine is a foaming agent used to make pharmaceuticals, agrochemicals, and as a propellant for spacecraft.

“Hydrazine appears to follow capricious, blotch-like shapes in the eastern U.S., each blotch likely centered at a factory emitting this pollutant,” the authors wrote.

To get a more complete picture, the investigators also compared changes in the SRB to data from the U.S. National Oceanic and Atmospheric Administration, U.S. Environmental Protection Agency, Swedish Meteorological and Hydrological Institute, and Statistics Sweden.

They found that aluminium in air, chromium in water, and total mercury levels drove the SRB up. By comparison, lead in soil and areas with a higher renter occupancy were linked to a lower SRB, or a higher proportion of girls being born.

Dr. Rzhetsky and colleagues also add to the evidence for a link between polychlorinated biphenyls (PCBs) and the SRB. Previous findings conflict, the authors noted.

“Since the sample sizes of the studies published thus far were very small, our PCBs result would have substantially larger statistical power,” they said.

Several pollutants had no significant link to SRB in the study, including levels of lead or chromium in the air, arsenic in the soil, and cadmium in the air or water.
 

Consistent findings

That said, the research had limits.

“The magnitude is new in terms of number of births, and the statistical methods are unusually sophisticated, but the conclusions don’t really differ from much of what has been published,” says Dr. Swan, a professor of environmental medicine and public health at the Icahn School of Medicine at Mount Sinai, New York.

“The takeaway message that many examined exposures are associated with lower – and some with higher – SRBs is not new but consistent with other, smaller studies,” says Dr. Swan, who co-authored a Sept. 2021 study evaluating endocrine-disrupting chemicals and lower birth rates in Asia.

The data on environmental exposures “is, however, quite uneven, and only known at the ecologic and not the individual level,” she says. “We learn, for example, that SRB was significantly reduced ... among families living in areas with the highest septile of lead exposure but also in those among the highest septile of percent renter occupancy.”

“Evaluating these as to mechanism and plausibility is difficult,” Dr. Swan says.
 

More research warranted

The mechanism remains unknown, but the investigators suggested that female embryo pregnancies may end early in development, driving the SRB up. Also, male embryo deaths are more common in the late second or third trimester, at which point they would drive the SRB down. A third factor, maternal hormone levels around the time of conception, could also alter the SRB.

The associations between individual factors and SRB changes are just that – associations – not intended to be interpreted as “sex-specific selection mechanisms” causing the differences at this point, the authors noted. Further studies to confirm the associations are needed.

The research is a good stepping off point for future studies to look closer at the contribution of pollutants like arsenic, lead, cadmium, and more, Dr. Rzhetsky says.

A version of this article first appeared on WebMD.com.

The season of conception does not affect whether more boys than girls are born, nor do temperatures in the environment, a large study reveals. Similarly, researchers found no connection with a location’s violent crime level, unemployment rate, or major events like Hurricane Katrina.

But certain chemical pollutants were related to fewer boys being born compared to girls when researchers looked at data for more than 3 million newborns over 8 years in the U.S. and another 3 million born over 30 years in Sweden.

“With data on births in 150 million people in the U.S. over 8 years and 9 million Swedes over 9 years, this is almost surely the largest study to date on the question of environmental factors and their influence on sex ratio at birth,” says Shanna Swan, PhD, who was not affiliated with the research

Variations in the annual sex birth ratio (SRB) – the number of boys born compared to the total birth rate – are well-accepted. Less clear is what things drive these changes.

Although not the first study to look for connections between major events or pollutants in the air, water, and land and the SRB, it is the first to mine two very large electronic medical record databases for answers, senior study author Andrey Rzhetsky, PhD, a professor of medicine and human genetics at the University of Chicago, tells this news organization.

The findings were published Dec. 2, 2021, in PLOS Computational Biology.

And even though the SRB did not vary significantly after Hurricane Katrina in 2005, it did after the 2007 shooting at Virginia Tech, Dr. Rzhetsky and colleagues found. The SRB was lower than expected 34 weeks after the mass shooting.
 

Location, location, location

The researchers also found the levels of chemical pollutants “varied remarkably” across different regions of the country. For example, lead in the land was elevated in the Northeast, Southwest, and Mideastern U.S. but not in the South. Also, the highest levels of total mercury in water samples was found mostly in Eastern states, especially in the Northeast.

Dr. Rzhetsky and colleagues mapped these regional differences in many factors, including hydrazine. Hydrazine is a foaming agent used to make pharmaceuticals, agrochemicals, and as a propellant for spacecraft.

“Hydrazine appears to follow capricious, blotch-like shapes in the eastern U.S., each blotch likely centered at a factory emitting this pollutant,” the authors wrote.

To get a more complete picture, the investigators also compared changes in the SRB to data from the U.S. National Oceanic and Atmospheric Administration, U.S. Environmental Protection Agency, Swedish Meteorological and Hydrological Institute, and Statistics Sweden.

They found that aluminium in air, chromium in water, and total mercury levels drove the SRB up. By comparison, lead in soil and areas with a higher renter occupancy were linked to a lower SRB, or a higher proportion of girls being born.

Dr. Rzhetsky and colleagues also add to the evidence for a link between polychlorinated biphenyls (PCBs) and the SRB. Previous findings conflict, the authors noted.

“Since the sample sizes of the studies published thus far were very small, our PCBs result would have substantially larger statistical power,” they said.

Several pollutants had no significant link to SRB in the study, including levels of lead or chromium in the air, arsenic in the soil, and cadmium in the air or water.
 

Consistent findings

That said, the research had limits.

“The magnitude is new in terms of number of births, and the statistical methods are unusually sophisticated, but the conclusions don’t really differ from much of what has been published,” says Dr. Swan, a professor of environmental medicine and public health at the Icahn School of Medicine at Mount Sinai, New York.

“The takeaway message that many examined exposures are associated with lower – and some with higher – SRBs is not new but consistent with other, smaller studies,” says Dr. Swan, who co-authored a Sept. 2021 study evaluating endocrine-disrupting chemicals and lower birth rates in Asia.

The data on environmental exposures “is, however, quite uneven, and only known at the ecologic and not the individual level,” she says. “We learn, for example, that SRB was significantly reduced ... among families living in areas with the highest septile of lead exposure but also in those among the highest septile of percent renter occupancy.”

“Evaluating these as to mechanism and plausibility is difficult,” Dr. Swan says.
 

More research warranted

The mechanism remains unknown, but the investigators suggested that female embryo pregnancies may end early in development, driving the SRB up. Also, male embryo deaths are more common in the late second or third trimester, at which point they would drive the SRB down. A third factor, maternal hormone levels around the time of conception, could also alter the SRB.

The associations between individual factors and SRB changes are just that – associations – not intended to be interpreted as “sex-specific selection mechanisms” causing the differences at this point, the authors noted. Further studies to confirm the associations are needed.

The research is a good stepping off point for future studies to look closer at the contribution of pollutants like arsenic, lead, cadmium, and more, Dr. Rzhetsky says.

A version of this article first appeared on WebMD.com.

The season of conception does not affect whether more boys than girls are born, nor do temperatures in the environment, a large study reveals. Similarly, researchers found no connection with a location’s violent crime level, unemployment rate, or major events like Hurricane Katrina.

But certain chemical pollutants were related to fewer boys being born compared to girls when researchers looked at data for more than 3 million newborns over 8 years in the U.S. and another 3 million born over 30 years in Sweden.

“With data on births in 150 million people in the U.S. over 8 years and 9 million Swedes over 9 years, this is almost surely the largest study to date on the question of environmental factors and their influence on sex ratio at birth,” says Shanna Swan, PhD, who was not affiliated with the research

Variations in the annual sex birth ratio (SRB) – the number of boys born compared to the total birth rate – are well-accepted. Less clear is what things drive these changes.

Although not the first study to look for connections between major events or pollutants in the air, water, and land and the SRB, it is the first to mine two very large electronic medical record databases for answers, senior study author Andrey Rzhetsky, PhD, a professor of medicine and human genetics at the University of Chicago, tells this news organization.

The findings were published Dec. 2, 2021, in PLOS Computational Biology.

And even though the SRB did not vary significantly after Hurricane Katrina in 2005, it did after the 2007 shooting at Virginia Tech, Dr. Rzhetsky and colleagues found. The SRB was lower than expected 34 weeks after the mass shooting.
 

Location, location, location

The researchers also found the levels of chemical pollutants “varied remarkably” across different regions of the country. For example, lead in the land was elevated in the Northeast, Southwest, and Mideastern U.S. but not in the South. Also, the highest levels of total mercury in water samples was found mostly in Eastern states, especially in the Northeast.

Dr. Rzhetsky and colleagues mapped these regional differences in many factors, including hydrazine. Hydrazine is a foaming agent used to make pharmaceuticals, agrochemicals, and as a propellant for spacecraft.

“Hydrazine appears to follow capricious, blotch-like shapes in the eastern U.S., each blotch likely centered at a factory emitting this pollutant,” the authors wrote.

To get a more complete picture, the investigators also compared changes in the SRB to data from the U.S. National Oceanic and Atmospheric Administration, U.S. Environmental Protection Agency, Swedish Meteorological and Hydrological Institute, and Statistics Sweden.

They found that aluminium in air, chromium in water, and total mercury levels drove the SRB up. By comparison, lead in soil and areas with a higher renter occupancy were linked to a lower SRB, or a higher proportion of girls being born.

Dr. Rzhetsky and colleagues also add to the evidence for a link between polychlorinated biphenyls (PCBs) and the SRB. Previous findings conflict, the authors noted.

“Since the sample sizes of the studies published thus far were very small, our PCBs result would have substantially larger statistical power,” they said.

Several pollutants had no significant link to SRB in the study, including levels of lead or chromium in the air, arsenic in the soil, and cadmium in the air or water.
 

Consistent findings

That said, the research had limits.

“The magnitude is new in terms of number of births, and the statistical methods are unusually sophisticated, but the conclusions don’t really differ from much of what has been published,” says Dr. Swan, a professor of environmental medicine and public health at the Icahn School of Medicine at Mount Sinai, New York.

“The takeaway message that many examined exposures are associated with lower – and some with higher – SRBs is not new but consistent with other, smaller studies,” says Dr. Swan, who co-authored a Sept. 2021 study evaluating endocrine-disrupting chemicals and lower birth rates in Asia.

The data on environmental exposures “is, however, quite uneven, and only known at the ecologic and not the individual level,” she says. “We learn, for example, that SRB was significantly reduced ... among families living in areas with the highest septile of lead exposure but also in those among the highest septile of percent renter occupancy.”

“Evaluating these as to mechanism and plausibility is difficult,” Dr. Swan says.
 

More research warranted

The mechanism remains unknown, but the investigators suggested that female embryo pregnancies may end early in development, driving the SRB up. Also, male embryo deaths are more common in the late second or third trimester, at which point they would drive the SRB down. A third factor, maternal hormone levels around the time of conception, could also alter the SRB.

The associations between individual factors and SRB changes are just that – associations – not intended to be interpreted as “sex-specific selection mechanisms” causing the differences at this point, the authors noted. Further studies to confirm the associations are needed.

The research is a good stepping off point for future studies to look closer at the contribution of pollutants like arsenic, lead, cadmium, and more, Dr. Rzhetsky says.

A version of this article first appeared on WebMD.com.

In recent weeks, the Centers for Disease Control and Prevention has greatly expanded recommendations for boosters for vaccinations against COVID-19.

These recommendations have been widened because of the continued emergence of new variants of the virus and the wane of protection over time for both vaccinations and previous disease.

The new recommendations take away some of the questions surrounding eligibility for booster vaccinations while potentially leaving some additional questions. All in all, they provide flexibility for individuals to help protect themselves against the COVID-19 virus, as many are considering celebrating the holidays with friends and family.

The first item that has become clear is that all individuals over 18 are now not only eligible for a booster vaccination a certain time after they have completed their series, but have a recommendation for one.¹

But what about a fourth dose?  There is a possibility that some patients should be receiving one.  For those who require a three-dose series due to a condition that makes them immunocompromised, they should receive their booster vaccination six months after completion of the three-dose series.  This distinction  may cause confusion for some, but is important for those immunocompromised.

Boosters in women who are pregnant

The recommendations also include specific comments about individuals who are pregnant. Although initial studies did not include pregnant individuals, there has been increasing real world data that vaccination against COVID, including booster vaccinations, is safe and recommended. As pregnancy increases the risk of severe disease if infected by COVID-19, both the CDC and the American College of Obstetricians and Gynecologists,² along with other specialty organizations, such as the Royal College of Obstetricians and Gynaecologists, recommend vaccinations for pregnant individuals.

The CDC goes on to describe that there is no evidence of vaccination increasing the risk of infertility. The vaccine protects the pregnant individual and also provides protection to the baby once born. The same is true of breastfeeding individuals.³

I hope that this information allows physicians to feel comfortable recommending vaccinations and boosters to those who are pregnant and breast feeding.
 

Expanded recommendations for those aged 16-17 years

Recently, the CDC also expanded booster recommendations to include those aged 16-17 years, 6 months after completing their vaccine series.

Those under 18 are currently only able to receive the Pfizer-BioNtech vaccine. This new guidance has left some parents wondering if there will also be approval for booster vaccinations soon for those aged 12-16 who are approaching or have reached six months past the initial vaccine.¹

Booster brand for those over 18 years?

Although the recommendation has been simplified for all over age 18 years, there is still a decision to be made about which vaccine to use as the booster.

The recommendations allow individuals to decide which brand of vaccine they would like to have as a booster. They may choose to be vaccinated with the same vaccine they originally received or with a different vaccine. This vaccine flexibility may cause confusion, but ultimately is a good thing as it allows individuals to receive whatever vaccine is available and most convenient. This also allows individuals who have been vaccinated outside of the United States by a different brand of vaccine to also receive a booster vaccination with one of the options available here.
 

Take home message

Overall, the expansion of booster recommendations will help everyone avoid severe disease from COVID-19 infections. Physicians now have more clarity on who should be receiving these vaccines. Along with testing, masking, and appropriate distancing, these recommendations should help prevent severe disease and death from COVID-19.

Dr. Wheat is a family physician at Erie Family Health Center in Chicago. She is program director of Northwestern’s McGaw Family Medicine residency program, also in Chicago. Dr. Wheat serves on the editorial advisory board of Family Practice News. You can contact her at fpnews@mdedge.com.

References

1. COVID-19 Vaccine Booster Shots. Centers for Disease Control and Prevention. 2021 Dec 9.

2. COVID-19 Vaccines and Pregnancy: Conversation Guide. American College of Obstetricians and Gynecologists. 2021 November.

3. COVID-19 Vaccines While Pregnant or Breastfeeding. Centers for Disease Control and Prevention. 2021 Dec 6.

In recent weeks, the Centers for Disease Control and Prevention has greatly expanded recommendations for boosters for vaccinations against COVID-19.

These recommendations have been widened because of the continued emergence of new variants of the virus and the wane of protection over time for both vaccinations and previous disease.

The new recommendations take away some of the questions surrounding eligibility for booster vaccinations while potentially leaving some additional questions. All in all, they provide flexibility for individuals to help protect themselves against the COVID-19 virus, as many are considering celebrating the holidays with friends and family.

The first item that has become clear is that all individuals over 18 are now not only eligible for a booster vaccination a certain time after they have completed their series, but have a recommendation for one.¹

But what about a fourth dose?  There is a possibility that some patients should be receiving one.  For those who require a three-dose series due to a condition that makes them immunocompromised, they should receive their booster vaccination six months after completion of the three-dose series.  This distinction  may cause confusion for some, but is important for those immunocompromised.

Boosters in women who are pregnant

The recommendations also include specific comments about individuals who are pregnant. Although initial studies did not include pregnant individuals, there has been increasing real world data that vaccination against COVID, including booster vaccinations, is safe and recommended. As pregnancy increases the risk of severe disease if infected by COVID-19, both the CDC and the American College of Obstetricians and Gynecologists,² along with other specialty organizations, such as the Royal College of Obstetricians and Gynaecologists, recommend vaccinations for pregnant individuals.

The CDC goes on to describe that there is no evidence of vaccination increasing the risk of infertility. The vaccine protects the pregnant individual and also provides protection to the baby once born. The same is true of breastfeeding individuals.³

I hope that this information allows physicians to feel comfortable recommending vaccinations and boosters to those who are pregnant and breast feeding.
 

Expanded recommendations for those aged 16-17 years

Recently, the CDC also expanded booster recommendations to include those aged 16-17 years, 6 months after completing their vaccine series.

Those under 18 are currently only able to receive the Pfizer-BioNtech vaccine. This new guidance has left some parents wondering if there will also be approval for booster vaccinations soon for those aged 12-16 who are approaching or have reached six months past the initial vaccine.¹

Booster brand for those over 18 years?

Although the recommendation has been simplified for all over age 18 years, there is still a decision to be made about which vaccine to use as the booster.

The recommendations allow individuals to decide which brand of vaccine they would like to have as a booster. They may choose to be vaccinated with the same vaccine they originally received or with a different vaccine. This vaccine flexibility may cause confusion, but ultimately is a good thing as it allows individuals to receive whatever vaccine is available and most convenient. This also allows individuals who have been vaccinated outside of the United States by a different brand of vaccine to also receive a booster vaccination with one of the options available here.
 

Take home message

Overall, the expansion of booster recommendations will help everyone avoid severe disease from COVID-19 infections. Physicians now have more clarity on who should be receiving these vaccines. Along with testing, masking, and appropriate distancing, these recommendations should help prevent severe disease and death from COVID-19.

Dr. Wheat is a family physician at Erie Family Health Center in Chicago. She is program director of Northwestern’s McGaw Family Medicine residency program, also in Chicago. Dr. Wheat serves on the editorial advisory board of Family Practice News. You can contact her at fpnews@mdedge.com.

References

1. COVID-19 Vaccine Booster Shots. Centers for Disease Control and Prevention. 2021 Dec 9.

2. COVID-19 Vaccines and Pregnancy: Conversation Guide. American College of Obstetricians and Gynecologists. 2021 November.

3. COVID-19 Vaccines While Pregnant or Breastfeeding. Centers for Disease Control and Prevention. 2021 Dec 6.

In recent weeks, the Centers for Disease Control and Prevention has greatly expanded recommendations for boosters for vaccinations against COVID-19.

These recommendations have been widened because of the continued emergence of new variants of the virus and the wane of protection over time for both vaccinations and previous disease.

The new recommendations take away some of the questions surrounding eligibility for booster vaccinations while potentially leaving some additional questions. All in all, they provide flexibility for individuals to help protect themselves against the COVID-19 virus, as many are considering celebrating the holidays with friends and family.

The first item that has become clear is that all individuals over 18 are now not only eligible for a booster vaccination a certain time after they have completed their series, but have a recommendation for one.¹

But what about a fourth dose?  There is a possibility that some patients should be receiving one.  For those who require a three-dose series due to a condition that makes them immunocompromised, they should receive their booster vaccination six months after completion of the three-dose series.  This distinction  may cause confusion for some, but is important for those immunocompromised.

Boosters in women who are pregnant

The recommendations also include specific comments about individuals who are pregnant. Although initial studies did not include pregnant individuals, there has been increasing real world data that vaccination against COVID, including booster vaccinations, is safe and recommended. As pregnancy increases the risk of severe disease if infected by COVID-19, both the CDC and the American College of Obstetricians and Gynecologists,² along with other specialty organizations, such as the Royal College of Obstetricians and Gynaecologists, recommend vaccinations for pregnant individuals.

The CDC goes on to describe that there is no evidence of vaccination increasing the risk of infertility. The vaccine protects the pregnant individual and also provides protection to the baby once born. The same is true of breastfeeding individuals.³

I hope that this information allows physicians to feel comfortable recommending vaccinations and boosters to those who are pregnant and breast feeding.
 

Expanded recommendations for those aged 16-17 years

Recently, the CDC also expanded booster recommendations to include those aged 16-17 years, 6 months after completing their vaccine series.

Those under 18 are currently only able to receive the Pfizer-BioNtech vaccine. This new guidance has left some parents wondering if there will also be approval for booster vaccinations soon for those aged 12-16 who are approaching or have reached six months past the initial vaccine.¹

Booster brand for those over 18 years?

Although the recommendation has been simplified for all over age 18 years, there is still a decision to be made about which vaccine to use as the booster.

The recommendations allow individuals to decide which brand of vaccine they would like to have as a booster. They may choose to be vaccinated with the same vaccine they originally received or with a different vaccine. This vaccine flexibility may cause confusion, but ultimately is a good thing as it allows individuals to receive whatever vaccine is available and most convenient. This also allows individuals who have been vaccinated outside of the United States by a different brand of vaccine to also receive a booster vaccination with one of the options available here.
 

Take home message

Overall, the expansion of booster recommendations will help everyone avoid severe disease from COVID-19 infections. Physicians now have more clarity on who should be receiving these vaccines. Along with testing, masking, and appropriate distancing, these recommendations should help prevent severe disease and death from COVID-19.

Dr. Wheat is a family physician at Erie Family Health Center in Chicago. She is program director of Northwestern’s McGaw Family Medicine residency program, also in Chicago. Dr. Wheat serves on the editorial advisory board of Family Practice News. You can contact her at fpnews@mdedge.com.

References

1. COVID-19 Vaccine Booster Shots. Centers for Disease Control and Prevention. 2021 Dec 9.

2. COVID-19 Vaccines and Pregnancy: Conversation Guide. American College of Obstetricians and Gynecologists. 2021 November.

3. COVID-19 Vaccines While Pregnant or Breastfeeding. Centers for Disease Control and Prevention. 2021 Dec 6.

Even before their baby is born, parents face some tough questions: Home birth or hospital? Cloth or disposable diapers? Breast, bottle, or both? But advances in genetic sequencing technology mean that parents will soon face yet another choice: whether to sequence their newborn’s DNA for an overview of the baby’s entire genome.

Genetic testing has been used for decades to diagnose conditions even before birth. But DNA sequencing technologies, once expensive and tough to access, are now rapid and cheap enough that doctors could order genomic screening for any infant, regardless of health status.

The possibility has raised many questions about the ethical, legal, and social repercussions of doing so. One of the biggest sticking points of sequencing newborns is the potential psychosocial fallout for families of such wide-scale use of genetic screening.

“There’s a narrative of catastrophic distress,” says Robert Green, MD, a geneticist at Harvard Medical School and lead investigator on the BabySeq study, which is evaluating the medical, social, and economic consequences of newborn genetic screening. The concern is that parents learning that their child carries a gene variant related to cancer or heart disease will become “incredibly anxious and distressed,” he says. “And it’s not an unreasonable speculation.”

But Dr. Green’s team found no evidence of such anxiety in the results from a randomized trial it conducted, published in JAMA Pediatrics. In the meantime, Genomics England announced it would begin a pilot study involving whole-genome sequencing of up to 200,000 babies. The first goal is to identify severe disease that starts in childhood, but the information would also be stored and used to detect drug sensitivities and conditions that come up later in life.

The large U.K. project is a bold move, according to David Amor, PhD, a pediatric geneticist at Murdoch Children’s Research Institute in Australia, who says its time has come. Geneticists have been accused of thinking their field involves unique pitfalls, compared with the rest of medicine, he points out, and that doctors need to protect patients and families from the potential harm genetic testing poses.

“But it is becoming apparent that that’s not really the case,” he says, and “maybe there’s not a whole lot special about genetics – it’s just medicine.”

When a first-draft copy of the human genome was published in 2001, scientists and doctors hailed the start of a new era of precision medicine. Knowing our genome sequence was expected to lead to a better grasp on our individual disease risks. Yet even as technologies advanced, clinical genetics remained focused on diagnosis rather than screening, according to Lilian Downie, a clinical genetics PhD candidate at the University of Melbourne. She calls the difference subtle but important.

Diagnostic genetic testing confirms whether a person has a specific condition, whereas genetic screening tests evaluate someone’s risk of getting an illness. Both approaches use sequencing, but they answer different questions, explains Ms. Downie.
 

Diagnosing disease versus predicting future illness

Genetic testing is on the upswing for both purposes, whether clinically for diagnosis or through direct-to-consumer screening-oriented services like 23andMe. Scientists began to note that many people carried disease-related genetic variants without having signs of disease. In some cases, a variant that is mathematically linked to a disease simply doesn’t cause it. In other cases, though, even if the gene variant contributes to a disease, not everyone who carries the genetic change will get the condition.

This potential disconnect between having a variant and developing the condition is a big problem, says Katie Stoll, a genetic counselor and executive director of the Genetic Support Foundation in Olympia, WA.

“It’s more complicated than just looking at one gene variant and one outcome,” she says. Without a sure link between the two, this information could unnecessarily entail “some pretty big emotional and financial costs.”

Ms. Stoll and others in the genetics field who share similar concerns are one reason the BabySeq project was first funded back in 2015. Although the overall aim of the initiative is to answer questions about the value of genomic sequencing in newborn screening, the media and scientific attention has focused on the psychosocial impact of healthy newborn sequencing, says Dr. Green. In the study published in JAMA Pediatrics, his group focused on these issues, too.

For that randomized trial, they enrolled 325 families, 257 with healthy babies and 68 whose babies had spent time in neonatal intensive care. Enrolled infants were randomly given standard care alone or standard care with genomic sequencing added on. The genomic sequencing report contained information about the presence of genetic variants associated with disease that start in childhood. Parents also could choose whether to learn about genetic risks for conditions that start in adulthood, such as cancer.

Boston-based Tina Moniz was one of those parents. When her first daughter was born in Jan. 2016, someone from the BabySeq study asked her and her husband if they would like to take part. The decision was simple for the couple.

“I didn’t hesitate,” she says. “To me, knowledge is power.”

Using screening tools for parental and marital distress and parent-child bonding, the research evaluated BabySeq families at 3 and 10 months after parents received the sequencing results. The investigators found no significant differences in any of these measures between screened and unscreened families. Ms. Moniz learned that her daughter’s only concerning result was being a carrier for cystic fibrosis. Rather than finding this information anxiety-provoking, Ms. Moniz considered it to be reassuring.

“My mom brain worries about so many things, but at least I know I don’t have to add genetic disease to the list,” she says.

But Ms. Stoll, who wasn’t involved in the BabySeq study, isn’t as convinced. She says that less than 10% of the families approached about the trial ultimately agreed to take part, suggesting potential bias in the selection process. Most participants were white, well-educated, and well-off, making it hard to generalize the study’s results.

What’s more, the standard care involved meeting with a genetic counselor and giving a detailed family history, neither of which is routinely offered to new parents, Ms. Stoll says. These study features leave her unconvinced that healthy newborn genetic screening is beneficial.

“We can’t assume these psychosocial consequences will be true for everyone,” she says.
 

Follow-up and treatment needed

Traditional newborn screening relies on blood biochemical tests to detect and diagnose metabolic diseases. This approach still outperforms DNA sequencing in trials, says Cynthia Powell, MD, a pediatric geneticist at the University of North Carolina at Chapel Hill, who wasn’t involved with the BabySeq study. Despite the enthusiasm for genomics, this kind of screening won’t replace newborn biochemical screening anytime soon, she says.

“There are some states that have only one geneticist available, so should we really be doing this if we can’t provide the necessary follow-up and treatment for these babies?” she asks.

Still, Dr. Powell says, the BabySeq study helps advance understanding of what the infrastructure needs are for widespread use of DNA sequencing in newborns. She says those needs include appropriate consent processes, access to genetic counselors to discuss testing, and referrals for further testing and treatment in those babies with concerning results.

The BabySeq program will also guide new initiatives, like the pilot program that Genomics England launched in Sept. 2021. As part of that project, the U.K. group intends to look into how practical whole-genome sequencing for newborn screening would be and look at the risks, benefits, and limits of its widespread use.

“For the first time, we’re putting real data into these questions that people have basically just speculated and hypothesized and created narratives about,” Dr. Green says.

But for now, the findings on the psychosocial effects of general newborn genomic screening show that “we should consider genetics to be just one more arrow in our medical quiver.”

A version of this article first appeared on WebMD.com.

Even before their baby is born, parents face some tough questions: Home birth or hospital? Cloth or disposable diapers? Breast, bottle, or both? But advances in genetic sequencing technology mean that parents will soon face yet another choice: whether to sequence their newborn’s DNA for an overview of the baby’s entire genome.

Genetic testing has been used for decades to diagnose conditions even before birth. But DNA sequencing technologies, once expensive and tough to access, are now rapid and cheap enough that doctors could order genomic screening for any infant, regardless of health status.

The possibility has raised many questions about the ethical, legal, and social repercussions of doing so. One of the biggest sticking points of sequencing newborns is the potential psychosocial fallout for families of such wide-scale use of genetic screening.

“There’s a narrative of catastrophic distress,” says Robert Green, MD, a geneticist at Harvard Medical School and lead investigator on the BabySeq study, which is evaluating the medical, social, and economic consequences of newborn genetic screening. The concern is that parents learning that their child carries a gene variant related to cancer or heart disease will become “incredibly anxious and distressed,” he says. “And it’s not an unreasonable speculation.”

But Dr. Green’s team found no evidence of such anxiety in the results from a randomized trial it conducted, published in JAMA Pediatrics. In the meantime, Genomics England announced it would begin a pilot study involving whole-genome sequencing of up to 200,000 babies. The first goal is to identify severe disease that starts in childhood, but the information would also be stored and used to detect drug sensitivities and conditions that come up later in life.

The large U.K. project is a bold move, according to David Amor, PhD, a pediatric geneticist at Murdoch Children’s Research Institute in Australia, who says its time has come. Geneticists have been accused of thinking their field involves unique pitfalls, compared with the rest of medicine, he points out, and that doctors need to protect patients and families from the potential harm genetic testing poses.

“But it is becoming apparent that that’s not really the case,” he says, and “maybe there’s not a whole lot special about genetics – it’s just medicine.”

When a first-draft copy of the human genome was published in 2001, scientists and doctors hailed the start of a new era of precision medicine. Knowing our genome sequence was expected to lead to a better grasp on our individual disease risks. Yet even as technologies advanced, clinical genetics remained focused on diagnosis rather than screening, according to Lilian Downie, a clinical genetics PhD candidate at the University of Melbourne. She calls the difference subtle but important.

Diagnostic genetic testing confirms whether a person has a specific condition, whereas genetic screening tests evaluate someone’s risk of getting an illness. Both approaches use sequencing, but they answer different questions, explains Ms. Downie.
 

Diagnosing disease versus predicting future illness

Genetic testing is on the upswing for both purposes, whether clinically for diagnosis or through direct-to-consumer screening-oriented services like 23andMe. Scientists began to note that many people carried disease-related genetic variants without having signs of disease. In some cases, a variant that is mathematically linked to a disease simply doesn’t cause it. In other cases, though, even if the gene variant contributes to a disease, not everyone who carries the genetic change will get the condition.

This potential disconnect between having a variant and developing the condition is a big problem, says Katie Stoll, a genetic counselor and executive director of the Genetic Support Foundation in Olympia, WA.

“It’s more complicated than just looking at one gene variant and one outcome,” she says. Without a sure link between the two, this information could unnecessarily entail “some pretty big emotional and financial costs.”

Ms. Stoll and others in the genetics field who share similar concerns are one reason the BabySeq project was first funded back in 2015. Although the overall aim of the initiative is to answer questions about the value of genomic sequencing in newborn screening, the media and scientific attention has focused on the psychosocial impact of healthy newborn sequencing, says Dr. Green. In the study published in JAMA Pediatrics, his group focused on these issues, too.

For that randomized trial, they enrolled 325 families, 257 with healthy babies and 68 whose babies had spent time in neonatal intensive care. Enrolled infants were randomly given standard care alone or standard care with genomic sequencing added on. The genomic sequencing report contained information about the presence of genetic variants associated with disease that start in childhood. Parents also could choose whether to learn about genetic risks for conditions that start in adulthood, such as cancer.

Boston-based Tina Moniz was one of those parents. When her first daughter was born in Jan. 2016, someone from the BabySeq study asked her and her husband if they would like to take part. The decision was simple for the couple.

“I didn’t hesitate,” she says. “To me, knowledge is power.”

Using screening tools for parental and marital distress and parent-child bonding, the research evaluated BabySeq families at 3 and 10 months after parents received the sequencing results. The investigators found no significant differences in any of these measures between screened and unscreened families. Ms. Moniz learned that her daughter’s only concerning result was being a carrier for cystic fibrosis. Rather than finding this information anxiety-provoking, Ms. Moniz considered it to be reassuring.

“My mom brain worries about so many things, but at least I know I don’t have to add genetic disease to the list,” she says.

But Ms. Stoll, who wasn’t involved in the BabySeq study, isn’t as convinced. She says that less than 10% of the families approached about the trial ultimately agreed to take part, suggesting potential bias in the selection process. Most participants were white, well-educated, and well-off, making it hard to generalize the study’s results.

What’s more, the standard care involved meeting with a genetic counselor and giving a detailed family history, neither of which is routinely offered to new parents, Ms. Stoll says. These study features leave her unconvinced that healthy newborn genetic screening is beneficial.

“We can’t assume these psychosocial consequences will be true for everyone,” she says.
 

Follow-up and treatment needed

Traditional newborn screening relies on blood biochemical tests to detect and diagnose metabolic diseases. This approach still outperforms DNA sequencing in trials, says Cynthia Powell, MD, a pediatric geneticist at the University of North Carolina at Chapel Hill, who wasn’t involved with the BabySeq study. Despite the enthusiasm for genomics, this kind of screening won’t replace newborn biochemical screening anytime soon, she says.

“There are some states that have only one geneticist available, so should we really be doing this if we can’t provide the necessary follow-up and treatment for these babies?” she asks.

Still, Dr. Powell says, the BabySeq study helps advance understanding of what the infrastructure needs are for widespread use of DNA sequencing in newborns. She says those needs include appropriate consent processes, access to genetic counselors to discuss testing, and referrals for further testing and treatment in those babies with concerning results.

The BabySeq program will also guide new initiatives, like the pilot program that Genomics England launched in Sept. 2021. As part of that project, the U.K. group intends to look into how practical whole-genome sequencing for newborn screening would be and look at the risks, benefits, and limits of its widespread use.

“For the first time, we’re putting real data into these questions that people have basically just speculated and hypothesized and created narratives about,” Dr. Green says.

But for now, the findings on the psychosocial effects of general newborn genomic screening show that “we should consider genetics to be just one more arrow in our medical quiver.”

A version of this article first appeared on WebMD.com.

Even before their baby is born, parents face some tough questions: Home birth or hospital? Cloth or disposable diapers? Breast, bottle, or both? But advances in genetic sequencing technology mean that parents will soon face yet another choice: whether to sequence their newborn’s DNA for an overview of the baby’s entire genome.

Genetic testing has been used for decades to diagnose conditions even before birth. But DNA sequencing technologies, once expensive and tough to access, are now rapid and cheap enough that doctors could order genomic screening for any infant, regardless of health status.

The possibility has raised many questions about the ethical, legal, and social repercussions of doing so. One of the biggest sticking points of sequencing newborns is the potential psychosocial fallout for families of such wide-scale use of genetic screening.

“There’s a narrative of catastrophic distress,” says Robert Green, MD, a geneticist at Harvard Medical School and lead investigator on the BabySeq study, which is evaluating the medical, social, and economic consequences of newborn genetic screening. The concern is that parents learning that their child carries a gene variant related to cancer or heart disease will become “incredibly anxious and distressed,” he says. “And it’s not an unreasonable speculation.”

But Dr. Green’s team found no evidence of such anxiety in the results from a randomized trial it conducted, published in JAMA Pediatrics. In the meantime, Genomics England announced it would begin a pilot study involving whole-genome sequencing of up to 200,000 babies. The first goal is to identify severe disease that starts in childhood, but the information would also be stored and used to detect drug sensitivities and conditions that come up later in life.

The large U.K. project is a bold move, according to David Amor, PhD, a pediatric geneticist at Murdoch Children’s Research Institute in Australia, who says its time has come. Geneticists have been accused of thinking their field involves unique pitfalls, compared with the rest of medicine, he points out, and that doctors need to protect patients and families from the potential harm genetic testing poses.

“But it is becoming apparent that that’s not really the case,” he says, and “maybe there’s not a whole lot special about genetics – it’s just medicine.”

When a first-draft copy of the human genome was published in 2001, scientists and doctors hailed the start of a new era of precision medicine. Knowing our genome sequence was expected to lead to a better grasp on our individual disease risks. Yet even as technologies advanced, clinical genetics remained focused on diagnosis rather than screening, according to Lilian Downie, a clinical genetics PhD candidate at the University of Melbourne. She calls the difference subtle but important.

Diagnostic genetic testing confirms whether a person has a specific condition, whereas genetic screening tests evaluate someone’s risk of getting an illness. Both approaches use sequencing, but they answer different questions, explains Ms. Downie.
 

Diagnosing disease versus predicting future illness

Genetic testing is on the upswing for both purposes, whether clinically for diagnosis or through direct-to-consumer screening-oriented services like 23andMe. Scientists began to note that many people carried disease-related genetic variants without having signs of disease. In some cases, a variant that is mathematically linked to a disease simply doesn’t cause it. In other cases, though, even if the gene variant contributes to a disease, not everyone who carries the genetic change will get the condition.

This potential disconnect between having a variant and developing the condition is a big problem, says Katie Stoll, a genetic counselor and executive director of the Genetic Support Foundation in Olympia, WA.

“It’s more complicated than just looking at one gene variant and one outcome,” she says. Without a sure link between the two, this information could unnecessarily entail “some pretty big emotional and financial costs.”

Ms. Stoll and others in the genetics field who share similar concerns are one reason the BabySeq project was first funded back in 2015. Although the overall aim of the initiative is to answer questions about the value of genomic sequencing in newborn screening, the media and scientific attention has focused on the psychosocial impact of healthy newborn sequencing, says Dr. Green. In the study published in JAMA Pediatrics, his group focused on these issues, too.

For that randomized trial, they enrolled 325 families, 257 with healthy babies and 68 whose babies had spent time in neonatal intensive care. Enrolled infants were randomly given standard care alone or standard care with genomic sequencing added on. The genomic sequencing report contained information about the presence of genetic variants associated with disease that start in childhood. Parents also could choose whether to learn about genetic risks for conditions that start in adulthood, such as cancer.

Boston-based Tina Moniz was one of those parents. When her first daughter was born in Jan. 2016, someone from the BabySeq study asked her and her husband if they would like to take part. The decision was simple for the couple.

“I didn’t hesitate,” she says. “To me, knowledge is power.”

Using screening tools for parental and marital distress and parent-child bonding, the research evaluated BabySeq families at 3 and 10 months after parents received the sequencing results. The investigators found no significant differences in any of these measures between screened and unscreened families. Ms. Moniz learned that her daughter’s only concerning result was being a carrier for cystic fibrosis. Rather than finding this information anxiety-provoking, Ms. Moniz considered it to be reassuring.

“My mom brain worries about so many things, but at least I know I don’t have to add genetic disease to the list,” she says.

But Ms. Stoll, who wasn’t involved in the BabySeq study, isn’t as convinced. She says that less than 10% of the families approached about the trial ultimately agreed to take part, suggesting potential bias in the selection process. Most participants were white, well-educated, and well-off, making it hard to generalize the study’s results.

What’s more, the standard care involved meeting with a genetic counselor and giving a detailed family history, neither of which is routinely offered to new parents, Ms. Stoll says. These study features leave her unconvinced that healthy newborn genetic screening is beneficial.

“We can’t assume these psychosocial consequences will be true for everyone,” she says.
 

Follow-up and treatment needed

Traditional newborn screening relies on blood biochemical tests to detect and diagnose metabolic diseases. This approach still outperforms DNA sequencing in trials, says Cynthia Powell, MD, a pediatric geneticist at the University of North Carolina at Chapel Hill, who wasn’t involved with the BabySeq study. Despite the enthusiasm for genomics, this kind of screening won’t replace newborn biochemical screening anytime soon, she says.

“There are some states that have only one geneticist available, so should we really be doing this if we can’t provide the necessary follow-up and treatment for these babies?” she asks.

Still, Dr. Powell says, the BabySeq study helps advance understanding of what the infrastructure needs are for widespread use of DNA sequencing in newborns. She says those needs include appropriate consent processes, access to genetic counselors to discuss testing, and referrals for further testing and treatment in those babies with concerning results.

The BabySeq program will also guide new initiatives, like the pilot program that Genomics England launched in Sept. 2021. As part of that project, the U.K. group intends to look into how practical whole-genome sequencing for newborn screening would be and look at the risks, benefits, and limits of its widespread use.

“For the first time, we’re putting real data into these questions that people have basically just speculated and hypothesized and created narratives about,” Dr. Green says.

But for now, the findings on the psychosocial effects of general newborn genomic screening show that “we should consider genetics to be just one more arrow in our medical quiver.”

A version of this article first appeared on WebMD.com.

Mothers who use cannabis during pregnancy risk disrupting immune gene networks in the placenta and potentially increasing the risk of anxiety and hyperactivity in their children.

These findings emerged from a study led by Yasmin Hurd, PhD, a professor of psychiatry and director of the Addiction Institute at the Icahn School of Medicine at Mount Sinai, New York, and Yoko Nomura, PhD, a professor of behavioral neuroscience at Queen’s College, City University of New York, that was published online in Proceedings of the National Academy of Sciences.

The analysis assessed the effects of gestational maternal cannabis use on psychosocial and physiological measures in young children as well as its potentially immunomodulatory effect on the in utero environment as reflected in the placental transcriptome.

Participants were drawn from a larger cohort in a study launched in 2012; the investigators evaluated offspring aged 3-6 years for hair hormone levels, neurobehavioral traits on the Behavioral Assessment System for Children survey, and heart rate variability (HRV) at rest and during auditory startle.

The cohort consisted of 322 mother-child dyads and children with prenatal exposure to cannabis were compared with those having no exposure. The cohort consisted of 251 non–cannabis-using mothers and 71 cannabis-using mothers, with mean maternal ages in the two groups of 28.46 years and 25.91 years, respectively, The mothers gave birth at Mount Sinai and they and their children were assessed annually at affiliated medical centers in Mount Sinai’s catchment area.

For a subset of children with behavioral assessments, placental specimens collected at birth were processed for RNA sequencing.

Among the findings:

• Maternal cannabis use was associated with reduced maternal and paternal age, more single-mother pregnancies, state anxiety, trait anxiety, depression, cigarette smoking, and African American race.
• Hair hormone analysis revealed increased cortisol levels in the children of cannabis-using mothers, and was associated with greater anxiety, aggression, and hyperactivity.
• Affected children showed a reduction in the high-frequency component of HRV at baseline, reflecting reduced vagal tone.
• In the placenta, there was reduced expression of many genes involved in immune system function. These included genes for type I interferon, neutrophil, and cytokine-signaling pathways.

Several of these genes organized into coexpression networks that correlated with child anxiety and hyperactivity.

The principal active component of cannabis, tetrahydrocannabinol (THC), targets the endocannabinoid system in placental tissue and the developing brain, the authors noted. Exposure during pregnancy is associated with a range of adverse outcomes from fetal growth restriction to low birth weight and preterm birth.

“There are cannabinoid receptors on immune cells, and it is known that cannabinoids can alter immune function, which is important for maintaining maternal tolerance and protecting the fetus,” Dr. Hurd said. “It’s not surprising that something that affects the immune cells can have an impact on the developing fetus.”

“Overall, our findings reveal a relationship between [maternal cannabis use] and immune response gene networks in the placenta as a potential mediator of risk for anxiety-related problems in early childhood,” Dr. Hurd and colleagues wrote, adding that the results have significant implications for defining mental health issues in the children gestated by cannabis-smoking mothers.

Their results align with previous research indicating a greater risk for psychiatric illness in children with prenatal cannabis exposure from maternal use.

“While data are pretty limited in this realm, there are other studies that demonstrate a relationship between early child developmental and behavioral measures and cannabis use during pregnancy,” Camille Hoffman, MD, MSc, a high-risk obstetrics specialist and an associate professor at the University of Colorado at Denver, Aurora, said in an interview. “Our research group found children exposed to cannabis in utero at 10 weeks’ gestation and beyond were less interactive and more withdrawn than children who were not exposed.”

And THC remains in maternal breast milk even 6 weeks after usage stops.

The long-term effects of prenatal cannabis exposure remain to be determined and it is unknown whether the effects of gestational THC might attenuate as a child grows older. “We use early childhood measures in research as a proxy for the later development of diagnosed mental health conditions or behavioral problems,” Dr. Hoffman explained. “We know when we do this that not every child with an abnormal score early will go on to develop an actual condition. Fortunately, or unfortunately, other factors and exposures during childhood can change the trajectory for the better or worse.”

According to Dr. Hurd, child development is a dynamic process and epigenetic events in utero need not be deterministic. “The important thing is to identify children at risk early and to be able to go in and try to improve the environment they’re being raised in – not in terms of impoverishment but in terms of positive nurturing and giving the mother and family support.”

At the prenatal level, what’s the best advice for cannabis-using mothers-to-be? “If a woman doesn’t know she’s pregnant and has been using cannabis, taking extra choline for the remainder of the pregnancy can help buffer the potential negative impact of the cannabis exposure,” Dr. Hoffman said. The Food and Drug Administration and the American Medical Association recommend a dose of 550 mg daily. “The same is true for alcohol, which we know is also very bad for fetal brain development. This is not to say go ahead and use these substances and just take choline. The choline is more to try and salvage damage to the fetal brain that may have already occurred.”

This study was supported by the National Institute of Mental Health and the National Institute on Drug Abuse. The authors declared no competing interests. Dr. Hoffman disclosed no conflicts of interest with respect to her comments.

Mothers who use cannabis during pregnancy risk disrupting immune gene networks in the placenta and potentially increasing the risk of anxiety and hyperactivity in their children.

These findings emerged from a study led by Yasmin Hurd, PhD, a professor of psychiatry and director of the Addiction Institute at the Icahn School of Medicine at Mount Sinai, New York, and Yoko Nomura, PhD, a professor of behavioral neuroscience at Queen’s College, City University of New York, that was published online in Proceedings of the National Academy of Sciences.

The analysis assessed the effects of gestational maternal cannabis use on psychosocial and physiological measures in young children as well as its potentially immunomodulatory effect on the in utero environment as reflected in the placental transcriptome.

Participants were drawn from a larger cohort in a study launched in 2012; the investigators evaluated offspring aged 3-6 years for hair hormone levels, neurobehavioral traits on the Behavioral Assessment System for Children survey, and heart rate variability (HRV) at rest and during auditory startle.

The cohort consisted of 322 mother-child dyads and children with prenatal exposure to cannabis were compared with those having no exposure. The cohort consisted of 251 non–cannabis-using mothers and 71 cannabis-using mothers, with mean maternal ages in the two groups of 28.46 years and 25.91 years, respectively, The mothers gave birth at Mount Sinai and they and their children were assessed annually at affiliated medical centers in Mount Sinai’s catchment area.

For a subset of children with behavioral assessments, placental specimens collected at birth were processed for RNA sequencing.

Among the findings:

• Maternal cannabis use was associated with reduced maternal and paternal age, more single-mother pregnancies, state anxiety, trait anxiety, depression, cigarette smoking, and African American race.
• Hair hormone analysis revealed increased cortisol levels in the children of cannabis-using mothers, and was associated with greater anxiety, aggression, and hyperactivity.
• Affected children showed a reduction in the high-frequency component of HRV at baseline, reflecting reduced vagal tone.
• In the placenta, there was reduced expression of many genes involved in immune system function. These included genes for type I interferon, neutrophil, and cytokine-signaling pathways.

Several of these genes organized into coexpression networks that correlated with child anxiety and hyperactivity.

The principal active component of cannabis, tetrahydrocannabinol (THC), targets the endocannabinoid system in placental tissue and the developing brain, the authors noted. Exposure during pregnancy is associated with a range of adverse outcomes from fetal growth restriction to low birth weight and preterm birth.

“There are cannabinoid receptors on immune cells, and it is known that cannabinoids can alter immune function, which is important for maintaining maternal tolerance and protecting the fetus,” Dr. Hurd said. “It’s not surprising that something that affects the immune cells can have an impact on the developing fetus.”

“Overall, our findings reveal a relationship between [maternal cannabis use] and immune response gene networks in the placenta as a potential mediator of risk for anxiety-related problems in early childhood,” Dr. Hurd and colleagues wrote, adding that the results have significant implications for defining mental health issues in the children gestated by cannabis-smoking mothers.

Their results align with previous research indicating a greater risk for psychiatric illness in children with prenatal cannabis exposure from maternal use.

“While data are pretty limited in this realm, there are other studies that demonstrate a relationship between early child developmental and behavioral measures and cannabis use during pregnancy,” Camille Hoffman, MD, MSc, a high-risk obstetrics specialist and an associate professor at the University of Colorado at Denver, Aurora, said in an interview. “Our research group found children exposed to cannabis in utero at 10 weeks’ gestation and beyond were less interactive and more withdrawn than children who were not exposed.”

And THC remains in maternal breast milk even 6 weeks after usage stops.

The long-term effects of prenatal cannabis exposure remain to be determined and it is unknown whether the effects of gestational THC might attenuate as a child grows older. “We use early childhood measures in research as a proxy for the later development of diagnosed mental health conditions or behavioral problems,” Dr. Hoffman explained. “We know when we do this that not every child with an abnormal score early will go on to develop an actual condition. Fortunately, or unfortunately, other factors and exposures during childhood can change the trajectory for the better or worse.”

According to Dr. Hurd, child development is a dynamic process and epigenetic events in utero need not be deterministic. “The important thing is to identify children at risk early and to be able to go in and try to improve the environment they’re being raised in – not in terms of impoverishment but in terms of positive nurturing and giving the mother and family support.”

At the prenatal level, what’s the best advice for cannabis-using mothers-to-be? “If a woman doesn’t know she’s pregnant and has been using cannabis, taking extra choline for the remainder of the pregnancy can help buffer the potential negative impact of the cannabis exposure,” Dr. Hoffman said. The Food and Drug Administration and the American Medical Association recommend a dose of 550 mg daily. “The same is true for alcohol, which we know is also very bad for fetal brain development. This is not to say go ahead and use these substances and just take choline. The choline is more to try and salvage damage to the fetal brain that may have already occurred.”

This study was supported by the National Institute of Mental Health and the National Institute on Drug Abuse. The authors declared no competing interests. Dr. Hoffman disclosed no conflicts of interest with respect to her comments.

Mothers who use cannabis during pregnancy risk disrupting immune gene networks in the placenta and potentially increasing the risk of anxiety and hyperactivity in their children.

These findings emerged from a study led by Yasmin Hurd, PhD, a professor of psychiatry and director of the Addiction Institute at the Icahn School of Medicine at Mount Sinai, New York, and Yoko Nomura, PhD, a professor of behavioral neuroscience at Queen’s College, City University of New York, that was published online in Proceedings of the National Academy of Sciences.

The analysis assessed the effects of gestational maternal cannabis use on psychosocial and physiological measures in young children as well as its potentially immunomodulatory effect on the in utero environment as reflected in the placental transcriptome.

Participants were drawn from a larger cohort in a study launched in 2012; the investigators evaluated offspring aged 3-6 years for hair hormone levels, neurobehavioral traits on the Behavioral Assessment System for Children survey, and heart rate variability (HRV) at rest and during auditory startle.

The cohort consisted of 322 mother-child dyads and children with prenatal exposure to cannabis were compared with those having no exposure. The cohort consisted of 251 non–cannabis-using mothers and 71 cannabis-using mothers, with mean maternal ages in the two groups of 28.46 years and 25.91 years, respectively, The mothers gave birth at Mount Sinai and they and their children were assessed annually at affiliated medical centers in Mount Sinai’s catchment area.

For a subset of children with behavioral assessments, placental specimens collected at birth were processed for RNA sequencing.

Among the findings:

• Maternal cannabis use was associated with reduced maternal and paternal age, more single-mother pregnancies, state anxiety, trait anxiety, depression, cigarette smoking, and African American race.
• Hair hormone analysis revealed increased cortisol levels in the children of cannabis-using mothers, and was associated with greater anxiety, aggression, and hyperactivity.
• Affected children showed a reduction in the high-frequency component of HRV at baseline, reflecting reduced vagal tone.
• In the placenta, there was reduced expression of many genes involved in immune system function. These included genes for type I interferon, neutrophil, and cytokine-signaling pathways.

Several of these genes organized into coexpression networks that correlated with child anxiety and hyperactivity.

The principal active component of cannabis, tetrahydrocannabinol (THC), targets the endocannabinoid system in placental tissue and the developing brain, the authors noted. Exposure during pregnancy is associated with a range of adverse outcomes from fetal growth restriction to low birth weight and preterm birth.

“There are cannabinoid receptors on immune cells, and it is known that cannabinoids can alter immune function, which is important for maintaining maternal tolerance and protecting the fetus,” Dr. Hurd said. “It’s not surprising that something that affects the immune cells can have an impact on the developing fetus.”

“Overall, our findings reveal a relationship between [maternal cannabis use] and immune response gene networks in the placenta as a potential mediator of risk for anxiety-related problems in early childhood,” Dr. Hurd and colleagues wrote, adding that the results have significant implications for defining mental health issues in the children gestated by cannabis-smoking mothers.

Their results align with previous research indicating a greater risk for psychiatric illness in children with prenatal cannabis exposure from maternal use.

“While data are pretty limited in this realm, there are other studies that demonstrate a relationship between early child developmental and behavioral measures and cannabis use during pregnancy,” Camille Hoffman, MD, MSc, a high-risk obstetrics specialist and an associate professor at the University of Colorado at Denver, Aurora, said in an interview. “Our research group found children exposed to cannabis in utero at 10 weeks’ gestation and beyond were less interactive and more withdrawn than children who were not exposed.”

And THC remains in maternal breast milk even 6 weeks after usage stops.

The long-term effects of prenatal cannabis exposure remain to be determined and it is unknown whether the effects of gestational THC might attenuate as a child grows older. “We use early childhood measures in research as a proxy for the later development of diagnosed mental health conditions or behavioral problems,” Dr. Hoffman explained. “We know when we do this that not every child with an abnormal score early will go on to develop an actual condition. Fortunately, or unfortunately, other factors and exposures during childhood can change the trajectory for the better or worse.”

According to Dr. Hurd, child development is a dynamic process and epigenetic events in utero need not be deterministic. “The important thing is to identify children at risk early and to be able to go in and try to improve the environment they’re being raised in – not in terms of impoverishment but in terms of positive nurturing and giving the mother and family support.”

At the prenatal level, what’s the best advice for cannabis-using mothers-to-be? “If a woman doesn’t know she’s pregnant and has been using cannabis, taking extra choline for the remainder of the pregnancy can help buffer the potential negative impact of the cannabis exposure,” Dr. Hoffman said. The Food and Drug Administration and the American Medical Association recommend a dose of 550 mg daily. “The same is true for alcohol, which we know is also very bad for fetal brain development. This is not to say go ahead and use these substances and just take choline. The choline is more to try and salvage damage to the fetal brain that may have already occurred.”

This study was supported by the National Institute of Mental Health and the National Institute on Drug Abuse. The authors declared no competing interests. Dr. Hoffman disclosed no conflicts of interest with respect to her comments.

How much did you get per tooth from the Tooth Fairy? How much do your children or grandchildren receive each time they lose a baby tooth? In my family the Tooth Fairy seems to be more than keeping with inflation. Has she ever been caught in the act of swapping cash for enamel in your home? Has she every slipped up one night but managed to resurrect her credibility the following night by doubling the reward? And, by the way, what does the Tooth Fairy do with all those teeth, and who’s funding her nocturnal switcheroos?

A recent study from the Center for Genomic Medicine at the Massachusetts General Hospital in Boston may provide an answer to at least one of those questions. It turns out some researchers have been collecting baby teeth in hopes of assessing prenatal and perinatal stress in infants.

Not surprisingly, teeth are like trees, preserving a history of the environment in their growth rings. The Boston researchers hypothesized that the thickness of one particular growth line referred to as the neonatal line (NNL) might reflect prenatal and immediate postnatal environmental stress. Using data and naturally shed teeth collected in an English longitudinal study, the authors discovered that the teeth of children whose mothers had a long history of severe depression or other psychiatric problems and children of mothers who at 32 weeks’ gestation experienced anxiety and/or depression were more likely to have thicker NNLs. On the other hand, the teeth of children whose mothers had received “significant social support” in the immediate postnatal period exhibited thinner NNLs.

Based on anecdotal observations, I think most of us already suspected that the children whose mothers had significant psychiatric illness began life with a challenge, but it is nice to know that we may now have a tool to document one small bit of evidence of the structural damage that occurred during this period of stress. Of course, the prior owners of these baby teeth won’t benefit from the findings in this study; however, the evidence that social support during the critical perinatal period can ameliorate the damage might stimulate more robust prenatal programs for mother and infants at risk in the future.

It will be interesting to see if this investigative tool becomes more widely used to determine the degree to which a variety of potential perinatal stressors are manifesting themselves in structural change in newborns. For example, collecting baby teeth from neonatal ICU graduates may answer some questions about how certain environmental conditions such as sound, vibration, bright light, and temperature may result in long-term damage to the infants. Most of us suspect that skin-to-skin contact with mother and kangaroo care are beneficial. A study that includes a survey of NNLs might go a long way toward supporting our suspicions.

I can even imagine that a deep retrospective study of NNLs in baby teeth collected over the last 100 years might demonstrate the effect of phenomena such as wars, natural disasters, forced migration, and pandemics, to name a few.

It may be time to put out a nationwide call to all Tooth Fairies both active and retired to dig deep in their top bureau drawers. Those little bits of long-forgotten enamel may hold the answers to a plethora of unanswered questions about those critical months surrounding the birth of a child.

Dr. Wilkoff practiced primary care pediatrics in Brunswick, Maine, for nearly 40 years. He has authored several books on behavioral pediatrics, including “How to Say No to Your Toddler.” Other than a Littman stethoscope he accepted as a first-year medical student in 1966, Dr. Wilkoff reports having nothing to disclose. Email him at pdnews@mdedge.com.

How much did you get per tooth from the Tooth Fairy? How much do your children or grandchildren receive each time they lose a baby tooth? In my family the Tooth Fairy seems to be more than keeping with inflation. Has she ever been caught in the act of swapping cash for enamel in your home? Has she every slipped up one night but managed to resurrect her credibility the following night by doubling the reward? And, by the way, what does the Tooth Fairy do with all those teeth, and who’s funding her nocturnal switcheroos?

A recent study from the Center for Genomic Medicine at the Massachusetts General Hospital in Boston may provide an answer to at least one of those questions. It turns out some researchers have been collecting baby teeth in hopes of assessing prenatal and perinatal stress in infants.

Not surprisingly, teeth are like trees, preserving a history of the environment in their growth rings. The Boston researchers hypothesized that the thickness of one particular growth line referred to as the neonatal line (NNL) might reflect prenatal and immediate postnatal environmental stress. Using data and naturally shed teeth collected in an English longitudinal study, the authors discovered that the teeth of children whose mothers had a long history of severe depression or other psychiatric problems and children of mothers who at 32 weeks’ gestation experienced anxiety and/or depression were more likely to have thicker NNLs. On the other hand, the teeth of children whose mothers had received “significant social support” in the immediate postnatal period exhibited thinner NNLs.

Based on anecdotal observations, I think most of us already suspected that the children whose mothers had significant psychiatric illness began life with a challenge, but it is nice to know that we may now have a tool to document one small bit of evidence of the structural damage that occurred during this period of stress. Of course, the prior owners of these baby teeth won’t benefit from the findings in this study; however, the evidence that social support during the critical perinatal period can ameliorate the damage might stimulate more robust prenatal programs for mother and infants at risk in the future.

It will be interesting to see if this investigative tool becomes more widely used to determine the degree to which a variety of potential perinatal stressors are manifesting themselves in structural change in newborns. For example, collecting baby teeth from neonatal ICU graduates may answer some questions about how certain environmental conditions such as sound, vibration, bright light, and temperature may result in long-term damage to the infants. Most of us suspect that skin-to-skin contact with mother and kangaroo care are beneficial. A study that includes a survey of NNLs might go a long way toward supporting our suspicions.

I can even imagine that a deep retrospective study of NNLs in baby teeth collected over the last 100 years might demonstrate the effect of phenomena such as wars, natural disasters, forced migration, and pandemics, to name a few.

It may be time to put out a nationwide call to all Tooth Fairies both active and retired to dig deep in their top bureau drawers. Those little bits of long-forgotten enamel may hold the answers to a plethora of unanswered questions about those critical months surrounding the birth of a child.

Dr. Wilkoff practiced primary care pediatrics in Brunswick, Maine, for nearly 40 years. He has authored several books on behavioral pediatrics, including “How to Say No to Your Toddler.” Other than a Littman stethoscope he accepted as a first-year medical student in 1966, Dr. Wilkoff reports having nothing to disclose. Email him at pdnews@mdedge.com.

How much did you get per tooth from the Tooth Fairy? How much do your children or grandchildren receive each time they lose a baby tooth? In my family the Tooth Fairy seems to be more than keeping with inflation. Has she ever been caught in the act of swapping cash for enamel in your home? Has she every slipped up one night but managed to resurrect her credibility the following night by doubling the reward? And, by the way, what does the Tooth Fairy do with all those teeth, and who’s funding her nocturnal switcheroos?

A recent study from the Center for Genomic Medicine at the Massachusetts General Hospital in Boston may provide an answer to at least one of those questions. It turns out some researchers have been collecting baby teeth in hopes of assessing prenatal and perinatal stress in infants.

Not surprisingly, teeth are like trees, preserving a history of the environment in their growth rings. The Boston researchers hypothesized that the thickness of one particular growth line referred to as the neonatal line (NNL) might reflect prenatal and immediate postnatal environmental stress. Using data and naturally shed teeth collected in an English longitudinal study, the authors discovered that the teeth of children whose mothers had a long history of severe depression or other psychiatric problems and children of mothers who at 32 weeks’ gestation experienced anxiety and/or depression were more likely to have thicker NNLs. On the other hand, the teeth of children whose mothers had received “significant social support” in the immediate postnatal period exhibited thinner NNLs.

Based on anecdotal observations, I think most of us already suspected that the children whose mothers had significant psychiatric illness began life with a challenge, but it is nice to know that we may now have a tool to document one small bit of evidence of the structural damage that occurred during this period of stress. Of course, the prior owners of these baby teeth won’t benefit from the findings in this study; however, the evidence that social support during the critical perinatal period can ameliorate the damage might stimulate more robust prenatal programs for mother and infants at risk in the future.

It will be interesting to see if this investigative tool becomes more widely used to determine the degree to which a variety of potential perinatal stressors are manifesting themselves in structural change in newborns. For example, collecting baby teeth from neonatal ICU graduates may answer some questions about how certain environmental conditions such as sound, vibration, bright light, and temperature may result in long-term damage to the infants. Most of us suspect that skin-to-skin contact with mother and kangaroo care are beneficial. A study that includes a survey of NNLs might go a long way toward supporting our suspicions.

I can even imagine that a deep retrospective study of NNLs in baby teeth collected over the last 100 years might demonstrate the effect of phenomena such as wars, natural disasters, forced migration, and pandemics, to name a few.

It may be time to put out a nationwide call to all Tooth Fairies both active and retired to dig deep in their top bureau drawers. Those little bits of long-forgotten enamel may hold the answers to a plethora of unanswered questions about those critical months surrounding the birth of a child.

Dr. Wilkoff practiced primary care pediatrics in Brunswick, Maine, for nearly 40 years. He has authored several books on behavioral pediatrics, including “How to Say No to Your Toddler.” Other than a Littman stethoscope he accepted as a first-year medical student in 1966, Dr. Wilkoff reports having nothing to disclose. Email him at pdnews@mdedge.com.

Infants who are given nutrient- or supplement-enriched formula milk do not later have higher academic scores as adolescents than those fed with standard formula, a study published online in the BMJ suggests.

One goal of modifying infant formula has been to make long-term cognitive outcomes similar to those for breast-fed infants, the authors noted. Rates for breastfeeding beyond 6 weeks are low in many parts of the world and more than 60% of babies worldwide under the age of 6 months are given formula to replace or supplement breast milk, the paper states.

So far, research has been inconclusive on benefits, though enhancements continue to be added and claims have been made as to their benefits on cognition in advertising. Long-term trials are difficult as researchers move on and participants are lost to follow-up.

In a new study, however, researchers led by Maximiliane L. Verfürden, MsC, with the University College of London’s Great Ormond Street Institute of Child Health, linked data from seven dormant, randomized, controlled infant formula trials to participants’ performance later as adolescents in the United Kingdom on mandatory national school math and English exams at ages 11 and 16 and found no difference in scores.

They followed 1,763 adolescents who had been participants in the formula trials, which were conducted between 1993 and 2001, and were able to link 91.2% (1,607) to academic records.

They found “no benefit of the infant formula modifications on cognitive outcomes.”
 

Three types of formula studied

In this study, the researchers discuss three widely available types of modified infant formulas that have been promoted as benefiting cognitive development: formula enriched with nutrients; formula supplemented with long-chain polyunsaturated fatty acids (LCPUFAs); and follow-on formula fortified with iron.

In one supplement group the academic results were worse than for those given standard formula. At age 11, children who had been given the LCPUFA-enhanced formula scored lower in both English and math.

“Given the potential associations between the source of LCPUFAs and adverse cognitive outcomes, long-term follow-up of trials testing infant formulas from other sources of LCPUFAs is recommended,” the authors wrote.
 

Nutrients can harm, editorialist says

Charlotte Wright, BM BCH, MSc, a pediatrician and epidemiologist with the Glasgow Royal Hospital for Children in Glasgow, who was not part of the study, coauthored an editorial that accompanied the article in the BMJ.

Dr. Wright and nutritionist Ada L. Gargia, PhD, at the University of Glasgow, wrote that nutrients in some formula enhancements can harm and that infant milk trials often have been poorly conducted.

The editorialists point to a large systematic review of formula milk trials published this year in the BMJ by Helfer et al. that found that most were funded by industry.

“Helfer and colleagues’ review found that 80% of studies were at high risk of bias, mainly because of selective reporting, with 92% of abstracts mentioning positive findings, despite only 42% of trials finding statistically significant differences in a stated primary outcome,” they wrote.

Dr. Wright, who runs a specialist feeding clinic for children, said in an interview that the study is valuable in that it has follow-up “to an age when adult cognition can be robustly assessed.”

She noted that the authors say additives that have been shown to be harmful are still routinely added.

“There is now evidence that adding LCPUFAs results in lower cognition and that giving extra iron to healthy children increases their risk of infection and may even slow their growth,” she said.

But advertisements to the contrary are quickly found in an Internet search, she said, even if no specific claims are made for them.

She gave an example of an advertisement for a commonly used enhanced formula, which reads: “Our formulation contains our highest levels of DHA (Omega 3 LCPs) and is enriched with iron to support normal cognitive development.”

The formula studies were done more than 20 years ago, but Dr. Wright said that does not downplay their relevance.

The basic formulation of the formulas hasn’t changed much, she said, and the additives are still present.

This work was supported by the Economic and Social Research Council UCL, Bloomsbury and East London Doctoral Training Partnership and a Great Ormond Street Hospital Charity Research grant. Full disclosures for all authors are available with the full text of the paper. Dr. Wright and Dr. Garcia declared no relevant financial relationships.

Infants who are given nutrient- or supplement-enriched formula milk do not later have higher academic scores as adolescents than those fed with standard formula, a study published online in the BMJ suggests.

One goal of modifying infant formula has been to make long-term cognitive outcomes similar to those for breast-fed infants, the authors noted. Rates for breastfeeding beyond 6 weeks are low in many parts of the world and more than 60% of babies worldwide under the age of 6 months are given formula to replace or supplement breast milk, the paper states.

So far, research has been inconclusive on benefits, though enhancements continue to be added and claims have been made as to their benefits on cognition in advertising. Long-term trials are difficult as researchers move on and participants are lost to follow-up.

In a new study, however, researchers led by Maximiliane L. Verfürden, MsC, with the University College of London’s Great Ormond Street Institute of Child Health, linked data from seven dormant, randomized, controlled infant formula trials to participants’ performance later as adolescents in the United Kingdom on mandatory national school math and English exams at ages 11 and 16 and found no difference in scores.

They followed 1,763 adolescents who had been participants in the formula trials, which were conducted between 1993 and 2001, and were able to link 91.2% (1,607) to academic records.

They found “no benefit of the infant formula modifications on cognitive outcomes.”
 

Three types of formula studied

In this study, the researchers discuss three widely available types of modified infant formulas that have been promoted as benefiting cognitive development: formula enriched with nutrients; formula supplemented with long-chain polyunsaturated fatty acids (LCPUFAs); and follow-on formula fortified with iron.

In one supplement group the academic results were worse than for those given standard formula. At age 11, children who had been given the LCPUFA-enhanced formula scored lower in both English and math.

“Given the potential associations between the source of LCPUFAs and adverse cognitive outcomes, long-term follow-up of trials testing infant formulas from other sources of LCPUFAs is recommended,” the authors wrote.
 

Nutrients can harm, editorialist says

Charlotte Wright, BM BCH, MSc, a pediatrician and epidemiologist with the Glasgow Royal Hospital for Children in Glasgow, who was not part of the study, coauthored an editorial that accompanied the article in the BMJ.

Dr. Wright and nutritionist Ada L. Gargia, PhD, at the University of Glasgow, wrote that nutrients in some formula enhancements can harm and that infant milk trials often have been poorly conducted.

The editorialists point to a large systematic review of formula milk trials published this year in the BMJ by Helfer et al. that found that most were funded by industry.

“Helfer and colleagues’ review found that 80% of studies were at high risk of bias, mainly because of selective reporting, with 92% of abstracts mentioning positive findings, despite only 42% of trials finding statistically significant differences in a stated primary outcome,” they wrote.

Dr. Wright, who runs a specialist feeding clinic for children, said in an interview that the study is valuable in that it has follow-up “to an age when adult cognition can be robustly assessed.”

She noted that the authors say additives that have been shown to be harmful are still routinely added.

“There is now evidence that adding LCPUFAs results in lower cognition and that giving extra iron to healthy children increases their risk of infection and may even slow their growth,” she said.

But advertisements to the contrary are quickly found in an Internet search, she said, even if no specific claims are made for them.

She gave an example of an advertisement for a commonly used enhanced formula, which reads: “Our formulation contains our highest levels of DHA (Omega 3 LCPs) and is enriched with iron to support normal cognitive development.”

The formula studies were done more than 20 years ago, but Dr. Wright said that does not downplay their relevance.

The basic formulation of the formulas hasn’t changed much, she said, and the additives are still present.

This work was supported by the Economic and Social Research Council UCL, Bloomsbury and East London Doctoral Training Partnership and a Great Ormond Street Hospital Charity Research grant. Full disclosures for all authors are available with the full text of the paper. Dr. Wright and Dr. Garcia declared no relevant financial relationships.

Infants who are given nutrient- or supplement-enriched formula milk do not later have higher academic scores as adolescents than those fed with standard formula, a study published online in the BMJ suggests.

One goal of modifying infant formula has been to make long-term cognitive outcomes similar to those for breast-fed infants, the authors noted. Rates for breastfeeding beyond 6 weeks are low in many parts of the world and more than 60% of babies worldwide under the age of 6 months are given formula to replace or supplement breast milk, the paper states.

So far, research has been inconclusive on benefits, though enhancements continue to be added and claims have been made as to their benefits on cognition in advertising. Long-term trials are difficult as researchers move on and participants are lost to follow-up.

In a new study, however, researchers led by Maximiliane L. Verfürden, MsC, with the University College of London’s Great Ormond Street Institute of Child Health, linked data from seven dormant, randomized, controlled infant formula trials to participants’ performance later as adolescents in the United Kingdom on mandatory national school math and English exams at ages 11 and 16 and found no difference in scores.

They followed 1,763 adolescents who had been participants in the formula trials, which were conducted between 1993 and 2001, and were able to link 91.2% (1,607) to academic records.

They found “no benefit of the infant formula modifications on cognitive outcomes.”
 

Three types of formula studied

In this study, the researchers discuss three widely available types of modified infant formulas that have been promoted as benefiting cognitive development: formula enriched with nutrients; formula supplemented with long-chain polyunsaturated fatty acids (LCPUFAs); and follow-on formula fortified with iron.

In one supplement group the academic results were worse than for those given standard formula. At age 11, children who had been given the LCPUFA-enhanced formula scored lower in both English and math.

“Given the potential associations between the source of LCPUFAs and adverse cognitive outcomes, long-term follow-up of trials testing infant formulas from other sources of LCPUFAs is recommended,” the authors wrote.
 

Nutrients can harm, editorialist says

Charlotte Wright, BM BCH, MSc, a pediatrician and epidemiologist with the Glasgow Royal Hospital for Children in Glasgow, who was not part of the study, coauthored an editorial that accompanied the article in the BMJ.

Dr. Wright and nutritionist Ada L. Gargia, PhD, at the University of Glasgow, wrote that nutrients in some formula enhancements can harm and that infant milk trials often have been poorly conducted.

The editorialists point to a large systematic review of formula milk trials published this year in the BMJ by Helfer et al. that found that most were funded by industry.

“Helfer and colleagues’ review found that 80% of studies were at high risk of bias, mainly because of selective reporting, with 92% of abstracts mentioning positive findings, despite only 42% of trials finding statistically significant differences in a stated primary outcome,” they wrote.

Dr. Wright, who runs a specialist feeding clinic for children, said in an interview that the study is valuable in that it has follow-up “to an age when adult cognition can be robustly assessed.”

She noted that the authors say additives that have been shown to be harmful are still routinely added.

“There is now evidence that adding LCPUFAs results in lower cognition and that giving extra iron to healthy children increases their risk of infection and may even slow their growth,” she said.

But advertisements to the contrary are quickly found in an Internet search, she said, even if no specific claims are made for them.

She gave an example of an advertisement for a commonly used enhanced formula, which reads: “Our formulation contains our highest levels of DHA (Omega 3 LCPs) and is enriched with iron to support normal cognitive development.”

The formula studies were done more than 20 years ago, but Dr. Wright said that does not downplay their relevance.

The basic formulation of the formulas hasn’t changed much, she said, and the additives are still present.

This work was supported by the Economic and Social Research Council UCL, Bloomsbury and East London Doctoral Training Partnership and a Great Ormond Street Hospital Charity Research grant. Full disclosures for all authors are available with the full text of the paper. Dr. Wright and Dr. Garcia declared no relevant financial relationships.

New evidence points to the importance of helping mothers with their mental health during pregnancy.

Researchers from the National Institutes of Health in Bethesda, Md., have found that feelings of stress or depression while pregnant are linked to changes in the placenta where the child is growing. The findings, published in Epigenomics, show these changes could alter gene activity.

Stress and depression are not uncommon among expectant women, with depression affecting an estimated 1 in 10 pregnancies, according to the American College of Obstetricians and Gynecologists.

And current evidence already suggests that depression during pregnancy can negatively affect a child later in life. For instance, one study found that depression during pregnancy was linked to behavioral and emotional disorders during childhood, and another found that it raised the risk of depression at age 18.

To investigate stress and depression during pregnancy, the NIH investigators evaluated 301 pregnant women from 12 clinics in the United States who had taken part in an earlier clinical study. The group was ethnically diverse, with 34% identifying as Hispanic, 26% as non-Hispanic White, 24% as non-Hispanic Black, and 17% as Asian or Pacific Islander.

At the start of the study, the women were asked to complete questionnaires routinely used to screen for stress and depression. They completed the questionnaire five more times during their pregnancies. Shortly after each woman gave birth, researchers took tissue samples from the placenta and analyzed the genetics.

The purpose of studying the placenta, according to lead researcher Markos Tesfaye, MD, a postdoctoral fellow at the NIH, is that chemical changes can regulate whether a nearby gene can be activated.

There is evidence that chemical modifications in the placenta can lead to changes in fetal tissues, such as the brain, he said. And the placenta is known for making neurotransmitters, which are needed for fetal brain development.

The team found 16 areas where changes to the exterior of placental DNA were linked to depression in the second or third trimester. They also found two areas where these changes were associated with stress in the third trimester.

“Maternal depression leaves signals in the placenta at genes critical for fetal brain programming,” said study author Fasil Tekola-Ayele, PhD, from the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Two of the chemical changes linked to depression were near genes that are known to be involved with fetal brain development and neurologic and psychiatric illnesses.

“The findings illustrate that the developing fetus is sensitive to the mother›s condition during pregnancy, including maternal symptoms of low mood and perceived stress,” said Thalia K. Robakis, MD, from the women’s mental health program at Icahn School of Medicine at Mount Sinai, New York, who was not involved in the study.

But Dr. Robakis cautioned that no clinical outcomes were measured among the babies born, meaning that the study could not document any effects of maternal depression and stress on fetal development. Rather, the work contributes to figuring out what mechanisms are involved.

“Pregnant women should continue to focus on optimizing their own physical and mental health,” Dr. Robakis said. “And they should know that a happy, healthy mother is the most important factor supporting the development of a happy, healthy baby.”

A version of this article first appeared on WebMD.com.

New evidence points to the importance of helping mothers with their mental health during pregnancy.

Researchers from the National Institutes of Health in Bethesda, Md., have found that feelings of stress or depression while pregnant are linked to changes in the placenta where the child is growing. The findings, published in Epigenomics, show these changes could alter gene activity.

Stress and depression are not uncommon among expectant women, with depression affecting an estimated 1 in 10 pregnancies, according to the American College of Obstetricians and Gynecologists.

And current evidence already suggests that depression during pregnancy can negatively affect a child later in life. For instance, one study found that depression during pregnancy was linked to behavioral and emotional disorders during childhood, and another found that it raised the risk of depression at age 18.

To investigate stress and depression during pregnancy, the NIH investigators evaluated 301 pregnant women from 12 clinics in the United States who had taken part in an earlier clinical study. The group was ethnically diverse, with 34% identifying as Hispanic, 26% as non-Hispanic White, 24% as non-Hispanic Black, and 17% as Asian or Pacific Islander.

At the start of the study, the women were asked to complete questionnaires routinely used to screen for stress and depression. They completed the questionnaire five more times during their pregnancies. Shortly after each woman gave birth, researchers took tissue samples from the placenta and analyzed the genetics.

The purpose of studying the placenta, according to lead researcher Markos Tesfaye, MD, a postdoctoral fellow at the NIH, is that chemical changes can regulate whether a nearby gene can be activated.

There is evidence that chemical modifications in the placenta can lead to changes in fetal tissues, such as the brain, he said. And the placenta is known for making neurotransmitters, which are needed for fetal brain development.

The team found 16 areas where changes to the exterior of placental DNA were linked to depression in the second or third trimester. They also found two areas where these changes were associated with stress in the third trimester.

“Maternal depression leaves signals in the placenta at genes critical for fetal brain programming,” said study author Fasil Tekola-Ayele, PhD, from the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Two of the chemical changes linked to depression were near genes that are known to be involved with fetal brain development and neurologic and psychiatric illnesses.

“The findings illustrate that the developing fetus is sensitive to the mother›s condition during pregnancy, including maternal symptoms of low mood and perceived stress,” said Thalia K. Robakis, MD, from the women’s mental health program at Icahn School of Medicine at Mount Sinai, New York, who was not involved in the study.

But Dr. Robakis cautioned that no clinical outcomes were measured among the babies born, meaning that the study could not document any effects of maternal depression and stress on fetal development. Rather, the work contributes to figuring out what mechanisms are involved.

“Pregnant women should continue to focus on optimizing their own physical and mental health,” Dr. Robakis said. “And they should know that a happy, healthy mother is the most important factor supporting the development of a happy, healthy baby.”

A version of this article first appeared on WebMD.com.

New evidence points to the importance of helping mothers with their mental health during pregnancy.

Researchers from the National Institutes of Health in Bethesda, Md., have found that feelings of stress or depression while pregnant are linked to changes in the placenta where the child is growing. The findings, published in Epigenomics, show these changes could alter gene activity.

Stress and depression are not uncommon among expectant women, with depression affecting an estimated 1 in 10 pregnancies, according to the American College of Obstetricians and Gynecologists.

And current evidence already suggests that depression during pregnancy can negatively affect a child later in life. For instance, one study found that depression during pregnancy was linked to behavioral and emotional disorders during childhood, and another found that it raised the risk of depression at age 18.

To investigate stress and depression during pregnancy, the NIH investigators evaluated 301 pregnant women from 12 clinics in the United States who had taken part in an earlier clinical study. The group was ethnically diverse, with 34% identifying as Hispanic, 26% as non-Hispanic White, 24% as non-Hispanic Black, and 17% as Asian or Pacific Islander.

At the start of the study, the women were asked to complete questionnaires routinely used to screen for stress and depression. They completed the questionnaire five more times during their pregnancies. Shortly after each woman gave birth, researchers took tissue samples from the placenta and analyzed the genetics.

The purpose of studying the placenta, according to lead researcher Markos Tesfaye, MD, a postdoctoral fellow at the NIH, is that chemical changes can regulate whether a nearby gene can be activated.

There is evidence that chemical modifications in the placenta can lead to changes in fetal tissues, such as the brain, he said. And the placenta is known for making neurotransmitters, which are needed for fetal brain development.

The team found 16 areas where changes to the exterior of placental DNA were linked to depression in the second or third trimester. They also found two areas where these changes were associated with stress in the third trimester.

“Maternal depression leaves signals in the placenta at genes critical for fetal brain programming,” said study author Fasil Tekola-Ayele, PhD, from the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Two of the chemical changes linked to depression were near genes that are known to be involved with fetal brain development and neurologic and psychiatric illnesses.

“The findings illustrate that the developing fetus is sensitive to the mother›s condition during pregnancy, including maternal symptoms of low mood and perceived stress,” said Thalia K. Robakis, MD, from the women’s mental health program at Icahn School of Medicine at Mount Sinai, New York, who was not involved in the study.

But Dr. Robakis cautioned that no clinical outcomes were measured among the babies born, meaning that the study could not document any effects of maternal depression and stress on fetal development. Rather, the work contributes to figuring out what mechanisms are involved.

“Pregnant women should continue to focus on optimizing their own physical and mental health,” Dr. Robakis said. “And they should know that a happy, healthy mother is the most important factor supporting the development of a happy, healthy baby.”

A version of this article first appeared on WebMD.com.