Amanda wanted to warn someone. In June 2021, her daughter – the one she and her husband had tried for 3 years to conceive – had died after only 28 hours. With an underdeveloped nose, she had battled for every breath.
Nobody knew why. Later, an autopsy report revealed their daughter had an extra 13th chromosome. The condition is nearly always fatal.
“But didn’t we test for that?” Amanda recalled asking herself. “That was kind of where the light bulb clicked.”
Through her doctor, Amanda had gotten a popular prenatal screening from a lab company. It had come back “negative.”
For three major conditions, including the one her baby had, the report gave the impression of near certainty. The likelihood that she would be born without them was “greater than 99%.”
As she recovered from a cesarean section, Amanda found herself facing a long maternity leave without a child. She shut the door to the empty nursery and began spending what seemed like endless hours of that hazy summer learning about the test.
It’s a simple blood draw designed to check for an array of genetic anomalies. But Amanda, a science researcher, read academic articles showing there was a higher risk of inaccurate results than she had realized. (She asked to be identified by only her first name to protect her privacy.)
On Reddit, she found other women reporting problems with the tests, too. She thought Labcorp, the company that made her test, would want to know about the screening that failed her. Maybe by alerting them, she could help other families. Maybe it would help her understand what happened.
“I was trying to gain answers,” said Amanda, now 32. She tried calling Labcorp’s customer service line, but she said she was passed along from one person to another. “It was just a circle,” she remembered.
She phoned Labcorp a second time. The call ended when an employee hung up on her.
Amanda was baffled. Why didn’t the company seem interested in her experience? Why, she wondered, wouldn’t it want to collect this data? Why wasn’t there someone who could answer her questions about how often this happens, and why?
If she had taken any number of other common commercial tests – including certain tests for COVID-19 or, say, pregnancy – the company would have been required to inform the U.S. Food and Drug Administration about reports of so-called adverse events.
But the test Amanda had falls into a regulatory void. No federal agency checks to make sure these prenatal screenings work the way they claim before they’re sold to health care providers. The FDA doesn’t ensure that marketing claims are backed up by evidence before screenings reach patients. And companies aren’t required to publicly report instances of when the tests get it wrong – sometimes catastrophically.
The broader lab testing industry and its lobbyists have successfully fought for years to keep it this way, cowing regulators into staying on the sidelines.
Worried about a growing variety of tests escaping scrutiny, the FDA was on the cusp of stepping in 6 years ago. But then it backed down.
Peter Lurie, then a top agency official, was at the meetings where the FDA tabled its plans. Not pushing harder, he told ProPublica, “remains one of my greatest regrets.”
The risk of false positives from prenatal screenings, in particular, has been known for years.
In 2014, the New England Center for Investigative Reporting detailed how some companies gave a misleading impression of the precision of the prenatal screenings. Women often didn’t understand they needed diagnostic testing to confirm the results. Some had gotten abortions based on false positive results, the story said. Earlier this year, the New York Times reported how companies sell optional extra screenings that are “usually wrong” when they predict a disorder.
Despite these stories and calls for reform by patient advocates, the government has done little to improve oversight of prenatal screenings. ProPublica set out to examine the forces that led to this inertia and left patients like Amanda feeling misled. Interviews with more than three dozen women revealed ongoing confusion about the screenings – and anger when their reliability proved to be overblown.
“This is a Wild West scenario where everybody is on their own,” said Lawrence Gostin, a Georgetown University, Washington, law professor specializing in bioethics.
The stakes for families are increasing. Upward of half of all pregnant people now receive one of these prenatal screenings. And with many states banning abortions or limiting them to early in pregnancies, the need for fast, accurate information has become more urgent.
The FDA itself acknowledges the problem. In correspondence with ProPublica, a spokesperson cited an “outdated policy” regarding the lack of vetting of many lab tests that the agency has “spent the better part of the last 2 decades trying to address.”
The screening industry, meanwhile, continues to expand, proving lucrative for those who lead it. The chief executive of Natera, which claims about 40% of the market share of prenatal screenings, received a $23 million compensation package last year, the highest of any executive at a publicly traded lab company.
Testing companies told ProPublica that, even without the FDA, there is significant oversight. Labs must abide by state regulations, and another federal agency, the Centers for Medicare and Medicaid Services, is charged with monitoring quality standards. It does not, however, check whether the tests the labs perform are clinically valid.
Companies also said the screenings offer important guidance to expectant families. Echoing others in the field, Labcorp said in a statement that the screenings, when used properly, “provide vital information about the presence of increased risk, but do not provide a definitive diagnosis.” (It declined to discuss the specifics of Amanda’s experience.)
Natera pointed out that its materials tell patients that “this test does not make a final diagnosis.” It reports results as “high-risk” or “low-risk,” not positive or negative.
Companies have stressed that, ultimately, it’s the responsibility of health care providers, who order the tests, to inform patients about the limits of screenings.
For all that, the statistical nuances of the test aren’t easy to parse for patients and even some doctors and nurses. For example, the test for trisomy 13, which doomed Amanda’s baby, is actually less likely to correctly predict the condition than other tests in the standard bundle of screenings offered to every patient.
When ProPublica asked readers to share their experiences with noninvasive prenatal screening tests, often referred to as NIPTs or NIPS, more than a thousand responded. Many said the tests had given them peace of mind. Some said they had provided an early warning about problems.
But others had more questions than answers. None more so than Amanda.
“What are these tests?” she wondered. “And how did mine end up in the margin of error?”