Key clinical point: Performing prenatal exome sequencing (ES) not solely for the indication of fetal malformations but also for specific prenatal findings, such as fetal growth restriction and polyhydramnios, could avoid missing the diagnosis of postnatal neurocognitive disorders.
Main finding: Sonographic fetal structural findings of 52.5% of patients with postnatally diagnosed neurocognitive disorders did not hint at considering prenatal ES. Fetal structural abnormalities and other sonographic anomalies (fetal growth restriction, polyhydramnios, etc.) were shown by 23.75% of patients.
Study details: Findings are from a retrospective study that analyzed the prenatal sonographic data of 122 patients with postnatally diagnosed neurocognitive disorder using ES.
Disclosures: The authors received no financial support for conducting the study. AR Shuldiner disclosed being a full-time employee of and receiving salary and stock options from Regeneron Pharmaceuticals. C Gonzaga-Jauregui was a full-time employee of Regeneron Pharmaceuticals at the time of the study.
Source: Sukenik-Halevy R et al. Prenat Diagn. 2022 (Jan 14). Doi: 10.1002/pd.6095.