https://www.selleckchem.com/pr....oducts/tlr2-in-c29.h
Previous studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies with diagnostic yields ranging from 6% to 81%, but there are few reports of its clinical utility. We conducted a retrospective chart review of patients who had pES to determine whether results led to clinical management changes. Of 20 patients, 8 (40%) received a definitive diagnosis. Seven patients (35%) had medical management changes based on the pES results, including alterations to their delivery
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