Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
作者： Daniel T Swarr , Daniel T Swarr , Leandra K Tolusso , Beatrix Wong , Paige Hazelton
DOI: 10.1038/S41436-020-01067-9
关键词: MEDLINE 、 Exome sequencing 、 Subspecialty 、 Likely pathogenic 、 Pediatrics 、 Recurrence risk 、 Chart review 、 Medicine
摘要: Purpose Previous studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies diagnostic yields ranging from 6% to 81%, but there are few reports of its clinical utility. Methods We conducted a retrospective chart review patients who had pES determine whether results led management changes. Results Of 20 patients, 8 (40%) received definitive diagnosis. Seven (35%) medical changes based on the results, including alterations their delivery plan and neonatal (such as use targeted medications, subspecialty referrals, additional imaging and/or procedures). All diagnosis one likely pathogenic variant (n = 9; 45%) specific counseling about recurrence risk medical/developmental prognosis for baby. In five (25%) cases, result facilitated parents siblings. Conclusion significant impacts management, some which would not be possible if testing is deferred until after birth. To maximize utility, should prioritized cases where multiple care options available findings alone sufficient guide parental decision-making, or postnatal will feasible.
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