Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes

Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes

Tolusso LK; Hazelton P; Wong B; Swarr DT

Genetics in Medicine

2021

Congenital anomalies; genetic condition; prenatal; Clinical management; exome sequencing

Purpose: 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. Method(s): We conducted a retrospective chart review of patients who had pES to determine whether results led to clinical management changes. Result(s): 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 plan and neonatal management (such as use of targeted medications, subspecialty referrals, additional imaging and/or procedures). All patients who received a definitive diagnosis and one who received a likely pathogenic variant (n = 9; 45%) received specific counseling about recurrence risk and the medical/developmental prognosis for the baby. In five (25%) cases, the result facilitated a diagnosis in parents and/or siblings. Conclusion(s): pES results can have significant impacts on clinical management, some of which would not be possible if testing is deferred until after birth. To maximize the clinical utility, pES should be prioritized in cases where multiple care options are available and the imaging findings alone are not sufficient to guide parental decision-making, or where postnatal testing will not be feasible. Copyright © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

July 2021 List