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

ABSTRACT:

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.

Methods

We conducted a retrospective chart review of patients who had pES to determine whether results led to clinical management changes.

Results

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 pathog

SUBMITTER: Tolusso LK 

PROVIDER: S-EPMC7804210 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature