The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.

ABSTRACT:

Introduction

The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results.

Material and methods

In the period 2013-2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for additional genetic counseling and opted for additional molecular testing pre- and/or postnatally. Most of the couples received only a targeted molecular test and in 159 cases (40.7%) whole exome sequencing (broad gene panels or open exome) was performed. The results of these molecular tests were evaluated retrospectively, regardless of the time of the genetic diagnosis

SUBMITTER: Diderich KEM 

PROVIDER: S-EPMC8247008 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature