Lessons learnt from prenatal exome sequencing.

ABSTRACT:

Background

Prenatal exome sequencing (ES) for monogenic disorders in fetuses with structural anomalies increases diagnostic yield. In England there is a national trio ES service delivered from two laboratories. To minimise incidental findings and reduce the number of variants investigated, analysis uses a panel of 1205 genes where pathogenic variants may cause abnormalities presenting prenatally. Here we review our laboratory's early experience developing and delivering ES to identify challenges in interpretation and reporting and inform service development.

Methods

A retrospective laboratory records review from 01.04.2020 to 31.05.2021.

Results

Twenty-four of 116 completed cases were identified as challenging including 13 resulting in difficulties in analysis and rep

SUBMITTER: Chandler NJ 

PROVIDER: S-EPMC9325487 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature