Trio exome sequencing is highly relevant in prenatal diagnostics.

ABSTRACT:

Objective

About 3% of newborns show malformations, with about 20% of the affected having genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly improved with high-throughput sequencing, in particular through whole exome sequencing covering all protein-coding regions. Here, we aim to extend the use of this technology to prenatal diagnostics.

Method

Between 07/2018 and 10/2020, 500 pregnancies with fetal ultrasound abnormalities were analyzed after genetic counseling as part of prenatal diagnostics using WES of the fetus and parents.

Results

Molecular genetic findings could explain ultrasound abnormalities in 38% of affected fetuses. In 47% of these, disease-causing de novo variants were found. Pathogenic variants in genes with auto

SUBMITTER: Gabriel H 

PROVIDER: S-EPMC9305182 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature