Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

ABSTRACT:

Purpose

Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test in routine clinical care.

Methods

We performed exome sequencing (ES) for 100 consanguineous couples. For each couple, rare variants that could give rise to biallelic variants in offspring were selected. These variants were subsequently filtered against a gene panel consisting of ~2,000 genes associated with known AR disorders (OMIM-based). Remaining variants were classified according to American College of Medical Genetics and Gen

SUBMITTER: Sallevelt SCEH 

PROVIDER: S-EPMC8187149 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature