Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

ABSTRACT:

Objective

Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We describe our novel strategy of exome sequencing parental DNA samples to diagnose recessive monogenic disorders in an audit of the first 50 couples referred.

Method

Exome sequencing was carried out in a consecutive series of 50 couples who had 1 or more pregnancies affected with a lethal or prenatal-onset disorder. In all cases, there was insufficient DNA for exome sequencing of the affected fetus. Heterozygous rare variants (MAF < 0.001) in the same gene in both parents were selected for analysis. Likely, disease-causing variants were

SUBMITTER: Stals KL 

PROVIDER: S-EPMC5836855 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature