EP474: Prenatal exome sequencing analysis in the clinical setting of fetuses with structural anomalies or increased nuchal translucency

Abstract

Although prenatal screening and diagnosis are generally mostly focused on the detection of aneuploidies and subchromosomal abnormalities, testing for monogenic disorders has become an important prenatal diagnostic test for pregnancies complicated by congenital anomalies. Multiple studies using gene panels and exome sequencing of fetal samples have revealed that pathogenic variants in single genes are an important cause of congenital anomalies. In this study, we reviewed the indications and results of prenatal trio-exome sequencing performed in a clinical diagnostic laboratory.