Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Abstract

This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation was identified in 8.5% of fetuses, and more commonly in those fetuses with multisystem anomalies (15.4%), skeletal anomalies (15.4%), or cardiac anomalies (11.1%). The lowest yield, only 3.2%, was in fetuses with isolated increased nuchal translucency in the first trimester.