The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.

K ReillyS SonnerN McCayD L RolnikF CaseyA N SealeC J WatsonA KanT H T LaiB H Y ChungKarin E M Diderich Malgorzata Ilona SrebniakE DempseyS DruryJ GiordanoRonald J WapnerM D KilbyLyn S Chitty Fionnuala Mone

Published in: Prenatal diagnosis (2024)

The likelihood of a monogenic aetiology in fetuses with multi-system CHAs is high. Clinicians must consider the clinical utility of offering PES in selected isolated cardiac lesions.

Keyphrases

copy number
pregnant women
single cell
left ventricular
palliative care
gestational age
dna methylation
heart failure
genome wide
atrial fibrillation
bioinformatics analysis
preterm birth