Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort.

Katinka WellerDineke WestraNina C J PetersMartina WilkeDiane Van OpstalIlse FeenstraJoris van DrongelenAlex J EgginkKarin E M Diderich Philip L J DeKoninck

Published in: Prenatal diagnosis (2024)

In 12% of fetuses and neonates with CDH and normal CNV analysis results, pathogenic or likely pathogenic variants were identified with ES. These data indicate that there is a substantial diagnostic yield when offering ES in prenatally detected CDH, both in complex and isolated cases.

Keyphrases

copy number
gestational age
electronic health record
single cell
big data
low birth weight
machine learning
artificial intelligence
preterm birth
deep learning