The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.

Karin E M DiderichKathleen RomijnMarieke JoostenLutgarde C P GovaertsMarike G PolakHennie T BruggenwirthMartina WilkeMarjon A van SlegtenhorstYolande van BeverAlice S BrooksGrazia M S ManciniIngrid M B H van de LaarJoan N R KromosoetoMaarten F C M KnapenAttie T J I GoDiane Van OpstalLies H HoefslootRobert-Jan H GaljaardMalgorzata Ilona Srebniak

Published in: Acta obstetricia et gynecologica Scandinavica (2020)

Our retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype.

Keyphrases

magnetic resonance imaging
gestational age
copy number
pregnant women
contrast enhanced ultrasound
ultrasound guided
gene expression
dna methylation
risk assessment