Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta-analysis.

Montse Pauta Raigam Jafet Martínez-Portilla Antoni Borrell

Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2022)

ES applied in fetuses with multisystem structural anomalies was able to identify a potentially causative gene when CMA or karyotyping had failed to do so in an additional one-third of cases. No differences were observed between the solo and trio approaches for ES. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Keyphrases

gestational age
copy number
magnetic resonance imaging
genome wide
preterm birth
ultrasound guided
dna methylation
gene expression
contrast enhanced ultrasound
genome wide analysis