Diagnostic yield of exome sequencing in fetuses with an isolated increased nuchal translucency: 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 (2021)

There is a 4% ES/GS diagnostic yield in fetuses with increased NT above the 99th percentile without concomitant anomalies. It is unclear whether a cut-off than higher 3.5mm would be more useful in case selection for ES/GS. This article is protected by copyright. All rights reserved.

Keyphrases

gestational age
single cell
gene expression
dna methylation