Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.

F FuR LiY LiZ-Q NieT LeiD WangX YangJ HanMin PanL ZhenY OuJ LiF-T LiX JingD LiCan Liao

Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2018)

WES is a promising method for the identification of genetic variants that cause structural abnormalities in fetuses with normal results on karyotyping and CMA. This enhanced diagnostic yield has the potential to improve the clinical management of pregnancies and to inform better the reproductive decisions of affected families. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Keyphrases

gestational age
preterm birth
systematic review
human health
risk assessment
pregnant women
pregnancy outcomes
bioinformatics analysis