Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations.

Jia-Wei ShiHaiyan CaoLiu HongJing MaLi CuiYi ZhangXiaoyan SongJuanjuan LiuYali YangQing LvLi ZhangWenqian Wu Ming-Xing Xie

Published in: Prenatal diagnosis (2022)

We have developed and defined a CHD gene panel that can be utilized in a subset of fetuses with CTDs. We demonstrate the utility of incorporating both prenatal and postnatal phenotypic information may facilitate WES diagnostics.

Keyphrases

gestational age
copy number
pregnant women
preterm infants
electronic health record
genome wide
big data
preterm birth
health information
genome wide identification
healthcare
data analysis