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 WuMing-Xing XiePublished 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.