A novel NOTCH1 missense variant in two fetuses with a non-syndromic conotruncal heart defect from a single family.
Jie ZhouXiaohui DaiHanmin LiuShu ZhouTing WuNan GuoJiao ChenPublished in: Prenatal diagnosis (2023)
This is the first description of fetal non-syndromic CTD caused by a variant in NOTCH1. This report not only expands the gene variant spectrum of CTDs, but also emphasizes the importance of NOTCH1 testing when a fetal of CTD is detected.