A novel NOTCH1 missense variant in two fetuses with a non-syndromic conotruncal heart defect from a single family.

Jie Zhou,Xiaohui Dai,Hanmin Liu,Shu Zhou, Ting Wu,Nan Guo,Jiao Chen

Prenatal Diagnosis（2023）

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Abstract

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.

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