Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results.

Qiu-Xia YuYan-Lin LiYong-Ling ZhangXiao-Mei LinLi ZhenDong-Zhi Li

Published in: Prenatal diagnosis (2022)

Sonographic diagnosis of clubfoot, even isolated, increases the risk for monogenic syndromes. Exome sequencing should be an option for genetic investigation for such pregnancies.

Keyphrases

copy number
single cell
pregnant women
genome wide
gene expression
optical coherence tomography
gestational age
breast cancer risk