Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting

ConclusionsTo our knowledge, this is the largest cohort study to investigate the incidence of SNVs using ES in foetal CHD. CNV-seq and ES identified genetic abnormalities in nearly 1/3 of foetal CHD cases. Thus, CNV-seq and ES can provide clinically relevant information for pregnancy management.

Source: ESC Heart Failure - December 8, 2022 Category: Cardiology Authors: Tong Yi, Xiaoyan Hao, Hairui Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Lin Sun, Xiaowei Liu, Ying Zhao, Yong Guo, Xiaoxue Zhou, Yihua He Tags: Original Article Source Type: research