Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

• Main Authors: Yayun Qin (Author), Yanyi Yao (Author), Nian Liu (Author), Bo Wang (Author), Lijun Liu (Author), Hui Li (Author), Tangxinzi Gao (Author), Runhong Xu (Author), Xiaoyan Wang (Author), Fanglian Zhang (Author), Jieping Song (Author)
• Format: Book
• Published: BMC, 2023-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses. Methods We recruited 144...