Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

• Main Authors: Pengzhen Jin (Author), Jiawei Hong (Author), Yuqing Xu (Author), Yeqing Qian (Author), Shuning Han (Author), Minyue Dong (Author)
• Format: Knjiga
• Izdano: BMC, 2024-09-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fetal exome sequencing in a cohort of 512 trios to ev...