Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

• Main Authors: Gordon K C Leung (Author), Christopher C Y Mak (Author), Jasmine L F Fung (Author), Wilfred H S Wong (Author), Mandy H Y Tsang (Author), Mullin H C Yu (Author), Steven L C Pei (Author), K S Yeung (Author), Gary T K Mok (Author), C P Lee (Author), Amelia P W Hui (Author), Mary H Y Tang (Author), Kelvin Y K Chan (Author), Anthony P Y Liu (Author), Wanling Yang (Author), P C Sham (Author), Anita S Y Kan (Author), Brian H Y Chung (Author)
• Format: Book
• Published: BMC, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in fetuses with structural congenital anomalies (SCA...