Shujuan Yan, Fang Fu, Ru Li, Qiuxia Yu, Fucheng Li, Hang Zhou, You Wang, Ruibin Huang, Chunling Ma, Fei Guo, Dan Wang, Xin Yang, Jin Han, Tingyin Lei, Dongzhi Li, Can Liao
Objective: This retrospective study aims to evaluate the utility of exome sequencing (ES) in identifying genetic causes of congenital orofacial clefts (OFCs) in fetuses with or without other structural abnormalities, and to further explore congenital OFCs genetic causes. Methods: The study enrolled 107 singleton pregnancies diagnosed with fetal OFCs between January 2016 and May 2022, and categorized them into two groups: isolated cleft lip and/or palate (CL/CP) and syndromic CL/CP. Cases with positive karyotyping and chromosomal microarray analysis results were excluded...
2023: Frontiers in Genetics