Ruibin Huang, Fang Fu, Fei Guo, Hang Zhou, Qiuxia Yu, Shujuan Yan, Liyuan Liu, Jianqin Lu, Chunling Ma, You Wang, Huanyi Chen, Dan Wang, Yongling Zhang, Xiangyi Jing, Fucheng Li, Jin Han, Dongzhi Li, Ru Li, Can Liao
BACKGROUND: Polycystic renal disease is a frequent congenital anomaly of the kidneys, but research using chromosomal microarray analysis and exome sequencing in fetuses with polycystic renal disease remains sparse, with most studies focusing on the multisystem or genitourinary system. OBJECTIVE: This study aimed to assess the detection rate of detectable genetic causes of fetal polycystic renal disease at different levels, novel disease-causing variants, and genotype-phenotype correlations...
January 2024: American journal of obstetrics & gynecology MFM