Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing (CNV‐seq) or chromosomal microarray analysis (CMA), and trio‐exome sequencing (trio‐ES), and received long‐term follow‐ups from 6 months to 7 years. The top five GU anomalies were hydronephrosis, renal agenesis, multicystic dysplastic kidney, genital cysts, and genital abnormalities. 4.77% (19/398) of chromosomal abnormalities were detected by karyotyping, and 39 CNVs were revealed in 354 cases by CNV‐seq/CMA simultaneously, with 6.50% (23/354) of additional CNVs. Genetic abnormalities were more frequent in reproductive system anomalies, nonisolated, and multiple GU anomalies. Two of eight with pathogenic/likely pathogenic genes were additionally detected. Five hundred thirty‐four pregnancy outcomes were obtained, including 418 (76.70%) live births with favorable outcomes, two (0.37%) intrauterine fetal deaths, and 114 (20.92%) terminations mainly due to genetic abnormalities or nonisolated anomalies. The fetuses with reproductive system anomalies, nonisolated, and multiple GU anomalies were associated with genetic abnormalities. Therefore, a closed‐loop management strategy including “diagnosis–assessment–intervention–follow‐up” should be provided for fetuses with GU anomalies from pregnancy to postpartum period.