Article
Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort.
Scientific reports - 14 Apr 2026
Liu Jianzhen, Lin Keng, Mai Zhuowen, Zhang Yongshan, Li Xichong, Meng Xiangrong, Chen Hongzhen
Abstract excerpt
This study aims to systematically evaluate the diagnostic yields of karyotyping, chromosomal microarray analysis (CMA), and whole-exome sequencing (WES) in an unselected cohort of fetuses with fetal growth restriction (FGR). A total of 129 FGR fetuses were included, of which 64 underwent all three genetic tests, enabling a head-to-head comparison. Among these 64 cases, WES detected genetic variants in 25.0%...
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