Genetic analysis of 55 cases with fetal skeletal dysplasia

Ying Bai, Yue Sun, Ning Liu, Li Wang, Zhihui Jiao, Yaqin Hou, Huikun Duan, Qianqian Li, Xiaofan Zhu, Jingjing Meng & Xiangdong Kong
Abstract Background Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatally using ultrasound (US). However, the diagnostic accuracy of the US is limited. Methods We recruited 55 unrelated fetuses with US-detected skeletal anomalies and performed sequential tests using copy number variation sequencing, targeted skeletal gene panel sequencing, or whole exome sequencing. The detected variants were...
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