Genome sequencing combining prenatal ultrasound in the evaluation of fetal CNS structural anomalies
Ying Yang, Sheng Zhao, Guoqiang Sun, Fang Chen, Tongda Zhang, Jieping Song, Wenzhong Yang, Lin Wang, Nianji Zhan, Xiaohong Helena Yang, Xia Zhu, Bin Rao, Zhenzhen Yin, Jing Zhou, Haisheng Yan, , Xinlin Chen
This study evaluates genome sequencing for diagnosing fetal CNS structural anomalies, finding a 38.9% overall diagnostic yield and higher rates in specific malformations.
medRxiv · Mar 4, 2020 · PreprintGenetic & Genomic Medicine