Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses

Fang Fu, Ru Li, Qiuxia Yu, Dan Wang, Qiong Deng, Lushan Li, Tingying Lei, Guilan Chen, Zhiqiang Nie, Xin Yang, Jin Han, Min Pan, Li Zhen, Yongling Zhang, Xiangyi Jing, Fucheng Li, Fatao Li, Lina Zhang, Cuixing Yi, Yingsi Li, Yan Lu, Hang Zhou, Ken Cheng, Jian Li, Lina Xiang … & Can Liao
Abstract Background Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our experience implementing prenatal ES (pES) in a large cohort of fetuses with anomalies detected by ultrasonography using a hospital-based in-house multidisciplinary team (MDT) facilitated by a three-step genotype-driven followed by phenotype-driven analysis framework. Methods We performed pES in 1618 fetal cases with positive...
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