Trio exome sequencing as the stand-alone first-tier testing for prenatal diagnosis
Haibo Li, Lulu Yan, Yuxin Zhang, Min Li, Jiangyang Xue, Liyun Tian, Juan Cao, Shanshan Wu, Yanling Dong, Yuying Zhu, Hongmei Zhou, Shuangshuang Shen, Xiayuan Xu, Guosong Shen, Xueping Shen, , Changshui Chen
This study shows that trio exome sequencing is effective as a standalone first-tier test for prenatal diagnosis, offering higher diagnostic yield and clinical impact compared to traditional methods.
medRxiv · Jul 23, 2025 · PreprintGenetic & Genomic Medicine