Jinglan Zhang, Yanting Wu, Songchang Chen, Qiong Luo, Hui Xi, Jianli Li, Xiaomei Qin, Ying Peng, Na Ma, Bingxin Yang, Xiang Qiu, Weiliang Lu, Yuan Chen, Ying Jiang, Panpan Chen, Yifeng Liu, Chen Zhang, Zhiwei Zhang, Yu Xiong, Jie Shen, Huan Liang, Yunyun Ren, Chunmei Ying, Minyue Dong, Xiaotian Li, Congjian Xu, Hua Wang, Dan Zhang, Chenming Xu, Hefeng Huang
Prenatal cell-free DNA (cfDNA) screening uses extracellular fetal DNA circulating in the peripheral blood of pregnant women to detect prevalent fetal chromosomal anomalies. However, numerous severe conditions with underlying single-gene defects are not included in current prenatal cfDNA screening. In this prospective, multicenter and observational study, pregnant women at elevated risk for fetal genetic conditions were enrolled for a cfDNA screening test based on coordinative allele-aware target enrichment sequencing...
February 2024: Nature Medicine