Article
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Genome medicine - 4 Dec 2025
Zhang Lanlan, Hua Renyi, Wu Yiming, Han Xu, Wu Yi, Fei Hongjun, Zhao Xinrong, Chang Chunxin, Gao Li, Chen Yiyao, Xu Hui, Li Niu, Yang Jingmin, Wang Yanlin, Wang Jian, Li Shuyuan
Abstract excerpt
BACKGROUND: Noninvasive prenatal screening for aneuploidies and microdeletion/microduplication syndromes (MMS) has gained widespread clinical application. However, the development of noninvasive prenatal diagnosis for monogenic disorders (NIPT-M) has progressed slower. Existing NIPT-M approaches often require specialized designs, are limited to a narrow range of genes, or are expensive and impractical for...
Topics
Join the communities discussing this publication.