Lingrong Kong, Shaojun Li, Zhenhua Zhao, Jun Feng, Xinyu Fu, Huanyun Li, Jingqi Zhu, Yanan Wang, Weiqin Tang, Chao Yuan, Feifei Li, Xiujuan Han, Di Wu, Xiangdong Kong, Luming Sun
Haplotype-based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive single-gene disorders in proband families. However, a comprehensive exploration of critical factors influencing the assay performance, such as fetal fraction, informative single nucleotide polymorphism (SNP) count, and recombination events, has yet to be performed. It is critical to identify key factors affecting NIPD performance, including its accuracy and success rate, and their impact on clinical diagnostics to guide clinical practice...
October 11, 2023: Clinical Genetics