Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders

• Published in: Human genomics Vol. 16; no. 1; pp. 1 - 15
• Main Authors: Wu, Wenman, Zhou, Xuanyou, Jiang, Zhengwen, Zhang, Dazhi, Yu, Feng, Zhang, Lanlan, Wang, Xuefeng, Chen, Songchang, Xu, Chenming
• Format: Journal Article
• Language: English
• Published: London BioMed Central 27.07.2022; BMC
• Subjects: Algorithms; Amniotic fluid; Cell-free DNA; Chi-square test; Clinical medicine; Duchenne's muscular dystrophy; Familial exudative vitreoretinopathy; Families & family life; Fetal genotyping; Fetuses; Genotype & phenotype; Genotyping; Haplotypes; Hemophilia; Immunoglobulin M; Keratosis; Linkage analysis; Massively parallel sequencing; Monogenic disorder; Mutation; Plasma; Prenatal diagnosis; Single-nucleotide polymorphism

Background High-cost, time-consuming and complex processes of several current approaches limit the use of noninvasive prenatal diagnosis (NIPD) for monogenic disorders in clinical application. Thus, a more cost-effective and easily implementable approach is required. Methods We established a low-cos...