Noninvasive prenatal prediction of fetal haplotype with Spearman rank correlation analysis model.

ABSTRACT: Noninvasive prenatal testing (NIPT) has been widely used clinically to detect fetal chromosomal aneuploidy with high accuracy rates, gradually replacing traditional serological screening. However, the application of NIPT for monogenic diseases is still in an immature stage of exploration. The detection of mutations in peripheral blood of pregnant women requires precise qualitative and quantitative techniques, which limits its application. The bioinformatic strategies based on the SNP (single nucleotide polymorphism) linkage analysis are more practical, which can be divided into two types depending on whether proband information is needed. Hidden Markov Mode (HMM) and Sequential probability ratio test (SPRT) are suitable for families with probands. In contrast, methods based on databases an

SUBMITTER: Hanxiao D 

PROVIDER: S-EPMC9356545 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature