Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping.

ABSTRACT:

Background

Noninvasive prenatal testing (NIPT) of recessive monogenic diseases depends heavily on knowing the correct parental haplotypes. However, the currently used family-based haplotyping method requires pedigrees, and molecular haplotyping is highly challenging due to its high cost, long turnaround time, and complexity. Here, we proposed a new two-step approach, population-based haplotyping-NIPT (PBH-NIPT), using α-thalassemia and β-thalassemia as prototypes.

Methods

First, we deduced parental haplotypes with Beagle 4.0 with training on a large retrospective carrier screening dataset (4356 thalassemia carrier screening-positive cases). Second, we inferred fetal haplotypes using a parental haplotype-assisted hidden Markov model (HMM) and the Viterbi algorithm.

Results

SUBMITTER: Chen C 

PROVIDER: S-EPMC7866698 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature