Noninvasive prenatal testing of alpha-thalassemia and beta-thalassemia through population-based parental haplotyping

Noninvasive prenatal testing (NIPT) of recessive monogenic diseases heavily depends on the correct parental haplotypes. However, family-based genetic haplotyping (FBH) requires pedigrees, and molecular haplotyping remains a major challenge due to its high cost, long processing time, and complex procedure. Here, we propose a new approach termed population-based haplotyping NIPT (PBH-NIPT) using thalassemia as a prototype.