Novel Haplotype-Based Noninvasive Prenatal Diagnosis for Recessive Single-Gene Disorders: A Proof-of-Concept Study.

Abstract excerpt

Accurate parental haplotype information is crucial for noninvasive prenatal diagnosis (NIPD) of recessive single-gene disorders (SGD) (NIPD-SGD). However, conventional approaches rely on complex experimental techniques or trio-based SNP linkage analysis requiring family members, which limit clinical application. Here, we present a novel direct haplotyping based NIPD approach termed DiHNIPD, utilizing single-tube...

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