Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester.

ABSTRACT:

Background

Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and the application in twin pregnancies is blank. Here we provide a novel algorithmic approach to assess singleton and twin pregnancies in the first trimester.

Methods

A 324.614 kb capture panel was designed to selectively enrich target regions. Parental haplotypes were constructed by target sequencing of blood samples from the parents and the proband. Then single nucleotide polymorphisms (SNP) within target regions were classified into four and six categories in singleton and twin pregnancy, respectively. Combining relative haplotype dosage change (RHDO) and the Bayes factor (B

SUBMITTER: Li H 

PROVIDER: S-EPMC11773923 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature