Whole-genome paternal uniparental disomy identified through prenatal single-nucleotide polymorphism-based cell-free DNA screening.

ABSTRACT:

Objective

Prenatal single-nucleotide polymorphism (SNP)-based cell-free DNA (cfDNA) screening can identify genome-wide paternal uniparental disomy (GW-UPDpat), including cases with complete hydatidiform mole with a coexisting fetus (CHMCF), those with placental mesenchymal dysplasia (PMD) and those with a mosaic/chimeric GW-UPDpat syndrome. Our objective was to review laboratory data and pregnancy outcome for SNP-based cfDNA screening tests with results compatible with GW-UPDpat and a normal cell line.

Methods

This was a retrospective study of all cfDNA screening results from a single commercial laboratory between June 2014 and November 2023 that were reported as twins or triploidy, with apparent GW-UPDpat. Two-dimensional representations of the relative ratios of SNP allele

SUBMITTER: Benn P 

PROVIDER: S-EPMC12757817 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature