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

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology - 1 Jan 2026

Benn P, Hashimoto K, Souter V, Dhamankar R, Xu W, Kijacic D

Abstract excerpt

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...

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Cell-Free Nucleic Acids
Hydatidiform Mole
Polymorphism, Single Nucleotide
Pregnancy
Pregnancy Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Uniparental Disomy

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Identifiers

PMID: 41299888
DOI: 10.1002/uog.70144
PMCID: PMC12757817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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