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Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes.

Prenatal diagnosis - 1 May 2024

Johansen Margriet, Haskell Gloria T, Arreola Alexandra, Riordan Christine, Gadi Inder K, Penton Andrea, Papenhausen Peter R, Schwartz Stuart

Abstract excerpt

OBJECTIVES: To investigate the prenatal detection rate of mosaicism by SNP microarray analysis, in which an individual has not one, but two, complete genomes (sets of DNA) in their body, a normal biparental line with a Genome Wide Uniparental Disomy (GWUPD) cell line was used. METHODS: This study retrospectively examines the prenatal detection of GWUPD in a cohort of ∼90,000 prenatal specimens and ∼20,000...

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Identifiers

PMID: 38558419
DOI: 10.1002/pd.6554

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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