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Article

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

European journal of human genetics : EJHG - 1 Oct 2025

de Koning Maayke A, Srebniak Malgorzata I, Oldekamp Esther J, Hahn Denise, Diderich Karin E M, Bruggenwirth Hennie T, Santen Gijs W E, Hoffer Mariëtte J V, Suerink Manon

Abstract excerpt

Prenatal Exome Sequencing (pES) has a significant diagnostic yield but time pressure and limited phenotypic information make interpretation of Variants of Uncertain Significance (VUS) more challenging than in a postnatal setting. We share our experiences of prenatal reporting of highly suspicious VUS. We retrospectively analyzed pregnancies in which VUS identified by pES were reported to parents during pregnancy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40841822
DOI: 10.1038/s41431-025-01924-8
PMCID: PMC12480083

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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