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Article

Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.

BJOG : an international journal of obstetrics and gynaecology - 1 Oct 2022

Pacault Mathilde, Verebi Camille, Lopez Maureen, Vaucouleur Nicolas, Orhant Lucie, Deburgrave Nathalie, Leturcq France, Vidaud Dominique, Girodon Emmanuelle, Bienvenu Thierry, Nectoux Juliette

Abstract excerpt

OBJECTIVES: Cell-free fetal DNA (cffDNA) analysis is performed routinely for aneuploidy screening, RhD genotyping or sex determination. Although applications to single gene disorders (SGD) are being rapidly developed worldwide, only a few laboratories offer cffDNA testing routinely as a diagnosis service for this indication. In a previous report, we described a standardised protocol for non-invasive exclusion of...

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PMID: 35486001
DOI: 10.1111/1471-0528.17201

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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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