Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
cell-free DNA
droplet digital PCR
monogenic disorders
non-invasive prenatal diagnosis
paternal variant exclusion
Journal
BJOG : an international journal of obstetrics and gynaecology
ISSN: 1471-0528
Titre abrégé: BJOG
Pays: England
ID NLM: 100935741
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
revised:
24
12
2021
received:
22
04
2021
accepted:
22
01
2022
pubmed:
30
4
2022
medline:
14
9
2022
entrez:
29
4
2022
Statut:
ppublish
Résumé
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 paternal variant in SGD. Three years later, we now report our clinical experience with the protocol. Descriptive study. Multi-centre French. Indications for referral included pregnancies at risk of 25% or 50% of paternally inherited SGD, and pregnancies associated with an increased risk of SGD due to a de novo variant, either from strongly suggestive ultrasound findings or from a possible parental germinal mosaicism in the context of a previously affected child. Non-invasive prenatal diagnosis was performed using custom assays for droplet digital PCR. Feasibility, diagnostic performance and turn-around time were evaluated. Mean time for a new assay design and validation was evaluated at 14 days, and mean result reporting time was 6 days. All referred pathogenic variants could be targeted except one located in a complex genomic region. A result was obtained for every 198 referrals except two. This service was successfully implemented as a routine laboratory practice. It has been widely adopted by French clinicians and patients for paternal variant exclusion in various disorders. A robust approach to non-invasive prenatal exclusion of paternal pathogenic variant in a diagnosis setting.
Identifiants
pubmed: 35486001
doi: 10.1111/1471-0528.17201
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
1879-1886Subventions
Organisme : Association Française contre les Myopathies
Organisme : association Vaincre la Mucoviscidose
Organisme : Agence de la Biomédecine
Informations de copyright
© 2022 John Wiley & Sons Ltd.
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