Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders.
Cell-Free Nucleic Acids
/ genetics
Cystic Fibrosis
/ diagnosis
Diagnostic Tests, Routine
/ methods
Feasibility Studies
Female
Fetal Diseases
/ diagnosis
Follow-Up Studies
Haplotypes
Humans
Male
Muscular Dystrophy, Duchenne
/ diagnosis
Noninvasive Prenatal Testing
/ methods
Polymorphism, Single Nucleotide
Pregnancy
Prenatal Diagnosis
/ methods
Retrospective Studies
Sensitivity and Specificity
Spinal Muscular Atrophies of Childhood
/ diagnosis
Journal
The Journal of molecular diagnostics : JMD
ISSN: 1943-7811
Titre abrégé: J Mol Diagn
Pays: United States
ID NLM: 100893612
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
26
11
2019
revised:
30
04
2020
accepted:
01
06
2020
pubmed:
20
6
2020
medline:
28
8
2021
entrez:
20
6
2020
Statut:
ppublish
Résumé
A relative haplotype dosage (RHDO)-based method was developed and implemented into routine clinical practice for noninvasive prenatal diagnosis (NIPD) of multiple single-gene disorders: spinal muscular atrophy, Duchenne and Becker muscular dystrophies, and cystic fibrosis. This article describes the experiences of the first 152 pregnancies to have NIPD by RHDO as part of a routine clinical service. Provision of results within a clinically useful time frame (mean, 11 calendar days) was shown to be possible, with a very low failure rate (4%), none being due to a technical failure. Where follow-up confirmatory testing was performed for audit purposes, 100% concordance was seen with the NIPD result, and no discrepancies have been reported. The robust performance of the assay, together with high sensitivity and specificity, demonstrates that NIPD by RHDO is feasible for use in a clinical setting.
Identifiants
pubmed: 32553884
pii: S1525-1578(20)30358-5
doi: 10.1016/j.jmoldx.2020.06.001
pmc: PMC7471768
pii:
doi:
Substances chimiques
Cell-Free Nucleic Acids
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Validation Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
1151-1161Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom
Informations de copyright
Copyright © 2020 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.
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