Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders.
J Mol Diagn
; 22(9): 1151-1161, 2020 09.
Article
em En
| MEDLINE
| ID: mdl-32553884
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
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Haplótipos
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Atrofias Musculares Espinais da Infância
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Distrofia Muscular de Duchenne
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Fibrose Cística
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Doenças Fetais
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Teste Pré-Natal não Invasivo
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Aspecto:
Implementation_research
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
J Mol Diagn
Ano de publicação:
2020
Tipo de documento:
Article