Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Prenat Diagn
; 35(7): 656-62, 2015 Jul.
Article
em En
| MEDLINE
| ID: mdl-25728633
ABSTRACT
OBJECTIVE:
Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders.METHODS:
Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia.RESULTS:
PCR-RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR-RED.CONCLUSION:
NGS provides an accurate, flexible approach to non-invasive prenatal diagnosis of de novo and paternally inherited mutations. It is more sensitive than PCR-RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non-invasive prenatal diagnosis for other monogenic disorders.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acondroplasia
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Displasia Tanatofórica
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DNA
/
Testes Genéticos
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Análise de Sequência de DNA
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Sequenciamento de Nucleotídeos em Larga Escala
/
Testes para Triagem do Soro Materno
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
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Humans
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Male
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Reino Unido