期刊
PRENATAL DIAGNOSIS
卷 35, 期 7, 页码 656-662出版社
WILEY
DOI: 10.1002/pd.4583
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资金
- National Institute for Health Research (NIHR) Programme Grants for Applied Research [RP-PG-0707-10107]
- NIHR Comprehensive Local Research Network
- Great Ormond Street Hospital Children's Charity
- NIHR comprehensive Biomedical Research Centre at Great Ormond Street Hospital
- National Institute for Health Research [NF-SI-0513-10141, RP-PG-0707-10107] Funding Source: researchfish
ObjectiveAccurate 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. MethodsAnalysis 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. ResultsPCR-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. ConclusionNGS 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. (c) 2015 John Wiley & Sons, Ltd.
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