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A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR

机译:通过表观遗传标记和实时qPCR对唐氏综合症进行非侵入式产前新诊断

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The Cyprus Institute of Neurology and Genetics, Nicosia, CyprusIntroduction: Non-invasive prenatal diagnosis (NIPD) of Down syndrome is rapidly evolving. Currently, two applications for NIPD of Down syndrome have been developed with potential and have displayed positive results; the NIPD using next-generation sequencing technologies and the NIPD using the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (qPCR).Areas covered: The MeDIP real-time qPCR approach is based on the identification of differentially methylated regions (DMRs) and their use for discriminating normal from Down syndrome cases. DMRs were identified using high-resolution oligo-arrays. A subgroup of DMRs was selected for further investigation. Through the design of a discriminant equation which combines the results obtained from different DMRs, normal and abnormal cases are correctly classified indicating 100% sensitivity and specificity. Expert opinion: Previous studies have also identified DMRs between non-pregnant female blood and placental DNA. However, these methods have been associated with a number of limitations including the low sensitivity and/or specificity of the assays, the limited number of identified DMRs or methylation sensitive sites and SNPs located on DMRs. These limitations have been overawed by the development of the MeDIP real-time qPCR-based methodology.
机译:塞浦路斯尼科西亚塞浦路斯神经病学和遗传学研究所简介:唐氏综合症的非侵入性产前诊断(NIPD)正在迅速发展。目前,唐氏综合症的NIPD的两个应用已被开发,并显示出积极的结果。使用新一代测序技术的NIPD和使用甲基化DNA免疫沉淀(MeDIP)实时定量聚合酶链反应(qPCR)的NIPD。 DMR)及其在区分正常人和唐氏综合症病例中的用途。 DMRs使用高分辨率寡核苷酸阵列进行鉴定。选择了DMRs的一个子组进行进一步研究。通过结合结合从不同DMR获得的结果的判别方程的设计,可以正确分类正常和异常病例,表明100%的敏感性和特异性。专家意见:先前的研究还发现了未怀孕女性血液和胎盘DNA之间的DMR。然而,这些方法与许多限制有关,包括测定的低灵敏度和/或特异性,鉴定的DMR或位于DMR上的甲基化敏感位点和SNP的数量有限。这些限制已被基于MeDIP实时qPCR的方法开发所克服。

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