唐氏综合征无创性产前诊断的研究

Non-Invasive Prenatal Diagnosis of Down's Syndrome

目的探讨应用逆转录-多重链接探针扩增技术(RT-MLPA)检测RNA-SNP进行临床无创产前诊断唐氏综合征的可行性。方法收集217例14孕周以上(含14孕周)孕妇的外周血血清,抽提胎儿游离RNA,RT-MLPA技术扩增SNP位点片段,并对其进行毛细管电泳分析,通过对杂合SNP位点峰面积比值进行判断,并选择唐氏综合征产前诊断金标准-染色体核型分析结果作为对照方法。结果检测到阳性样本61例,检测的灵敏度和特异度分别为92.42%和99.30%。结论逆转录-多重链接探针扩增技术检测RNA-SNP进行临床无创产前诊断唐氏综合征的方法在唐氏综合征的产前筛查中具有广泛的应用前景。

Objective To evaluate the reverse transcription-multiplex ligation-dependent probe amplification （RT-MLPA） for the detection of RNA-SNP for non-invasive prenatal diagnosis of Down＇s syndrome.Methods Free fetal RNA was extracted from the plasma of peripheral blood in 217 pregnant women of pregnancy ≥14 weeks and five RNA-SNPs in PLAC4 gene were analyzed by RT-MLPA, combining with capillary electrophoresis technology.Data was analyzed for the different peaks or alleles varying in intensity （peak area） and size （in base pairs） after capillary electrophoresis technology.Karyotype analysis was chosen the gold standard for prenatal diagnosis of trisomy 21.Results 61 samples of Down＇s syndrome from the 217 blinded samples were correctly identified which were also showed the same results with karyotype analysis , and the sensitivity and specificity were 92.42% and 99.30% , respectively.Conclusion RT-MLPA to detect RNA-SNP has a wide application prospect for non-invasive prenatal diagnosis of diseases.