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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 investigate the feasibility of using RT-MLPA to detect RNA-SNP in non-invasive prenatal diagnosis of Down’s syndrome. Methods Serological samples from 217 pregnant women with gestational age more than 14 gestational weeks were collected and free fetal RNA was extracted. The SNP loci were amplified by RT-MLPA and analyzed by capillary electrophoresis. Point peak area ratio to judge, and select Down syndrome prenatal diagnosis of gold standard - karyotype analysis results as a control method. Results Positive samples were detected in 61 cases. The sensitivity and specificity were 92.42% and 99.30% respectively. Conclusion The method of reverse transcription-multiplex PCR amplification for detection of RNA-SNP in noninvasive prenatal diagnosis of Down’s syndrome has a wide range of applications in prenatal screening of Down’s syndrome.