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本文分别介绍了孕妇血浆中胎儿DNA和RNA的特性以及近年采利用胎儿DNA和胎儿RNA进行产前基因诊断技术的研究进展,并且着重介绍了其中三种产前基因诊断技术:多重连结探针扩增法(MLPA)、单碱基延伸-质谱分析(SABER-MS)和SNP-RNA等位基因比率法。综述了利用胎儿核酸进行产前诊断技术在临床上的应用。
This paper introduces the characteristics of fetal DNA and RNA in pregnant women, as well as the research progress of prenatal genetic diagnosis using fetus DNA and fetal RNA in recent years, and introduces three kinds of prenatal genetic diagnosis techniques: multiple linked probes (MLPA), single base extension-mass spectrometry (SABER-MS) and SNP-RNA allele ratio method. The clinical application of prenatal diagnosis using fetal nucleic acid is reviewed.