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Non-invasive prenatal diagnosis of fetal aneuploid using PRINS
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF PERINATAL MEDICINE
- Issue:
- 2
- DOI:
- 10.3760/cma.j.issn.1007-9408.2007.02.004
- Key Word:
- 原位标记;流式细胞术;Klinefelter综合征;唐氏综合征;产前诊断
Abstract： 目的 利用引物原位合成术(primed in situ labelling, PRINS)进行产前诊断胎儿非整倍体,探索无创性产前诊断的可靠便捷的新方法. 方法 采用流式细胞术从120例孕妇外周血中分离出胎儿有核红细胞,应用PRINS技术分别检测胎儿有核红细胞内的X、Y及21号染色体. 结果 120例标本中每例都可以检测出X染色体,敏感性和特异性均为100%;检测出Y染色体69例,敏感性92%(69/75),特异性为100%(69/69),检测出Klinefelter(XXY)综合征1例,唐氏综合征2例. 结论 应用PRINS技术对孕妇外周血中的胎儿细胞进行无创性产前诊断胎儿非整倍体是一种快速、敏感性高、特异性强的新方法,具有应用于临床的前景与价值.
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