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目的 :依据孕妇宫腔内存在滋养细胞的理论 ,寻找一种非创伤性产前基因诊断的新方法。方法 :用聚合酶链反应 (PCR)对 1 5例孕 6～ 1 2周孕周初产妇宫腔胎儿脱落细胞的 DNA进行特异扩增 ,扩增的基因为 Y染色体短臂单拷贝基因片段 (DYS1 4) ,扩增片段的大小为2 39bp。结果 :8例妊娠男性胎儿中 7例出现特异扩增带 ,检出率为 87.5%。 7例妊娠女性胎儿未出现扩增带 ,无假阳性。本次研究的符合率为 93.3%。结论 :聚合酶链反应检测孕妇宫腔滋养细胞 DNA具有较高的灵敏度和特异性 ,孕早期宫腔冲洗作为非创伤性产前基因诊断的一种取材方法可应用于临床。
Objective: To find a new method of non-invasive prenatal diagnosis based on the theory of trophoblast in pregnant women. Methods: DNA was amplified by polymerase chain reaction (PCR) in 15 cases of primiparous fetal uterine fetus exfoliated cells from 6 weeks to 12 weeks gestational weeks. The amplified gene was a single copy gene fragment of Y chromosome DYS1 4), the size of the amplified fragment was 239bp. Results: Among 8 pregnant fetuses, 7 cases showed specific amplification bands, the detection rate was 87.5%. 7 cases of fetal females did not appear to expand the band, no false positive. The coincidence rate of this study was 93.3%. Conclusion: Polymerase chain reaction (PCR) detection of uterine trophoblastic DNA in pregnant women with high sensitivity and specificity, uterine flushing in early pregnancy as a non-invasive prenatal genetic diagnosis of a material available for clinical use.