【摘要】 目的　探讨利用孕妇外周血中胎儿细胞进行产前诊断的可行性。　方法　采用套式聚合酶链反应 (polymerase chain reaction,PCR)技术扩增孕妇外周血中男性胎儿性别决定基因 (sex-determ ining region Y,SRY) ,并与胎儿实际性别相对照。　结果　 74例孕 7～ 4 0周的孕妇中 38例怀男胎 ,其中 2 3例扩增出 Y特异带 ;另外 36例怀女胎孕妇中 ,仅 1例出现 Y特异带。SRY套式 PCR扩增系统在孕中期 ,孕晚期检查孕妇外周血中男胎灵敏度 (72 .7%、 71.4 % )、特异度 (10 0 .0 % )和符合率 (87.0 %、 90 .5 % )高 ,误诊率为 0 ,而在孕早期灵敏度 (5 0 .0 % )、特异度 (90 .0 % )及符合率 (6 3.3% )较低 ,误诊率 (10 .0 % )、漏诊率 (5 0 .0 % )较高。　结论　胎儿细胞在孕早期即存在于孕妇外周血中 ,但直接利用孕妇外周血中胎儿细胞检查 SRY基因的检出率较低更多还原

【Abstract】 Objective To evaluate a method of non-invasive prenatal gene diagnosis. Methods We used a nested-polymerase chain reaction(PCR) method to detect the single copy of sex-determining region Y(SRY)from DNA extracted from maternal peripheral blood in 74 women who had a gestational age of 7～40 weeks. Results Y specific DNA sequences were detected in 23 out of 38 pregnant women who bore a male fetus.One Y specific DNA sequence was detected in 36 women who gave birth of female babies.The sensitivity was 60 % and specificity 97 %.The overall accurate diagnosis was 78 %. Conclusion Fetal male DNA sequence can be identified in unsorted maternal peripheral blood even in the early pregnant stage by nested-PCR,but this means has not reached a satisfactory accuracy since the lower concentration of fetal cells in maternal peripheral blood circulation.更多还原