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目的探讨对孕妇外周血中胎儿细胞进行非侵入性产前诊断的可行性。方法对６４例孕８～４０周孕妇外周血进行密度梯度离心法，富集胎儿细胞，并经显微镜下观察计数各种细胞所占百分比。同时，对所富集细胞经提取ＤＮＡ进行人Ｙ染色体特异ＤＮＡ扩增，判定胎儿性别并与新生儿性别进行对照。结果６４例孕妇外周血中，２５例观察到有核红细胞，占３９．０６％。６４例孕妇分娩３３例男性婴儿，其中２８例扩增出Ｙ特异带；另外３１例分娩女性婴儿，除１例出现Ｙ特异带，其余未见特异带。诊断的灵敏度为８４．８５％，特异度为９６．７７％，总符合率为９０．６３％。结论密度梯度离心法可从孕妇血中富集胎儿细胞，且所获得细胞已基本满足体外扩增Ｙ染色体基因所需要的模板量。
Objective To investigate the feasibility of noninvasive prenatal diagnosis of fetal cells in pregnant women. Methods 64 pregnant women with gestational age from 8 to 40 weeks were subjected to density gradient centrifugation to enrich fetal cells. The percentage of various cells was counted under the microscope. At the same time, the enriched cells were extracted DNA for human Y chromosome specific DNA amplification to determine the sex of the fetus and neonatal sex comparison. Results In 64 cases of peripheral blood of pregnant women, 25 cases of nucleated erythrocytes were observed, accounting for 39.06%. Sixty-four pregnant women gave birth to 33 male infants, of which 28 yielded Y-specific bands. Another 31 delivered female infants, except Y-specific bands in one case and no specific bands in the rest. The diagnostic sensitivity was 84.85%, the specificity was 96.77%, the total coincidence rate was 90.63%. Conclusion Density gradient centrifugation can enrich fetal blood from maternal blood, and the obtained cells have basically met the template needed to amplify the Y chromosome gene in vitro.