目的探讨应用染色体13/21α卫星探针荧光原位杂交（FISH）技术行产前诊断21三体综合征的价值。方法选择10例经产前细胞遗传学检查证实为孕正常胎儿孕妇的羊水细胞（对照组）、3例证实为孕21三体胎儿孕妇的羊水细胞（观察组），用13/21α卫星探针对未经培养的羊水细胞间期核进行FISH杂交。结果两组总杂交率分别为36.7%和38.6%，差异无显著性（P>0.05）。对照组和观察组含4个杂交信号的核平均百分比分别为36.5%和3.9%，含5个杂交信号的核平均百分比分别为4.0%和36.1%，差异有极显著性（P<0.01），含5个信号的核百分比＜36.1%可作为21三体综合征的诊断标准。结论 13/21α卫星探针间期FISH 用于未培养的羊水细胞可以快速、准确地在产前诊断21三体综合征。%Objective To investigate the prenatal diagnosis of trisomy 21 syndrome using chromosome 13/21α satellite probe fluorescence in situ hybridization (FISH) on uncultured interphase cells from amniotic fluid. Methods The interphase amniocytes of 10 fetuses who were detected normal and 3 fetus who were detected trisomy by prenatal cytogenetic diagnosis were selected. We did FISH which used chromosome 13/21α satellite probe directly on the uncultured amniocytes of these 13 samples. Results The total rate of the hybridization was 36.7% and 38.6% in control group and observation group respectively, showed no significantly difference. There were four signals in the nucleus, two groups were 36.5% and 3.9% respectively,there were five signals in the nucleus, two groups were 4.0%and 36.1% respectively. The control group and observation group showed significantly difference by the statistical χ2 values (P<0.01).Trisomy 21 syndrome was diagnosed when nucleus of five signals accounted for more than 36.1%. Conclusion FISH with Chromosome13/21α satellite probe is a valuable method for rapid prenatal diagnosis of trisomy 21syndrome.
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