染色体13/21α卫星探针用于产前诊断21三体综合征
Application of inter-fluorecence in situ hybridization of chromosome 13/21α satellite probe in amniotic cells for prenatal diagnosis trisomy 21 syndrome
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。
更多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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