染色体13／21α卫得探针用于产前诊断21三体综合征

目的：探讨应用染色体13／21α卫星探荧光原位杂交（FISH）技术行产前论断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丰分比分别为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用于未培养的羊不细胞可以快速，准确地在产前诊断21三体综合征。

Application of inter-fluorescence in situ hybridization of chromosome 13/21 alpha satellite probe in amniotic cells for prenatal diagnosis trisomy 21 syndrome]

OBJECTIVE: To investigate the prenatal diagnosis of trisomy 21 syndrome using chromosome 13/21 alpha 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 13/21 alpha 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 chi 2 values (P < 0.01). Trisomy 21 syndrome was diagnosed when nucleus of five signals accounted for more than 36.1%. CONCLUSION: FISH with Chromosome 13/21 alpha satellite probe is a valuable method for rapid prenatal diagnosis of trisomy 21 syndrome.