FISH技术在产前诊断中的应用价值研究

目的 使用荧光原位杂交（FISH）技术对常见胎儿染色体数目异常进行快速诊断,结合羊水细胞培养染色体核型分析技术形成产前诊断体系,并对其临床应用价值进行评价.方法 应用诊断最常见染色体病的5种染色体（13、18、21、X和Y）特异性FISH探针对480例未经培养羊水细胞进行产前诊断,并和同时进行的羊水培养染色体核型分析相比较.结果 480例未经培养羊水细胞FISH实验全部获得检测结果,并发现21-三体综合征2例,18-三体综合征1例,克氏综合征1例,特纳综合征 1例,与羊水培养染色体分析结果一致,但报告时间（2至3d）与羊水染色体分析报告时间（2~3周）相比大为缩短.受固有技术限制有6例结构异常未能检出,但应用FISH技术对其中1例与性染色体有关的结构异常进行辅助诊断,获得了成功.结论 FISH技术在常见染色体数目异常产前诊断中应用行之有效,与羊水染色体核型分析技术相结合,将使产前诊断更加高效和安全.

Fluorescence in situ hybridization(FISH) technique combined with karyotyping analysis in prenatal diagnosis

Objective To evaluate the clinical application of the combination of fluorescence in situ hybridization （FISH） technique and karyotyping analysis in prenatal diagnosis. Methods FISH technology with the centromeric probes of chromosome 13, 18, 21,X and Y was applied in 480 amniotic fluid specimens, the results were compared with those of the G banding karyotypes from standard cytogenetic analysis in cultured amniotic fluid cells. Results Total 480 uncultured amniotic fluid specimens were successfully tested by FISH and two Down＇ s syndrome, one Edwards syndrome, one Klinefelter syndrome and one Turner syndrome were detected. The results obtained by FISH were consistent with those from karyotyping analysis. FISH （2-3 days） was faster than karyotyping（2-3 weeks） to get results. Karyotypes analysis detected 6 cases of chromosome structural abnormalities which were not detected by FISH, however, one of them with a sex chromosome-related structural anomaly was identified correctly with the assistance of FISH method. Conclusion In combination with karyotyping analysis, the FISH thchnology of uncultured amniotic fluid cells will be a rapid, accurate, safe and sensitive method for prenatal diagnosis.