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目的探讨应用荧光原位杂交(fluorescent in situ hybridization,FISH)技术用于快速产前诊断胎儿染色体非整倍体的临床价值。方法采用13、21和18、X、Y两组染色体探针,对308例未培养的羊水细胞样本进行染色体非整倍体检测。所有样本同时进行羊水细胞的常规G显带核型分析并作为标准,对FISH技术进行评价。结果 308例标本均成功杂交,共检出染色体异常14例,包括21三体10例、18三体2例、XXX 1例及XYY 1例,均与羊水培养细胞核型分析结果一致,另外9例染色体正常变异FISH技术未能检出。结论 FISH技术可以快速、准确地检测出胎儿染色体数目异常,联合羊水细胞培养能够更好的服务于临床,使产前诊断的效能达到最大化。
Objective To investigate the clinical value of fluorescence in situ hybridization (FISH) for rapid prenatal diagnosis of fetal aneuploidy. Methods Chromosome aneuploidy was detected in 308 uncultured amniotic fluid samples by using chromosome probes 13, 21 and 18, X and Y. All samples were subjected to conventional G-banding karyotype analysis of amniotic fluid cells and used as a standard to evaluate the FISH technique. Results All the 308 samples were successfully hybridized. There were 14 cases of chromosomal abnormalities including 10 cases of 21 trisomy, 2 cases of 18 trisomy, 1 case of 1 case of XY and 1 case of XYY, all of which were consistent with the karyotype analysis of amniotic fluid cultured cells. The other 9 cases Chromosome normal mutation FISH technology failed to detect. Conclusion FISH can detect the number of fetuses abnormally quickly and accurately, and combined with amniotic fluid cell culture can better serve the clinic and maximize the effectiveness of prenatal diagnosis.