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目的探讨采用多色荧光原位杂交(fluo rescence in situ hybridization,FISH)技术检测未培养羊水细胞染色体异常的可行性。方法应用着丝粒探针、特异性序列探针对16例孕妇的未培养羊水细胞进行FISH分析,对5条染色体(13号、18号、21号、X和Y)进行检测并和常规核型分析进行对照。结果16例羊水细胞检测均获得诊断结果,发现1例异常胎儿为18-三体。FISH检测与常规核型分析结果一致。结论多色FISH技术快速、简便、可靠,可一次实验检测多条染色体异常。具有较大临床应用价值。
Objective To investigate the feasibility of using chromosomal fluorescence in situ hybridization (FISH) to detect chromosomal abnormalities in uncultured amniotic fluid cells. Methods The centromere probe and specific probe were used to detect the non-cultured amniotic fluid cells in 16 pregnant women. Five chromosomes (No.13, No.18, No.21, X and Y) were detected and compared with the normal nuclei Type analysis for comparison. Results 16 cases of amniotic fluid cells were diagnosed, and found that 1 case of abnormal fetal 18-trisomy. FISH detection and conventional karyotype analysis results. Conclusion The multi-color FISH technique is rapid, simple and reliable and can detect multiple chromosomal abnormalities in one experiment. Has great clinical value.