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目的探讨荧光原位杂交(FISH)技术用于产前诊断绒毛间期细胞染色体非整倍体异常的临床应用价值。方法采用FISH技术对我院计划生育门诊人工流产的53例40-84天的流产绒毛进行5条染色体(21、13、18、X和Y)的快速检测。同时,将绒毛接种、培养,进行常规细胞染色体核型分析,作为FISH检测结果的对照。结果被检测的53例样本中,用FISH检测,均获得诊断结果,检测成功率为100%,而常规细胞染色体核型分析,则只有51例获得诊断结果,有2例未培养成功,检测成功率为96.23%(51/53)。FISH检测结果与常规细胞染色体核型分析结果有2例不相符合,结果符合率为96.08%(49/51)。结论应用FISH技术检测未培养绒毛间期细胞染色体数目异常,具有快速,简便,使用样本量少等优势,具有一定的临床应用价值。
Objective To investigate the clinical value of fluorescence in situ hybridization (FISH) in prenatal diagnosis of aneuploidy in villus interphase cells. Methods FISH was used to detect the 5 chromosomes (21, 13, 18, X and Y) in 53 cases of 40-84 day abortion in artificial abortion of family planning clinic in our hospital. At the same time, the villus inoculation, culture, conventional karyotype analysis of chromosomes as a control FISH test results. Results Of the 53 samples tested, all of them were diagnosed by FISH, and the success rate was 100%. However, only 51 of them were diagnosed by conventional karyotype analysis, and 2 of them were unsuccessfully cultured. The detection was successful The rate was 96.23% (51/53). FISH test results and routine cell chromosome karyotype analysis of two cases do not match, the result was 96.08% (49/51). Conclusion The detection of abnormal chromosome number in uncultured villus cells by FISH has the advantages of fast, simple and small sample size, and has a certain clinical value.