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目的应用荧光原位杂交(FISH)技术检测早期自然流产胚胎染色体数目异常,以期发现经典的细胞遗传学方法可能遗漏的信息,探讨荧光原位杂交(FISH)技术用于诊断绒毛间期细胞染色体数目异常的临床应用价值。方法采用FISH技术对我院200例50-84天的自然流产胚胎的绒毛进行7条染色体数目(13、16、18、21、22、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200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169例获得诊断结果,检测成功率为84.5%。除一例染色体结构异常的标本FISH未检测出来外,余下标本,FISH检测结果与常规细胞染色体核型分析结果均相符合。结论 FISH技术与传统的绒毛细胞培养染色体核型分析相比,过程迅速,方法简单,提高了诊断的成功率,但无法完全取代传统的染色体核型分析,应将两者结合应用于临床。
Objective To detect the number of chromosome abnormalities in early spontaneous abortion embryos by fluorescence in situ hybridization (FISH) in order to find the possible missing information by classical cytogenetics and to investigate the relationship between fluorescence in situ hybridization (FISH) and chromosomal number Abnormal clinical value. Methods FISH was used to detect the number of chromosomes (13, 16, 18, 21, 22, X and Y) in 200 cases of spontaneous abortion embryos from 50 to 84 days 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 200 samples tested, the diagnostic results were obtained by FISH. The success rate was 100%. However, only 169 of them were diagnosed by conventional karyotype analysis. The detection success rate was 84.5%. Except for the case of a specimen with abnormal chromosomal structure, FISH was not detected, the remaining specimens, FISH test results were consistent with the results of conventional cell karyotype analysis. Conclusion Compared with traditional karyotype analysis of villus cell culture, FISH technique has the advantages of quick process, simple method and high diagnostic success rate. However, FISH can not completely replace the traditional karyotype analysis, and should be combined with clinical application.