用荧光原位杂交技术快速诊断100例早期自然流产胚胎染色体数目异常

目的探讨荧光原位杂交(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100例50-84天的流产绒毛进行7条染色体(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100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91例获得诊断结果,检测成功率为91%。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。

Rapid diagnosis of chromosomes abnormalities in 100 embryos by fluorescence in situ hybridization technique

Objective： To investigate the clinical value of fluorescence in situ hybridization （FISH） in chromosomes abnormalities of villus samples from the embryos for rapid prenatal diagnant. Methods： Using chromose -specific DNA probes of 13, 16, 18, 21, 22, X and Y, the chorionic villi from 100 abortive women were detected by FISH. The routine analysis of amniotic cell karyotypes served as parallel diagnosis was performed at same time. Results ： Of all the samples, 100 samples were successfully tested by FISH, the rate of successful detection was 100%. In chromosome karyotypes analysis, 91 samples were achieved since failed cell culture oc- curred in 9 cases. The rate of successful detection was 91%. The results of FISH and those of cytogenetic karyotype analysis all matched. Conclusion： FISH technology used in prenatal diagnosis on chromosomal abnormalities in uncultured villous cells showed the following advantages, such as highly efficient, low cost, and small amounts of samples needed, so this technology holds an important clinicalvalue in the field of prenataldiagnosis.