应用荧光原位杂交技术进行孕早期产前诊断的研究  

The application of fluorescent in situ hybridization in prenatal diagnosis during early pregnancy

作　　者：方敏[1] 俞信忠[1] 曾艳[1] 许平[1] 范佳鸣[1] 

机构地区：[1]浙江绍兴市妇幼保健院,312000

出　　处：《中国优生与遗传杂志》2011年第3期37-38,共2页Chinese Journal of Birth Health & Heredity

摘　　要：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 evaluate the value of applying fluorescent in situ hybridization in prenatal diagnosis on chromosomal aneuploidies of villous cells.Methods：Chorionic villi from 53 pregnant women with 40-84 gestational days in our hospital were selected for prenatal diagnosis.Five chromosomes（21,13,18,X,Y）were detected with FISH technology.Then the karyotypes from standard cytogenetic analysis were compared with the FISH results.Results：Of all the samples,53 samples were successfully tested by FISH,the rate of successful detection was 100%.In chromosome karyotypes analysis,51 samples were achieved since failed cell culture occurred in 2 cases.The rate of successful detection was 96.23%.The results of FISH and those of cytogenetic karyotype analysis didn′t match in 2 cases,so the coincidence rate of the two was 96.08%.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 clinical value in the field of prenatal diagnosis.

关 键 词：产前诊断 绒毛细胞 荧光原位杂交 非整倍体 

分 类 号：R714.55[医药卫生—妇产科学]