FISH检测染色体数目异常在胚胎停育患者中的应用

The application of FISH detection in infertility with chromosomal abnormalities with mbryo damage

目的探讨FISH检测染色体数目异常在胚胎停育患者中的应用。方法选取102例胚胎停育患者,获取绒毛,对7种染色体(13、16、18、21、22、X、Y)行FISH检测,同期行细胞培养核型分析作为对照。结果 FISH检测共检出异常核型40例,异常率39.22%;对照法传统细胞培养染色体核型分析共检出异常核型43例,异常率46.74%。染色体异常中染色体数目异常占染色体异常93.02%,其中常染色体三体最多见,占60.47%。结论:FISH技术可对胚胎停育绒毛组织进行及时、有效检测分析,做出遗传学诊断;FISH技术较传统细胞培养方法更加方便、快捷,对胚胎停育的病因研究更实用、有效,可作为细胞培养法染色体核型分析的有效补充。

Objective To investigate the application of FISH detection in infertility with chromosomal abnormalities with mbryo damage. Methods 102 embryo damage patients were randomly selected and divided into two groups, and among them, 62 cases were in natural pregnancy group, 40 cases in assisted reproductive technology group. The villi samples of 102 patients were detected, from seven kinds of chromosomes （13, 16, 18, 21, 22, X and Y） by means of FISH, taking cell culture karyotyping as a control method. Results FISH detection of abnormal karyotypes were detected the abnormal rate of 39.22%, and the control method of the traditional cell culture karyotype analysis of abnormal karyotypes were detected the abnormal rate of 46.74%, the most common autosomal trisomy accounting for 60.47%. The rate of abnormal karyotype fertility decreased with the increasing of embryo damage, but the difference was not statistically significant among the sample groups （P 〉 0.05 ）. Conclusion FISH technique can give the villi of embryo damage time- ly and effective detection and analysis, making genetic diagnosis. Compared with traditional cell culture method, FISH technology is more convenient and fast. It is more practical and effective to embryo damage. It can serve as an effective complement to detection tech- niques for culture karyotype analysis.