染色体核型分析和荧光原位杂交技术用于产前诊断的价值

发布时间：2018-10-24 17:28

【摘要】：目的:应用染色体核型分析和荧光原位杂交(FISH)技术对2 708例孕妇的羊水细胞进行检测,探讨两种方法用于产前诊断的临床意义。方法:对2 708例有产前诊断指征的孕妇行羊膜腔穿刺术,获得羊水细胞分别进行细胞培养、染色体核型分析及FISH检测(FISH选取13、18、21、X、Y五条染色体特异性探针杂交)。结果:2 708例羊水细胞染色体核型分析培养失败3例,成功率99.9%。2 705例培养成功样本中检出染色体多态39例(1.4%);检出染色体异常核型105例(3.9%),其中染色体非整倍体异常82例,染色体结构异常23例。FISH检测成功率100%。共检出13、18、21、X、Y染色体非整倍体异常82例,性染色体嵌合2例,与染色体核型分析结果相符,1例嵌合型20号染色体三体未能检出,染色体结构异常及多态性均未检出。结论:染色体核型分析可检出全部染色体数目及结构异常,但对孕周要求较为严格、需要样本量大、诊断周期长、易培养失败、分辨率有限;FISH技术对孕周无严格要求,需要样本量小,可直接对未培养羊水细胞进行检测,快速、简便,但目前仅能检出有限的几条染色体数目异常,尚不能检出染色体平衡性结构改变如平衡易位、倒位、染色体多态等。
[Abstract]:Objective: to detect the amniotic fluid cells of 2 708 pregnant women by chromosome karyotype analysis and fluorescence in situ hybridization (FISH), and to explore the clinical significance of the two methods in prenatal diagnosis. Methods: 2 708 pregnant women with prenatal diagnosis were treated with amniocentesis. The amniotic fluid cells were cultured, karyotype analysis and FISH analysis were performed. Results: chromosomal karyotype analysis of 2 708 amniotic fluid cells failed in 3 cases, the success rate was 99.9.2,705 cases (39 cases, 1.4%), chromosome abnormal karyotype was detected in 105 cases (3.9%), chromosome aneuploidy was found in 82 cases. 23 cases were abnormal in chromosome structure. The success rate of FISH was 100%. A total of 82 cases of chromosomal aneuploidy and 2 cases of sex chromosome chimerism were detected. The results were consistent with the results of chromosome karyotype analysis. Trisomy 20 was not detected in 1 case of chimeric type, and no abnormal chromosome structure or polymorphism was detected. Conclusion: chromosome karyotype analysis can detect the abnormal number and structure of all chromosomes, but the requirements for gestational age are relatively strict, such as large sample size, long diagnostic period, easy to culture failure, limited resolution, and FISH technique has no strict requirements for gestational weeks. It needs small sample size to detect uncultured amniotic fluid cells directly. It is fast and simple. However, it can only detect a limited number of chromosomes at present, and can not detect chromosomal equilibrium structural changes such as balanced translocation and inversion. Chromosome polymorphism, etc.
【作者单位】：郑州大学第三附属医院检验科;
【分类号】：R714.55

【相似文献】