荧光原位杂交在产前诊断中的作用探讨  

Study on the application of fluorescence in situ hybridization in the prenatal diagnosis

作　　者：贺方华 

机构地区：[1]山东省临沂市妇幼保健院遗传室,276001

出　　处：《中国计划生育学杂志》2013年第2期113-116,共4页Chinese Journal of Family Planning

基　　金：卫生部科研基金资助项目(WKJ2007-3-001)

摘　　要：目的:探讨荧光原位杂交技术(FISH)用于唐氏综合征产前诊断的优势。方法:采集589名孕18～24周妇女的羊水标本,对未培养的羊水间期细胞应用染色体GLP13/21特殊位点的荧光标记探针和CSP18/X/Y染色体着丝粒荧光标记探针进行FISH实验;同步进行羊水细胞培养,通过染色体核型分析并作为标准,对FISH技术进行评价。结果:FISH分析羊水间期细胞性染色体数目正常者586例(XX296例、XY290例),3例数目异常,与染色体核型分析结果一致;FISH和核型分析结果中发现6例21-三体,1例18-三体、1例13-三体、1例47,XXY、1例47,XXX、1例47,XYY;染色体核型分析发现7例染色体结构异常。结论:在产前诊断中同时开展FISH和羊水细胞染色体核型分析可弥补相互间的缺陷,使产前诊断的效能达到最大化。Objective ： To study the efficacy of fluorescence in situ hybridization （FISH） in the prenatal diagnosis of Down syndrome and other chromosomal abnormalities. Methods： The amniotic fluid samples were collected from 589 women at 18 - 24 weeks of gestation. The chromosome analysis of uncultured interphase amniocytes was done by means of FISH with the probes for chromosome GLP13/21 special sites and CSP 18/X/Y chromosome centromere. The karyotype analysis of the cul- tured amniocytes served as the standard to evaluate the efficacy of FISH technique. Results ： Interphase FISH revealed 589 ca- ses with the normal number of sex chromosomes （ 196 cases of XX and 290 cases of XY） and 3 cases with abnormal number of sex chromosomes （47, XXY; 47, XXX; 47, XYY）, which is consistent with the results of karyotype analysis. FISH also found 6 cases of trisomy 21, 1 case of trisomy 18 and 1 case of trisomy 13, confirmed by karyotype analysis. Karyotype analysis revealed 7 cases of chromosome structural abnormalities. Conclusion ： The combination of FISH and karyotype analysis can maximize the detection efficacy in prenatal diagnosis of chromosome abnormalities.

关 键 词：荧光原位杂交 羊水细胞培养 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]