荧光原位杂交技术与染色体核型分析在产前诊断中的应用  

Application of fluorescence in situ hybridization and chromosome karyotype analysis in prenatal diagnosis

作　　者：曾海燕[1] 吴杰[1] 

机构地区：[1]广东省梅州市人民医院检验科,514031

出　　处：《国际检验医学杂志》2015年第4期501-502,505,共3页International Journal of Laboratory Medicine

摘　　要：目的探索荧光原位杂交技术(FISH)在产前诊断中的临床应用价值及相对于羊水细胞染色体核型分析的优缺点。方法对2012年4月至2013年11月在梅州市人民医院进行唐氏综合征筛查并诊断为高危的183例孕妇进行羊水细胞核型分析及FISH诊断,并对结果进行分析。结果核型分析结果显示,183例孕妇中有核型异常者9例,其中3例18-三体,3例21-三体,1例XXY和2例XO;FISH诊断结果显示8例异常,其中2例18-三体,3例21-三体,1例XXY和2例XO。结论 FISH技术用于产前诊断效率和成功率高,但单纯FISH诊断会出现小概率的漏诊,可与核型分析互补缺陷,使产前诊断效能最大化。Objective To investigate the application value of fluorescence in situ hybridization（FISH）in prenatal diagnosis and compared with karyotype analysis of cells from amniotic fluid.Methods A total of 183high-risk pregnant women received for a FISH and karyotype analysis who taken prenatal disgnosis in Meizhou people′s hospital between April 2012 and November 2013.Results According to the test results of karyotype analysis.There were 9cases of chromosomal abnormality in 183 pregnant women.Among 9cases,3cases were trisomy 21,3cases were trisomy 18,2cases were XO and one case of XXY.One case of trisomy 18 was showed normal using the FISH.Other cases were consistent with karyotype analysis result.Conclusion FISH is a rapid,reliable and prompt prenatal diagnosis method,combined with karyotype analysis will maximize the detection efficacy in prenatal diagnosis of chromosome abnormalities.

关 键 词：荧光原位杂交 产前诊断 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]