荧光原位杂交法（FISH）快速检测胎儿染色体异常及临床应用评价  

Rapid Detection of Chromosomal Abnormalities in Clinical Amniotic Fluid Samples by Fluorescence in Situ Hybridization

作　　者：潘小平[1] 赖金国 许伟华[1] 钟小青[1] 蔡高涛[1] 李素梅[1] 

机构地区：[1]广州市花都区人民医院检验科,广州510800

出　　处：《现代检验医学杂志》2012年第2期60-62,65,共4页Journal of Modern Laboratory Medicine

摘　　要：目的建立一种快速、准确检测胎儿染色体异常的方法，以协助产前诊断。方法针对易引起胎儿畸形常见的五条染色体，用不同的荧光素标记，建立全细胞荧光原位杂交法（FISH），并对145份临床羊水标本进行检测，同时与传统染色体核型分析比较，以评价其临床应用价值。结果建立的FISH法检．蒯结果稳定，在145例临床羊水标本中，成功检测出21-三体标本2例。与核型分析比较，FISH法的敏感度为66．67％（2／3），特异度为100．00％（142／142），阳性预测值为100．OO％（2／2），阴性预测值为99．30％（142／143），耗时较核型分析法大大缩短。结论FISH法可快速、灵敏、特异地检测胎儿染色体异常，可作为孕妇产前诊断的快速检测方法。Objective To establish a rapid method in detecting chromosomal abnormalities of fetus in clinical amniotic fluid samples to assist prenatal diagnosis. Methods Using fluorescent in situ hybridization （FISH） with different fluoresceins la- belled the five chromosomes that could easily induce hereditary disease in clinical, chromosomal abnormalities were rapidly detected and identified in 145 clinical amniotic fluid samples and compared with the conventional karyotype analysis. Then estimated the results of FISH method. Results The result of this method established in the research was stable. Two triso- my 21 samples were successfully detected positively in all 145 clinical amniotic fluid samples. Compared with the karyotype analysis,the sensitivity and the specificity of FISH were 66.67% （2/3） and 100. 00% （142/142） respectively. The positive predictive value was 100. 00% （2/2） and the negative predictive value was 99.30% （142/143） respectively. Conclusion Fluorescent in situ hybridization is a rapid, specific, highly sensitive technique for the detection chromosomal abnormalities of fetus and could rapidly diagnosis for pregnant women.

关 键 词：原位杂交 荧光 染色体异常 胎儿 快速检测 

分 类 号：R394-33[医药卫生—医学遗传学]