荧光原位杂交技术在羊水间期细胞产前诊断中的应用  

Application of fluorescence in situ hybridization technique in prenatal diagnosis of amniotic fluid cells

作　　者：李超强[1] 黎丽芬[2] 朱凯欣[2] 吴亚敏[1] 

机构地区：[1]中山大学附属东华医院生殖中心,广东东莞523110 [2]中山大学附属东华医院检验科,广东东莞523110

出　　处：《国际检验医学杂志》2015年第2期221-222,224,共3页International Journal of Laboratory Medicine

摘　　要：目的探讨荧光原位杂交（FISH）技术在产前诊断中的应用价值。方法采集1 189名孕18~24周孕妇的羊水标本,用染色体GLP13/21探针和CSP18/X/Y探针对未培养的羊水细胞进行FISH检测,并与羊水细胞染色体核型结果比较。结果 1 189例羊水标本1 175例培养成功,检出41例染色体异常,35例染色体多态性。1 189例羊水标本FISH杂交均成功,检出29例异常标本,另有6例结果不能判定。29例FISH结果异常中除1例因羊水培养失败无染色体核型对比外,其余与染色体核型结果一致。6例结果不能判定中5例因母血污染影响X、Y信号判断。结论产前FISH检测法在诊断5种染色体数目异常中有较高的应用价值,但存在检测假阳性和范围局限性,不建议作为单独检测方法用于染色体异常的产前诊断。Objective To analyze the value of fluorescence in situ hybridization （FISH） in prenatal diagnosis of amniotic fluid cells. Methods 1 189 amniotic fluid specimens were collected from women with pregnancy18 to 24 weeks, chromosome probe GLP13/21 and CSP18/X/Y were used in the FISH detection,and the results were compared with the result of chromosome Karyo- type. Results A total of 1 175 amniotic fluid specimens in 1 189 patients were cultivated successfully,41 cases with abnormal chro- mosome,35 cases with chromosome polymorphism. FISH detection of all the 1 189 patients were successful,checked out 29 cases of abnormal specimens,and 6 specimens could not be judge. Except for 1 case in the 29 cases with FISH abnormal results for amniotic fluid cultivating failure, the FISH results of other 28 cases were consistent with the chromosome Karyotype. There were 5 cases with mother blood pollution in 6 undetermined cases was difficult to judge X and Y signals. Conclusion FISH technology has high- er application value in prenatal diagnosis,but it is not recommended to use it as a separate method in prenatal diagnosis of chromo- some abnormality due to the defects of detection range limitation and a false positive result.

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]