【摘要】 目的探讨FISH技术诊断流产组织、未培养羊水细胞染色体异常的临床应用价值。方法采用着丝粒、专一序列探针对流产绒毛组织、胎儿组织及产前诊断孕妇的羊水细胞进行FISH检测;并与常规细胞遗传学方法进行对比。结果 7例流产绒毛组织中FISH技术检测出5例染色体异常,分别是3例nuc ish 22q11×3,1例nuc ish 16q22×3,1例三倍体;2例流产胎儿组织中FISH技术未发现异常。孕中期产前诊断的156例孕妇,常规细胞遗传学方法发现3例胎儿染色体异常,分别为47,XX,+21 1例,46,XX,dup(?q21q22)1例,47,XXY 1例;FISH技术与常规细胞遗传学方法检测结果基本一致,在病例46,XX,dup(?q21q22)中,G显带400带水平进行染色体核型分析不能确定其21号染色体重复的确切区带,而FISH结果为nuc ish 21q22×3,证实探针杂交区域有重复。另1例孕晚期羊水FISH检测结果未见异常。结论 FISH技术在流产胚胎染色体检查及产前诊断中具有检测快速,操作简便,标本采集及取材时间不受限等优势,目前FISH技术也存在探针位点有限及无法检测染色体结构异常等问题。更多还原

【Abstract】 Objective To evaluate the value of fluorescence in situ hybridization technology(FISH)for the diagnosis of chromosome abnormality in abortion tissue and prenatal diagnosis.Methods Chromosome probes were used to detect abortion tissue and prenatal samples.The results were compared with conventional cytogenetics.Results Among the 9abortion samples,5abnormal karyotypes were found,including three cases of nuc ish 22q11×3,one case of nuc ish 16q22×3,one case of triploid.Among the 156pregnant women,three fetuses with chromosome abnormality were diagnosed by conventional cytogenetics,the karyotypes were 47,XXY,and 47,XX,+21,46,XX,dup(? q21q22),which were accordant with the results of FISH.The case of 46,XX,dup(?q21q22)was detected by FISH and the result was nuc ish 21q22×3.One case of the third trimester amniotic fluid was detected by FISH and the result was normal.Conclusions FISH is rapid,accurate and easy to handle.However,it has targets limitations and can’t detect the chromosome structure abnormalitie.更多还原