荧光原位杂交产前诊断染色体异常的临床应用

目的探讨荧光原位杂交（FISH）产前诊断染色体数目异常的临床应用价值。方法对327例产前诊断孕妇的羊水进行FISH检测和染色体核型分析,将二者结果进行对照。结果 FISH检测均获得诊断结果,发现4例异常胎儿。3例为21-三体,1例为18-三体。与核型分析比较,除核型中1例46,XY42]/47,XY,＋812]嵌合体外,其余样本结果二者均一致。结论 FISH技术能够快速准确检测染色体数目异常,有较大临床应用价值。与传统核型分析相结合,可提高产前诊断的准确性和成功率。

Clinical assessment of fluorescence in situ hybridization in prenatal diagnosis of chromosome abnormalities

Objective:To investigate the clinical efficacy of fluorescence in situ hybridization(FISH) in prenatal diagnosis of chromosomal aneuploidy.Methods:Amniotic fluid samples were take from 327 women of pregnancy.FISH and karyotyping analysis were done in 327 samples and the results were compared.Results:Interphase FISH experiments succeeded in all cases.The results of FISH were in conformity with those of cytogenetics in 326 cases,cluding 322 normal cases,3 cases of trisomy 21 and one case of trisomy 18.A case of mosaic 46,XY\/47,XY,+8\was considered as uninformative on the basis of FISH reporting criteria.Conclusion:FISH can detect the chromosomal aneuploidy quickly and accurately.It could be used in the prenatal cytogenetic laboratory.And it can improve the accuracy of prenatal diagnosis and the success rate with the combination of traditional karyotyping.