FISH技术在产前诊断中应用及检测结果分析

目的探讨国产探针在产前诊断临床应用的可行性,对荧光原位杂交（FISH）技术检测结果的准确性进行分析。方法采用FISH技术对107例未培养羊水标本及8例培养失败的羊水标本进行染色体数目异常的检测,采用染色体核型分析技术作为对照。结果采集的107例羊水标本中,培养成功99例,成功率为92.5%;培养未成功的8例均行脐带血核型分析,结果核型正常。107例孕妇中,检测出6例胎儿染色体核型异常,其中1例为结构异常;107例未培养羊水标本FISH检测成功106例,成功率99.1%,检测出5例异常。8例羊水培养失败标本再行FISH,成功7例,成功率87.5%,所得结果与染色体核型分析结果均相符。FISH检测目标染色体的结果与染色体核型分析结果相符率为100%。结论国产探针在产前诊断临床应用中是可行的;目前FISH检测方法应与染色体核型分析法互相结合做出准确的检测结果。FISH技术应用于产前诊断不仅可以加快产前诊断的速度,而且可以延长胎儿羊水染色体检查在产前诊断中的时间窗。

Study on the clinical application of FISH in prenatal diagnosis and analysis of its results

Objective To explore the feasibility of the clinical application of domestic produced probe and analyze the achievement ratio of diagnosis result with FISH.Methods 107 amniotic fluid samples without cultivation and 8 samples which were failed in cultivation were inspected with FISH,whose results were compared with that of applying chromosome karyotype analysis.Results 99 samples were successfully cultivated among 107 samples applying chromosome karyotype analysis and the achievement rate was 92.5%.8 samples which failed in cultivation were applied with cord blood karyotype analysis and the result was normal.6 abnormalities were diagonsed among 107 samples and 1 was structural abnormality.The achievement rate of FISH in 107 amniotic fluid without cultivation was 99.1%,and 5 abnormalities were diagnosed.7 samples was successfully diagnosed among 8 samples which failed in cultivation,the achievement rate was 87.5%.The diagnosis results with FISH were 100% matched with the result of chromosome karyotype analysis.Conclusion It was feasible for the domestic produced probe to be applied in clinic.The clinical application of FISH should be combined with chromosome karyotype analysis to promote the development of prenatal diagnosis technologies of our country.The clinical application of FISH in prenatal diagnosis could not only reduce the time of diagnosis but also extend the time gap before the chromosome examination of fetus' amniotic fluid.