国产探针用于羊水胎儿细胞染色体FISH检测的影响因素分析及对策

Several experiences during experimental operation of the fetal chromosome examination derived from amniotic fluid with FISH

目的探讨FISH技术用于羊水胎儿细胞染色体检查实验中遇到的问题和解决办法及实验中的体会。方法应用国产的探针(CSP18/CSPX/CSPY探针组和GLP13/GLP21探针组)对116例羊水中的细胞进行检测,从而判断胎儿13、18、21、X和Y染色体的数目有无异常。结果预实验中15例羊水标本检测失败,通过摸索实验条件后,有100例羊水的FISH检测成功。与染色体核型分析的结果相比较,准确率为99%。一例不符合的羊水胎儿染色体核型为46,XY,Yqh+。结论通过100多例羊水FISH实验的摸索,列出几点在实验中的心得体会,不断完善国产探针的实验条件,从而使实验的成功率和准确率都得到稳固和提高。

Objective：To investigate the problems and solutions and the experience of the experiment by FISH technique for chromosome examination of fetal cells in amniotic fluid.Methods：Using domestic probe （CSP18/CSPX/CSPY and GLP13/GLP21 probe group） to detect the cells which get from amniotic fluid of 116 samples,and then to diagnose whether the number of fetal＇s chromosome for 13,18,21,X and Y was abnormal or not.Results：15 cases of amniotic fluid samples were failed in pre-experiment.100 cases were detected successfully by FISH when experimental conditions were altered.Compared with karyotype analysis,the accuracy rate of results was 99%.One case was not meet the conditions of this experiment.The karyotype was 46,XY,Yqh＋.Conclusion：Through detecting more than 100 cases of amniotic fluid by FISH,a few points of experience in the experiment are listed for constantly improving the experimental conditions of domestic probe and thereby to improve the achievement and accuracy rate of the experiment.