广西地区荧光原位杂交技术在快速诊断胎儿染色体数目异常中的应用

Rapid detection for number abnormality of fetus chromosomes by fluorescence in situ hybridization technique in guangxi province

目的使用荧光原位杂交(FISH)技术对广西地区胎儿染色体数目异常进行快速检测并评估其临床应用价值。方法采用FISH技术对758例未培养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。结果成功检测758例标本,检出正常核型747例,异常核型11例(其中21-三体7例,18-三体1例,13-三体1例,XYY 2例),所有结果与染色体核型分析一致。结论 FISH检测简便、快速、准确性高、特异性强,对协助临床咨询及产前遗传学诊断具有重要意义,值得推广应用。

Objective ： To study the rapid prenatal diagnos is of chromosome number abnormality by fluorescence in situ hybridization （FISH） and its application value in gnangxi province. Methods： 758 amniotic fluid samples without cultivation were inspected with FISH, whose results were compared with that of applying chromosome karyotype analysis. Results： The 758 samples tested with FISH was enumerated. Normal chromosome number was observed in ？47cases. Eleven samples were found to have abnormal chromosomes （seven were the Down＇s syndrome and one was Edward syndrome and one was Patau syndrome and two were XYY syndrome）. All of the result of FISH in according with chromosome karyotypes. Conclusion ： FISH is an easy, rapid, accurate and special method. It is significant to assist clinic consulation and prenatal diagnosis, and worth to popularize and apply widely.