荧光原位杂交技术在产前诊断中的应用价值

Application value of fluorescence in situ hybridization for prenatal diagnosis

目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在产前诊断中应用价值。方法对2009年11月至2012年8月在华中科技大学同济医学院附属同济医院进行产前诊断的1148例孕妇,利用FISH技术对羊水间期核细胞进行染色体数目检测。结果 1148例孕妇中确诊胎儿为21-三体综合征28例;18-三体综合征7例;13-三体综合征2例;45,XO(特纳综合征)1例;47,XXY1例;47,XYY1例;共检测出染色体数目异常患儿40例。结论 FISH技术应用于产前诊断染色体数目异常,成功率及准确率较高,结果可靠。

Objective To evaluate application value of fluorescence in situ hybridization for prenatal diagnosis. Methods 1148 cases of pregnant women in TongJi Hospital Affiliated to Tongji Medical College of Huazhong University of Sci- ence and Technology were taken amniotie fluid for FISH technology on interphase nuclear cell chromosome number detec- tion between November 2009 and August 2012. Results 1148 eases of pregnant were diagnosed with fetal trisomy 21- syndrome in 28 eases ; 18-trisomy syndrome in 7 cases ; 13-trisomy syndrome in 2 eases ;45, XO （ Tuner＇ s syndrome） in 1 case ;47, XXY and 47, XYY in 1 case respctively ;40 cases of children with chromosomal abnormalities were detected to- tally. Conclusion FISH is a rapid and accurate method for prenatal diagnosis of chromosome aneuploidies.