荧光原位杂交技术在母血清标记物异常诊断中的应用  

Application of fluorescence in situ hybridization in diagnosis of mother serum markers abnormality

作　　者：陈春[1,2,3] 邓洪新[1] 李运星[2,3] 魏萍[2,3] 曾兰[2,3] 秦胜芳[2,3] 伍志灵[2,3] 邓艺[2,3] 叶梦玲[2,3] 

机构地区：[1]四川大学华西医院生物治疗国家重点实验室,四川成都610041 [2]四川省妇幼保健院胎儿医学科 [3]省产前诊断中心,四川成都610045

出　　处：《中国优生与遗传杂志》2013年第6期45-46,69,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的应用荧光原位杂交技术对血清标记物产前筛查异常的孕妇进行产前诊断。方法用荧光原位杂交技术对78例羊水间期细胞做检测,以羊水细胞培养及核型分析作为结果验证。结果共检出21-三体两例,超雄综合征(47,XYY)一例,47,XYY/46,XY嵌合体核型一例,与羊水细胞核型分析结果完全相符。结论 FISH技术便捷、灵敏、快速、准确,可应用于血清标记物产前筛查异常孕妇的产前诊断,能补充传统细胞遗传学的不足,保证诊断结果,减少孕妇的等待时间。Objective：To use fluorescence in situ hybridization（FISH） in prenatal diagnosis of Pregnant women for them abnormal serum marker values.Methods：We used FISH to detect amniotic fluid cells samples from 78 prenatal woman,and proved the results by conventional cell culture for karyotyping.Results：2 cases of trisomy 21,a case of 47,XYY,a case of 47,XYY/46,XY chromosomal mosaic.It was concordant with the results from Karyotype analysis.Conclusion：FISH is a good technology with characteristics of convenient,rapid,sensitive and accurate.So it can be used in prenatal diagnosis,and supplement the deficiency of the traditional cytogenetics.

关 键 词：荧光原位杂交 产前筛查 产前诊断 羊水细胞 染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]