荧光原位杂交技术在未培养羊水细胞产前诊断中的临床应用  

Evaluation of fluorescence in situ hybridization in prenatal diagnosis of uncultured amniotic fluid cells

作　　者：吴莉[1] 钟进[1] 陈志华[1] 郭晓玲[1] 邓秀珍[1] 邓露莎[1] 

机构地区：[1]佛山市妇幼保健院妇产科,广东佛山528000

出　　处：《中国优生与遗传杂志》2012年第11期41-43,共3页Chinese Journal of Birth Health & Heredity

基　　金：广东省佛山市卫生局课题;项目编号2012160

摘　　要：目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在产前诊断中的优缺点及临床应用价值。方法用FISH技术检测163例孕17-33周孕妇的未培养羊水细胞,每例均行常规染色体核型分析。结果应用FISH法,所有样本均在24h内获得检测结果,除4例羊水培养失败外,其余样本均在3周内获得细胞遗传学诊断。两种方法均检测出3例非整倍体,FISH结果与核型分析结果一致。9例染色体结构异常,FISH法未能检出。结论 FISH技术应用于产前诊断染色体非整倍体,成功率高,准确可靠,较常规核型分析方法有效缩短报告时间。FISH不能完全替代常规染色体核型分析,疑有染色体结构异常者,必须行羊水细胞染色体核型分析。母血清唐氏征筛查异常孕妇产前诊断倾向选择FISH检测。Objective： To evaluate clinical application value of fluorescence in situ hybridization. Methods： Amniotic fluid sam- ples were taken from 163 women at 17 ＋4 - 33＋1 weeks of pregnancy; FISH was performed for diagnosing aneuploidies of five chromo- somes （ 13, 18, 21, X and Y）. The routine karyotypes analysis was performed at the same time. Results ： The FISH diagnosis of all species was achieved in 24h, while 161 chromosome karyotypes diagnosis acquired in 3 weeks, since failed cell culture occurred in 2 amniotic fluid cases. 3 aneuploidies found by FISH and chromosome karyotypes. For the two methods, the diagnosis of aneuploidies matched perfectly. 9 Structural abnormalitic of chromosome were missed by FISH. Conclusion： FISH is a rapid and accurate method for prenatal diagnosis of chromosome aneuploidies, but it can＇t completely replace the conventional chromosome karyotype analysis. If structural abnormalities of chromosome was suspected to be, Amniotic fluid cell cultures and karyotype analysis must be performed. FISH could be choiced when biochemical data for Down＇s syndrome were positive.

关 键 词：荧光原位杂交 羊水未培养细胞 产前诊断 非整倍体 

分 类 号：R714.55[医药卫生—妇产科学]