应用荧光原位杂交快速产前诊断唐氏综合征  

Rapid prenatal diagnosis of Down syndrome by fluorescence in situ hybridization

作　　者：吴韶清[1] 廖灿[1] 易翠兴[1] 李东至[1] 宋淑本[1] 胡舜妍[1] 周剑英[1] 

机构地区：[1]广州市妇婴医院优生围产研究所,510180

出　　处：《中国优生与遗传杂志》2005年第11期52-54,共3页Chinese Journal of Birth Health & Heredity

基　　金：广州市科技局重大攻关项目(200421-E0011)

摘　　要：目的 建立稳定的荧光原位杂交(fluorescence in situ hybridization,FISH)技术并用于唐氏综合征的产前诊断。方法 对126例孕17w-24w未培养羊水细胞进行FISH快速产前诊断,以培养羊水细胞常规G显带核型分析作为FISH检测结果 对照。结果 被检126例羊水未培养细胞均获得诊断结果,发现4例异常胎儿。3例为标准型唐氏综合征;另1例为嵌合体。 FISH检测与常规核型分析结果一致。结论 FISH用于唐氏综合征产前诊断具有快速、简便、所用样本量少的优势,结果准确 可靠,可达到产前诊断要求,有较大临床应用价值。Objective：To establish the steady method of using fluorescence in situ hybrition（FISH） for the detection of Down syndrome. Methods： Amniotic fluid samples were take frome 126 women at 17 - 24 weeks of pregnancy;interphase FISH was performed for diagnosis Down syndrome. Then the G banding karyotypes from standard cytogenetic analysis after cultured amniotic fluid cells were compared to the FISH resuits. Results： Each of the 126 uncultured amniotic fluid samples tested with FISH was enumerated 200 nuclei. 123 samples were normal. 4 samples were found to have Down syndrome. Three are standard Down syndrome with three signal in all 200 nuclei, the other is a mosaic trisomy 21. Conclusion： Interphase FISH analysis of uncultured amnintic fluid cells is a rapid , accurate and very sensitive method. It could be used in the pretanal eytogenetic laboratory.

关 键 词：荧光原位杂交 唐氏综合征 G显带 羊水细胞 

分 类 号：R715[医药卫生—妇产科学]