荧光原位杂交技术产前诊断唐氏综合征  

Prenatal diagnosis for Down syndrome by FISH.

作　　者：吴爱华 孟金萍 张爱东 李叔平 衣敏 

机构地区：[1]山东省计划生育科学技术研究所遗传优生研究室,250002

出　　处：《中国优生与遗传杂志》2005年第5期33-34,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的　应用荧光原位杂交(fluorescenceinsituhybridization ,FISH)技术,简便、快速、准确产前诊断唐氏综合征。方法　采用染色体特殊位点的特异性探针(LSI2 1)对30例羊水细胞和6例绒毛细胞标本进行未培养间期细胞荧光原位杂交。结果　检测出2 1三体儿1例,2 1三体和二倍体的嵌合体1例。检测结果与染色体核型分析及随访相符。结论　FISH技术应用于未培养间期细胞产前诊断唐氏综合征,可使诊断时间提早到孕5 0～70d ,并且具有简便、快速、准确、灵敏度高、特异性强的独特优势。Objective:To perform the prenatal diagnosis for Down syndrome by using FISH. Methods:Uncultured interphase cells including 30 cases of amniotic fluid cell and 6 cases of villous tissue were performed FISH by using specific probe (LSI21) of special site on chromosome. Results: 1 case of 21 trisomy and 1 case of mosaicism of 21 trisomy and diploid were detected. The result was accordant with the chromosome karyotype analysis and the follow-up survey. Conclusion: The prenatal diagnosis for Down syndrome by FISH with uncultured interphase cells can advance the diagnosis time to 50～70 days of pregnancy with the advantage of convenience, rapidness, accuracy, high sensitiveness and specification.

关 键 词：荧光原住杂交 间期细胞 唐氏综合征 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]