快速无创性产前诊断唐氏综合征的初步研究  

Rapid noninvasive prenatal diagnostic of Down's syndrome

作　　者：相文佩[1] 水丽君[1] 温子娜[1] 徐晓燕[2] 

机构地区：[1]华中科技大学同济医学院计划生育研究所/生殖医学中心 [2]华中科技大学同济医学院附属同济医院妇产科,430030

出　　处：《中国优生与遗传杂志》2010年第5期37-39,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的建立快速无创性产前诊断唐氏综合征的有效诊断模式。方法从98名孕妇中筛选出12名高度怀疑唐氏妊娠者,当日流式细胞术分选母血中的胎儿有核红细胞(Fetal nucleated red blood cells,FNRBCs),制备滴片后,次日进行多重引物原位杂交(muti-primed in situ labeling,multi-PRINS)检测胎儿细胞21号、Y染色体。结果均可在两日内得到诊断结论 ,诊断10例正常胎儿和两例男性唐氏综合征胎儿,与实际胎儿核型完全一致。结论流式分选母血中胎儿有核红细胞后多重PRINS技术检测细胞染色体可作为快速无创性产前诊断的有效模式,并可为其他非整倍体异常和单基因病的快速无创性产前诊断提供有效参考。Objective： To establish a rapid and effective noninvasive prenatal diagnostic model of Down＇s syndrome. Methods： 12 women with high - risk of Down＇s syndrome pregnancy were chosen from 98 pregnant women. Blood samples were collected and FNRBCs were enriched by flow cytometry immediately. Multi - PRINS was applied to detect the Y chromosome and 21 chromosomes the next day. Results： Diagnostic conclusions can be made in two days. 10 cases of normal fetuses and 2 male fetuses with Down＇s syndrome were diagnosed. All the results were consistent with the actual fetal chromosomal karyotypes. Conclusion： Flow cytometry combined with multi -PRINS was found to be effective to do rapid noninvasive prenatal diagnosis of fetal Down＇s Syndrome and may provide reference for prenatal diagnosis of other fetal chromosomal or gene abnormalities and intrauterine infection.

关 键 词：胎儿有核红细胞 流式细胞术 多重引物原位杂交 唐氏综合征 

分 类 号：R714.55[医药卫生—妇产科学]