摘要
目的:探讨应用自制的人21号全染色体特异DNA涂染探针FISH技术在AIH产前诊断唐氏综合征的应用价值。方法:对经AIH治疗成功受孕的妊娠16～26周孕妇抽取的未培养羊水细胞采用已制备的人21号全染色体特异DNA涂染探针进行荧光原位杂交,同时进行常规细胞培养及染色体核型分析,并比较两种检测方法的结果。结果:自制探针FISH检测均于24 h内出结果,检测出患儿2例,其中1例为标准21三体,1例为X三体。自制的人21号全染色体特异DNA涂染探针对未培养的羊水细胞核21号染色体的符合率高达99.42%,染色体核型分析为47,XXX的患者FISH结果未见异常。检测结果与染色体核型分析及随访相符。结论:人21号全染色体特异DNA涂染探针FISH技术具有快速、准确的优势,大大提早诊断时间,应用于AIH成功受孕高危孕妇的产前筛查唐氏综合征中具有良好的应用价值。
Objective： To explore the application value of fluorescence in situ hybridization （FISH） by using self - designed human whole chromosome 21 special DNA probe for prenatal diagnosis of Down＇s syndrome after artificial insemination by husband （AIH） . Methods： FISH of uncultured amniotic fluid cells abstracted from pregnant women of 16 -26 gestational weeks after AIH treatment was performed with self-designed human whole chromosome 21 special DNA probe, routine cell culture and chromosomal karyotype analysis were conducted at the same time, and the results of the two methods were compared. Results： The result of FISH was obtained within 24 hours, one child with trisomy 21 and one child with triple X syndrome were found. The coincidence rate of self - designed human whole chromosome 21 special DNA probe for detection of chromosome 21 in uncultured amniotie fluid cells was as high as 99.42%, no abnormal FISH result was found in the patients whose chromosomal karyotype was 47, XXX. The detection results were identical with the results of chromosomal karyotype analysis and follow - up. Conclusion： FISH technique with self - designed human whole chromosome 21 special DNA probe has the advantages of speediness and accuracy, which can quicken the diagnostic time, FISH technique has good application value for the high risk pregnant women after successful AIH in the prenatal diagnosis of Down＇s syndrome.
出处
《中国妇幼保健》
CAS
北大核心
2012年第8期1192-1194,共3页
Maternal and Child Health Care of China
基金
广西卫生厅自筹基金项目[20100901 z2010032(2010年)]
