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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 investigate the value of home-made human chromosome 21-specific FISH staining in the diagnosis of Down Syndrome in prenatal AIH. Methods: The uninoculated amniotic fluid cells of pregnant women who were successfully pregnant at 16-26 weeks of gestation with AIH were fluorescently in situ hybridized with the prepared human chromosome 21-specific DNA-coated probe. At the same time, routine cell culture and chromosome nuclear Type analysis, and compare the results of the two test methods. Results: Self-made probe FISH results were within 24 h out of the results, detected in 2 cases of children, including 1 case of trisomy 21, 1 case of X trisomy. Self-made human chromosome 21-specific DNA-coated probes on un-cultured amniotic fluid chromosome 21 chromosome coincidence rate of 99.42%, chromosome karyotype analysis of 47, FISH results in patients with no abnormalities XXX. Test results and chromosome karyotype analysis and follow-up line. CONCLUSION: FISH technique of human chromosome 21-specific DNA-coating probe has the advantages of fast and accurate, and it can diagnose the time much earlier and has good value in prenatal screening of Down’s syndrome in AIH successful pregnant women.