| FISH在唐氏综合征产前诊断中的应用价值 |
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| 引用本文： | 陈必良,张建芳,赵海波,燕凤,宋晖,刘淑娟.FISH在唐氏综合征产前诊断中的应用价值[J].陕西医学杂志,2010,39(2):172-173,187. |
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| 作者姓名： | 陈必良 张建芳 赵海波 燕凤 宋晖 刘淑娟 |
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| 作者单位： | 第四军医大学西京医院妇产科,西安,710032 |
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| 摘 要： | 目的:探讨荧光原位杂交(FISH)技术在唐氏综合征产前诊断中的应用价值。方法:采用位点特异性探针(DSCR2)对40例羊水细胞和10例绒毛细胞标本进行未培养间期细胞FISH实验。结果:检测出患儿2例,其中1例为标准21三体,1例为嵌合体。检测结果与染色体核型分析及随访相符。结论:FISH技术应用于产前诊断唐氏综合征,具有快速、准确的优势,并且可使诊断时间提早到孕50～70d,在高危孕妇的产前筛查中具有良好的应用前景。
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| 关 键 词： | 唐氏综合征 产前诊断 @荧光原位杂交 |
Application value of FISH for prenatal diagnosis of Down's syndrome |
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| Institution: | Department of Gynaecology and Obstetrics, Xijing Hospital, the Fourth Military Medical University(Xi＇an 710032) Chen Biliang Zhang Jianfang Zhao Haibo et al |
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| Abstract: | Objective： To investigate the application value of fluorescence in situ hybridization （FISH） for the prenatal diagnosis of Down＇s syndrome. Methods ~Uncultured interphase cells including 40 cases of amniotic fluid cell and 10 cases of villous tissue were used. FISH was performed by using situs specific probe （DSCR2） on chromosome. Results.. Two cases were founded to have Down＇s syndrome. One case was standard 21 trisomy and the other is mosaicism. The result was accordant with the chromosome karyotype analysis and the follow-up survey. Conclusion： The prenatal diagnosis for Down syndrome by FISH is rapidness and accuracy. It can advance the diagnosis time to 50~70 days of pregnancy. So the application prospect of FISH in prenatal diagnosis is very sound. |
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| Keywords: | Down syndrome Prenatal diagnosis @FISH |
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