[1]汪广杰,张晓莉,罗阳,等.应用荧光原位杂交技术对50例羊水标本产前诊断的研究[J].陆军军医大学学报(原第三军医大学学报),2009,31(08):729-732.
 WANG Guang-jie,ZHANG Xiao-li,LUO Yang,et al.Prenatal diagnosis for chromosome aneuploidies in 50 amniotic fluid samples with fluorescence in situ hybridization[J].J Amry Med Univ (J Third Mil Med Univ),2009,31(08):729-732.
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应用荧光原位杂交技术对50例羊水标本产前诊断的研究(/HTML )
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陆军军医大学学报(原第三军医大学学报)[ISSN:1000-5404/CN:51-1095/R]

卷:
31卷
期数:
2009年第08期
页码:
729-732
栏目:
论著
出版日期:
2009-04-30

文章信息/Info

Title:
Prenatal diagnosis for chromosome aneuploidies in 50 amniotic fluid samples with fluorescence in situ hybridization
作者:
汪广杰张晓莉罗阳陈庆海府伟灵
第三军医大学西南医院检验科
Author(s):
WANG Guang-jie ZHANG Xiao-li LUO Yang CHEN Qing-hai FU Wei-ling
Department of Laboratory Medicine, Southwest Hospital, Third Military Medical University, Chongqing 400038, China
关键词:
荧光原位杂交羊水间期细胞产前诊断
Keywords:
fluorescence in situ hybridization interphase amniocyte prenatal diagnosis
分类号:
R446.9;R714.5
文献标志码:
A
摘要:
目的    探讨荧光原位杂交技术诊断未培养羊水细胞非整倍体的临床应用价值。    方法    选用X、Y、13、18、21号特异性探针对50例有产前诊断指征的孕妇进行羊水间期细胞的FISH 分析及染色体核型分析。    结果    被检50 例羊水未培养细胞均获得诊断结果,检测出“21三体”3例,检测结果与染色体核型分析及随访相符。    结论    应用染色体特异性探针对羊水间期细胞进行FISH分析可用于胎儿染色体非整倍体的产前诊断,该方法具有快速、准确、灵敏度高的优点。
Abstract:
Objective    To evaluate the feasibility of using fluorescence in situ hybridization for the detection of a few common chromosome aneuploidies on interphase nuclei of uncultured amniotic fluid cells.     Methods    A total of 50 patients with indications of chromosome aneuploidies underwent amniocentesis or cordocentesis with karyotyping. Simultaneously, interphase FISH with X, Y, 13, 18 and 21 chromosome-specific probes was done on them.     Results    Each of the 50 uncultured amniotic fluid samples tested with FISH was enumerated 50 nuclei. Forty-seven samples were normal and three samples were found to have trisomy 21. The results were accordant with the chromosome karyotype analysis and the follow-up survey.     Conclusion    FISH analysis of chromosome-specific probes on interphase amniocytes can be used in the prenatal diagnosis of chromosome aneuploidies.  This is a rapid, accurate and very sensitive method and can be used in clinical diagnosis.

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[1]刘灵,杨再林,陈洁平,等.五联综合诊断技术对骨髓增生异常综合征诊断价值的临床研究[J].陆军军医大学学报(原第三军医大学学报),2014,36(11):1208.
 Liu Ling,Yang Zailin,Chen Jieping,et al.Diagnostic value of MICM classification for myelodysplastic syndrome: a clinical report of 248 patients[J].J Amry Med Univ (J Third Mil Med Univ),2014,36(08):1208.

更新日期/Last Update: 2009-04-15