应用荧光原位杂交技术对50例羊水标本产前诊断的研究

汪广杰; 张晓莉; 罗阳; 陈庆海; 府伟灵

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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

论著 | 更新时间：2025-01-15

- 应用荧光原位杂交技术对50例羊水标本产前诊断的研究
- Prenatal diagnosis for chromosome aneuploidies in 50 amniotic fluid samples with fluorescence in situ hybridization
- 陆军军医大学学报 2009年31卷第8期页码：729-732
- 作者机构：
  
  第三军医大学西南医院检验科
- 作者简介：
- 基金信息：
- DOI：
  中图分类号： R714.5;R446.9
- 纸质出版日期：2009，
  
  网络出版日期：2009-04-30，
- 稿件说明：
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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, 2009,31(8):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]. Journal of army medical university, 2009, 31(8): 729-732.
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, 2009,31(8):729-732. DOI：

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]. Journal of army medical university, 2009, 31(8): 729-732. DOI：

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

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 interp

hase 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.

关键词

荧光原位杂交羊水间期细胞产前诊断

Keywords

fluorescence in situ hybridizationinterphase amniocyteprenatal diagnosis

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