荧光原位杂交技术对无创DNA产前检测阳性病例的诊断价值

张阳丽; 李荣; 赵纯全; 崔瑾; 詹茜; 白慧丽; 程伟; 张玉洪

doi:10.13406/j.cnki.cyxb.000920

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荧光原位杂交技术对无创DNA产前检测阳性病例的诊断价值

生殖系统疾病 | 更新时间：2024-01-17

- 荧光原位杂交技术对无创DNA产前检测阳性病例的诊断价值
- Prenatal diagnostic value of the fluorescence in situ hybridization in positive cases of noninvasive prenatal testing
- 重庆医科大学学报 2016年41卷第7期页码：685-689
- 作者机构：
  
  1. 重庆医科大学附属第一医院临床分子医学检测中心
  2. 重庆医科大学附属第一医院妇产科
- 作者简介：
- 基金信息：
  
  国家自然科学基金资助项目（编号:31501207）;重庆市教委科学技术研究基金资助项目（编号:KJ1500218）;渝中区基础与前沿科技基金资助项目（编号:20150114）
- DOI：10.13406/j.cnki.cyxb.000920
  中图分类号： R714.5
- 纸质出版日期：2016，
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[1]张阳丽,李荣,赵纯全,崔瑾,詹茜,白慧丽,程伟,张玉洪.荧光原位杂交技术对无创DNA产前检测阳性病例的诊断价值[J].重庆医科大学学报,2016,41(07):685-689.

Zhang Yangli, Li Rong, Zhao Chunquan, et al. Prenatal diagnostic value of the fluorescence in situ hybridization in positive cases of noninvasive prenatal testing[J]. Journal of Chongqing Medical University, 2016,41(7):685-689.
[1]张阳丽,李荣,赵纯全,崔瑾,詹茜,白慧丽,程伟,张玉洪.荧光原位杂交技术对无创DNA产前检测阳性病例的诊断价值[J].重庆医科大学学报,2016,41(07):685-689. DOI： 10.13406/j.cnki.cyxb.000920.

Zhang Yangli, Li Rong, Zhao Chunquan, et al. Prenatal diagnostic value of the fluorescence in situ hybridization in positive cases of noninvasive prenatal testing[J]. Journal of Chongqing Medical University, 2016,41(7):685-689. DOI： 10.13406/j.cnki.cyxb.000920.

摘要

目的:探讨荧光原位杂交检测技术（fluorescence in situ hybridization

FISH）对无创DNA产前检测（noninvasive prenatal testing

NIPT）阳性病例的诊断价值。方法:对22例NIPT阳性病例的未培养羊水利用FISH技术进行胎儿13、18、21、X和Y染色体数目的检测

同时将所有病例的羊水或脐血细胞培养行常规染色体G显带染色体核型分析。应用Kappa检验比较FISH和染色体核型分析检测结果的一致性并进行分析。结果:22例样本FISH检测结果中

18例检测出胎儿染色体非整倍体异常

包括13-三体2例、21-三体11例、18-三体1例、XXY/XY嵌合型1例、XXY型1例、XXXXY型1例、XYY型1例

余下4例未发现染色体数目异常。FISH检测结果与染色体核型分析结果一致性极强（κ=1）。结论:NIPT存在假阳性结果

阳性病例必须进行进一步产前诊断

FISH技术具有快速

简便

准确的技术特点

是快速确诊的有效手段。

Abstract

Objective:To study the prenatal diagnostic value of the fluorescence in situ hybridization(FISH)in positive cases of noninvasive prenatal testing(NIPT). Methods:The number of fetal 13

X and Y chromosomes in mniotic fluid samples from 22 of NIPT positive cases was detected by FISH

as well as using G banding karyotypes analysis after cell culture. The consistency between the results of the FISH and karyotypes was compared by means of Kappa test. Results:All samples of the 22 cases were successfully detected by FISH. The results showed 18 cases with fetal aneuploidy

including 2 cases of 13 trisomy

11 cases of 21 trisomy

1 cases of 18 trisomy

1 case of XXY/XY chimeric type

1 case of XXY

1 case of XXXXY and 1 case of XYY and 4 cases with normal number of fetal chromosome. The consistency between the results of FISH and karyotype was extremely strong(Kappa=1). Conclusion:NIPT needs further definite diagnosis due to its false positive result possibility. FISH is a simple

fast and efficient method for early prenatal diagnosis of NIPT positive cases.

关键词

荧光原位杂交无创DNA产前检测产前诊断染色体非整倍体

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