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荧光原位杂交技术在胎儿染色体异常产前诊断中的应用
引用本文:傅文婷,潘小英,尹爱华,卢健,郭莉,吴菁.荧光原位杂交技术在胎儿染色体异常产前诊断中的应用[J].中国优生与遗传杂志,2011(9):41-42,F0002.
作者姓名:傅文婷  潘小英  尹爱华  卢健  郭莉  吴菁
作者单位:广东省妇幼保健院;广东省妇女儿童医院产前诊断中心;
摘    要:目的探讨荧光原位杂交(FISH)技术在检测胎儿染色体异常的临床应用。方法选用13、21、18、X、Y特异性探针对1128例孕16~22周有产前诊断指征的妊娠妇女羊水间期细胞进行分析,并与同时进行的羊水细胞培养核型分析结果进行对照。结果被检1128例羊水间期细胞FISH检测均成功,其中检出正常核型1081例,数目异常核型20例,与常规细胞染色体核型分析结果一致,另外27例结构异常FISH技术未能检出。结论 FISH技术检测胎儿染色体数目异常具有快速、简便、准确性高、特异性强等优点,有较大的临床应用价值,并对产前细胞遗传学诊断有重要意义。

关 键 词:荧光原位杂交  产前诊断  羊水间期细胞  染色体异常

Clinical assessment of fluorescence in situ hybridization for prenatal diagnosis of chromosomal abnormalities.
FU Wen-ting,PAN Xiao-ying,YIN Ai-hua,et al..Clinical assessment of fluorescence in situ hybridization for prenatal diagnosis of chromosomal abnormalities.[J].Chinese Journal of Birth Health & Heredity,2011(9):41-42,F0002.
Authors:FU Wen-ting  PAN Xiao-ying  YIN Ai-hua  
Institution:FU Wen-ting,PAN Xiao-ying,YIN Ai-hua,et al.(Prenatal Diagnosis Center of GuangDong Women and Children Hospital,510010)
Abstract:Objective: To analyze the clinical application of fluorescence in situhybridization(FISH) on the prenatal diagnosis of chromosomal abnormalities. Methods: To assay,the prenatal diagnosis of chromosome aneuploidies by FISH analysis of chromosome-specific probes(Chromosome 13,21,18,X,Y) in interphase amniocytes of 1128 pregnant women of 16-22weeks of gestational age,comparing with the assay of with control group which the amniotic cell chromosome karyotyping.Results: All the 1128 cases had been successfully d...
Keywords:Fluorescence in situ hybridization  Pregnatal diagnosis  Interphase amniocytes  Chromosomal numerical aberration  
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