Xiao Hong-mei, Tan Yue-qiu, Li Lu-yun, Lu Guang-xiu
Reproduction and Genetics Hospital of CITIC-XIANGYA, Institute of Reproduction and Stem Cell Engineering Xiangya School of Medicine, Central South University, Changsha, Hunan, 410078 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Dec;21(6):608-10.
To evaluate the feasibility of using fluorescence in situ hybridization(FISH) for the detection of a few common chromosome aneuploidies on interphase nuclei of uncultured amniotic fluid cells.
Amniotic fluid samples were taken from 55 women at 16-32 weeks of pregnancy; interphase FISH was performed for diagnosing Down syndrome and aneuploidies of other four chromosomes 13, 18, X and Y. Then the karyotypes from standard cytogenetic analysis after percutaneous umbilical blood sampling(PUBS) were compared to the FISH results.
Each of the 55 uncultured amniotic fluid samples tested with FISH was enumerated 200 nuclei. Fifty-three samples were normal. Two samples were found to have trisomy 21(one is a case of standard trisomy 21 with three signals in all 200 nuclei, the other is a mosaic trisomy 21).
Interphase FISH analysis of uncultured amniotic fluid cells is a rapid, accurate and very sensitive method. It could be used in the prenatal cytogenetic laboratory.
评估使用荧光原位杂交（FISH）技术检测未培养羊水细胞间期核中几种常见染色体非整倍体的可行性。
收集55例孕16 - 32周孕妇的羊水样本；采用间期FISH技术诊断唐氏综合征及其他四条染色体（13、18、X和Y）的非整倍体情况。然后将经皮脐血采样（PUBS）后标准细胞遗传学分析的核型结果与FISH结果进行比较。
对55例未培养羊水样本进行FISH检测，每个样本计数200个核。53个样本正常。2个样本发现21三体（1例为标准型21三体，200个核均有三个信号；另1例为嵌合型21三体）。
未培养羊水细胞间期FISH分析是一种快速、准确且非常敏感的方法。可用于产前细胞遗传学实验室。
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