[1]吴玥丽,赵晖,赵玲,等.染色体核型分析和荧光原位杂交技术用于产前诊断的价值[J].郑州大学学报(医学版),2015,(01):131.
 WU Yueli,ZHAO Hui,ZHAO Ling,et al.Prenatal diagnostic value of chromosomal karyotype analysis and fluorescence in situ hybridization[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2015,(01):131.
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染色体核型分析和荧光原位杂交技术用于产前诊断的价值
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2015年01期
页码:
131
栏目:
应用研究
出版日期:
2015-01-20

文章信息/Info

Title:
Prenatal diagnostic value of chromosomal karyotype analysis and fluorescence in situ hybridization
作者:
吴玥丽赵晖赵玲周桃珍贾莉婷#
郑州大学第三附属医院检验科 郑州 450052
Author(s):
WU Yueli ZHAO Hui ZHAO Ling ZHOU Taozhen JIA Liting
Clinical Laboratory, the Third Affiliated Hospital, Zhengzhou University, Zhengzhou 450052
关键词:
产前诊断染色体核型分析荧光原位杂交羊水细胞
Keywords:
prenatal diagnosis chromosomal karyotype analysis fluorescence in situ hybridization amniotic fluid cell
分类号:
R714.55
摘要:
摘要目的:应用染色体核型分析和荧光原位杂交(FISH)技术对2 708例孕妇的羊水细胞进行检测,探讨两种方法用于产前诊断的临床意义。方法:对2 708例有产前诊断指征的孕妇行羊膜腔穿刺术,获得羊水细胞分别进行细胞培养、染色体核型分析及FISH检测(FISH选取13、18、21、X、Y五条染色体特异性探针杂交)。结果:2 708例羊水细胞染色体核型分析培养失败3例,成功率99.9%。2 705例培养成功样本中检出染色体多态39例(1.4%);检出染色体异常核型105例(3.9%),其中染色体非整倍体异常82例,染色体结构异常23例。FISH检测成功率100%。共检出13、18、21、X、Y染色体非整倍体异常82例,性染色体嵌合2例,与染色体核型分析结果相符,1例嵌合型20号染色体三体未能检出,染色体结构异常及多态性均未检出。结论:染色体核型分析可检出全部染色体数目及结构异常,但对孕周要求较为严格、需要样本量大、诊断周期长、易培养失败、分辨率有限;FISH技术对孕周无严格要求,需要样本量小,可直接对未培养羊水细胞进行检测,快速、简便,但目前仅能检出有限的几条染色体数目异常,尚不能检出染色体平衡性结构改变如平衡易位、倒位、染色体多态等。
Abstract:
AbstractAim: To evaluate the prenatal diagnosis value of chromosomal karyotyping analysis and fluorescence in situ hybridization(FISH) performed to detect the amniotic fluid cells from 2 708 cases. Methods: Amniocentesis, amniotic fluid cell culture, chromosomal karyotype analysis and FISH detection were carried out in 2 708 cases of pregnancy women with prenatal diagnosis indication. Five chromosomespecific probes(chromosome 13, 18, 21, X, Y) were used in interphase FISH. Results: The success rate of chromosomal karyotype analysis was 99.9%(2 705/2 708) and 3 failed in amniotic cell culture. Among the 2 705 cases,39 cases(1.4%) of chromosomal polymorphism were identified,and 105 cases(3.9%) of chromosomal abnormalities were identified. Among all of the disorders, we found 82 cases of chromosomal aneuploid abnormalities and 23 cases of structural abnormalities.The success rate of FISH was 100%. A total of 82 cases of chromosome abnormalities were detected by FISH, which were consistent with chromosomal karyotype analysis,while chromosomal polymorphism and structural rearrangement were failed to be detected. Conclusion: Chromosomal karyotype analysis could detect all kinds of chromosomal abnormalities including not only aneuploid but also structural rearrangement, but it is limited by strict gestational week requirements and requires more sample capacity, meanwhile cell culture and karyotype analysis would lead to a long interval before diagnosis and there may be failures in cell culture, and it is limited in resolution moreover. FISH technology could be performed without strict gestational week requirements, requires small quantity of samples, uncultured amniotic fluid cells could be detected directly. It is a fast and convenient detection technology but limited by only several chromosomal aneuploid abnormalities could be detected at present, and chromosomal structural abnormalities such as balanced translocations, inversions and chromosomal polymorphism could not be detected.

参考文献/References:

参考文献 [1]刘权章.人类染色体方法学[M].北京:人民卫生出版社,1992. [2]Zhang L,Zhang XH,Liang MY,et al.Prenatal cytogenetic diagnosis study of 2782 cases of highrisk pregnant women[J].Chin Med J (Engl),2010,123(4):423 [3]Han SH,An JW,Jeong GY,et al.Clinical and cytogenetic findings on 31,615 midtrimester amniocenteses[J].Korean J Lab Med,2008,28(5):378 [4]孙立娟,李岩,张秀玲,等.3800例羊水细胞染色体核型分析及相关遗传咨询[J].国际妇产科学杂志,2011,38(1):68 [5]吴玥丽,赵晖,赵玲,等.923例胎儿羊水细胞染色体核型结果分析[J].中国妇幼保健,2014,29(1):122 [6]Weise A,Liehr T.Fluorescence in situ hybridization for prenatal screening of chromosomal aneuploidies[J].Expert Rev Mol Diagn,2008,8(4):355 [7]Toutain J,Epiney M,Begorre M,et al.Firsttrimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies[J].Eur J Obstet Gynecol Reprod Biol,2010,149(2):143 [8]Thilaganathan B,Sairam S,Ballard T,et al.Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation[J].BJOG,2000,107(2):262 [9]吴玥丽,赵晖,贾莉婷,等.孕妇产前羊水细胞染色体非整倍体异常的荧光原位杂交诊断[J].郑州大学学报:医学版,2011,46(2):272 [10]Witters I,Devriendt K,Legius E,et al.Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)[J].Prenat Diagn,2002,22(1):29 [11]Locatelli A,Mariani S,Ciriello E,et al.Role of FISH on uncultured amniocytes for the diagnosis of aneuploidies in the presence of fetal anomalies[J].Fetal Diagn Ther,2004,20(1):1 [12]贾莉婷,邢金芳,吴玥丽,等.荧光原位杂交法分析自然流产胚胎染色体异常的临床意义[J].中华检验医学杂志,2011,34(12):1158

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备注/Memo

备注/Memo:
#通信作者,女,1958年11月生,本科,教授,研究方向:临床免疫学诊断,E-mail:jialt@163.com
更新日期/Last Update: 1900-01-01