期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

快速非整倍体胎儿产前诊断技术

在线阅读 下载PDF
导出
摘要 染色体病是因染色体数目、结构畸变造成遗传物质得失所引起的遗传性疾病，目前的医疗水平难以治疗或无法治疗，因此产前诊断尤为重要。我国大规模开展的产前诊断手段主要是细胞遗传学染色体核型分析，所培养的羊水细胞和绒毛细胞核型分析的精确度分别为99．4％～99．8％和97．5％～99．6％．
作者 禹虹 边旭明
机构地区 中国医学科学院北京协和医学院北京协和医院妇产科
出处 《协和医学杂志》 2010年第1期98-102,共5页 Medical Journal of Peking Union Medical College Hospital
关键词 产前诊断 快速非整倍体检测技术 荧光原位杂交技术 荧光定量聚合酶链反应
分类号 R715.5 [医药卫生—妇产科学]
  • 相关文献

参考文献24

  • 1徐爱群,边旭明.荧光原位杂交技术用于快速产前诊断临床评价[J].国际妇产科学杂志,2009,36(3):172-177. 被引量：6
  • 2王晨虹,周璐,李胜利,袁晖.荧光原位杂交与核型分析技术产前诊断非整倍体的对比研究[J].现代妇产科进展,2009,18(3):201-204. 被引量：7
  • 3鲍如蓉,朱宝生,苏洁,唐新华.唐氏综合征快速产前诊断方法的研究[J].黔南民族医专学报,2009,22(1):18-22. 被引量：1
  • 4周大文,许淼,颜景斌,任兆瑞.应用MLPA-微阵列技术分析基因组内拷贝数变异的初步探讨[J].现代诊断与治疗,2008,19(2):98-102. 被引量：5
  • 5Shaffer LG,Bui TH.Molecular cytogenetic and rapid aneu-ploidy detection methods in prenatal diagnosis. American Journal of Medical Genetics . 2007
  • 6Ballif BC,RoremE,Sundin K,etal.Detecting of lowlevel mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet Part A . 2006
  • 7Vermeesch JB,Fiegler H,Leeuw N,et al.Guidelines for molecular karytyping in constitutional genetic diagnosis. European Journal of Human Genetics . 2007
  • 8Schrijver I,Cherny SC,Zehnder JL.Testing for maternal cell contamination in prenatal samples a comprehensive sur-vey of current diagnostic practices in35molecular diagnostic laboratories. The Journal of Molecular Diagnostics . 2007
  • 9Van D,Boter OM,de Jongl D,etal.Rapid aneuploidy de-tection with multiplex ligation-dependent probe amplification:a prospective study of4000amniotic fluid samples. European Journal of Human Genetics . 2009
  • 10Fan HC,Blumenfeld YJ,EI-Sayed YY,et al.Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneu-ploidy. American Journal of Obstetrics and Gynecology . 2009

二级参考文献45

  • 1Cremer T, Landegent J, Bruckner A, et al. Detection of chromosome aberrations in metaphase and interphase tumor cells in situ hybridization using chromosome specific library probes [ J ]. Hum Genet, 1986,74 : 346-352
  • 2Klinger K, Landes G, Shook D, et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescencein situ hybridization (FISH) [ J ]. Am J Hum Genet, 1992,51:55-65
  • 3Ward BE, Gersen SL, Carelli MP, et al. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization ;clinical experience with 4,500 specimens [J]. Am J Hum Genet, 1993,52:854-865
  • 4Witters 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,2002,22:29-33
  • 5Caine A, Mahby AE, Parkin CA, et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13,18,and 21 by FISH or PCR without a full karyotype; a cytogenetic risk assessment [ J ]. Lancet, 2005,366 : 123-128
  • 6Breuning MH. From chromosomes to DNA, a revolution in prenatal diagnosis[J]. Eur J Hum Genet, 2005, 13(5 ):517-522.
  • 7Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis [J].Am J Med Genet C Semin Med Genet, 2007, 145C( 1 ):87-98.
  • 8Leung WC, Lau ET, Lao T, et al. Rapid aneuploidy screening (FISH or QF-PCR ): the changing scene in prenatal diagnosis? [J ]. Expert Rev Mol Diagn, 2004, 4(3):333-337.
  • 9Tepperberg J, Pettenati M J, Rao PN, et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-years multicenter retrospective study and review of the literature [J ]. Prenat Diagn, 2001, 21 (4):293-301.
  • 10Caine A, Mahby AE, Parkin CA, et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chrnmosomes 13, 18, and 21 by FISH or PCR without a full karotype: a cytogenetic risk assessment[J]. Lancet, 2005, 366(9480): 123-128.

共引文献14

协和医学杂志
2010年 第1期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部