唐氏综合征的无创产前诊断研究进展

被引:7
作者
郭奇伟
周裕林
机构
[1] 厦门市妇幼保健院产前诊断中心分子诊断实验室
关键词
唐氏综合征; 无创产前诊断; 胎儿细胞; 胎儿游离DNA; 胎儿游离RNA;
D O I
10.13404/j.cnki.cjbhh.2010.04.026
中图分类号
R714.55 [胎儿遗传性疾病的产前诊断];
学科分类号
摘要
唐氏综合征是最常见的染色体非整倍体遗传病,该病尚无有效治疗手段,出生干预是预防该病的有效措施。传统的产前筛查与产前诊断均具有一定的缺陷,无创产前诊断是未来发展的趋势。本文从母血胎儿细胞、母血胎儿游离DNA、母血胎儿游离RNA三个角度对目前唐氏综合征的无创产前诊断研究作一综述,以期对相关领域的研究发展有所帮助。
引用
收藏
页码:137 / 139
页数:3
相关论文
共 8 条
  • [1] A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study[J] . Ravinder Dhallan,Xin Guo,Sarah Emche,Marian Damewood,Philip Bayliss,Michael Cronin,Julie Barry,Jordan Betz,Kara Franz,Katie Gold,Brett Vallecillo,John Varney.The Lancet . 2007 (9560)
  • [2] Down Syndrome Screening in the First and Second Trimesters: What Do the Data Show?[J] . Todd Rosen,Mary E. D’Alton.Seminars in Perinatology . 2005 (6)
  • [3] First Trimester Down Syndrome Screening: Public Health Implications[J] . Karin M. Fuchs,Jeffrey F. Peipert.Seminars in Perinatology . 2005 (4)
  • [4] Rapid clearance of fetal DNA from maternal plasma
    Lo, YMD
    Zhang, J
    Leung, TN
    Lau, TK
    Chang, AMZ
    Hjelm, NM
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) : 218 - 224
  • [5] Fetal cell identifiers: Results of microscope slide–based immunocytochemical studies as a function of gestational age and abnormality[J] . Yun-Ling Zheng,Dong Kai Zhen,Antonio Farina,Stanley M. Berry,Ronald J. Wapner,John M. Williams,Diana W. Bianchi.American Journal of Obstetrics and Gynecology . 1999 (5)
  • [6] Presence of fetal DNA in maternal plasma and serum
    Lo, YMD
    Corbetta, N
    Chamberlain, PF
    Rai, V
    Sargent, IL
    Redman, CWG
    Wainscoat, JS
    [J]. LANCET, 1997, 350 (9076) : 485 - 487
  • [7] Search for the optimal fetal cell antibody: results of immunophenotyping studies using flow cytometry[J] . Yun-Ling Zheng,Dong Kai Zhen,Mary Ann DeMaria,Stanley M. Berry,Ronald J. Wapner,Mark I. Evans,Diane Copeland,John M. Williams,D. W. Bianchi.Human Genetics . 1997 (1)
  • [8] Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Lo YMD,Lun FMF,Chan KCA, et al. Proceedings of the National Academy of Sciences of the United States of America . 2007