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无创产前检测胎儿21-三体的研究进展

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摘要 21-三体综合征是一种较常见的新生儿染色体异常疾病．其发病主要是由于患者比正常人多出现了一条21号染色体而造成。随着母体外周血中胎儿有核红细胞、游离胎儿DNA、游离胎儿RNA等不同胎儿遗传物质的发现和基因分析方法的进步．为无创产前筛查和诊断提供了新的途径．开创了无创产前检测胎儿21-三体的一个新时代．本文就目前无创产前检测胎儿21-三体的研究方向、方法途径及其临床应用前景进行归纳和综述。
作者 贾兴元 张学 贾婵维
机构地区 首都医科大学附属北京朝阳医院医学研究中心 中国医学科学院北京协和医学院基础医学院医学遗传室 首都医科大学附属北京妇产医院遗传室
出处 《诊断学理论与实践》 2013年第4期474-477,共4页 Journal of Diagnostics Concepts & Practice
基金 北京市自然科学基金(7092034) 首都医学发展科研基金(2009-3130)
关键词 21-三体综合征 产前检测 无创检测
分类号 R394-33 [医药卫生—医学遗传学]
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参考文献37

  • 1戚庆炜,孙念怙.产前唐氏综合征筛查概论[J].实用妇产科杂志,2008,24(1):4-7. 被引量：73
  • 2Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy[J]. N Engl J Med,2009,360(24): 2556-2562.
  • 3边旭明,戚庆炜.我国产前细胞遗传学诊断的现状与对策[J].中华妇产科杂志,2011,46(9):641-643. 被引量：14
  • 4Mujezinovic F, Alfirevic Z. Procedure-related complica- tions of amniocentesis and chorionic villous sampling: a systematic review[J]. Obstet Gynecol,2007,110(3):687-694.
  • 5Walknowska J, Conte FA, Grumbach MM. Practical and theoretical implications of fetal-maternal lymphocyte transfer[J]. Lancet, 1969,1 (7606): 1119-1122.
  • 6Bianchi DW, Zickwolf GK, Weil GJ, et al. Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum[J]. Proc Natl Acad Sci U S A,1996,93(2): 705-708.
  • 7Henderson KG, Shaw TE, Barrett IJ, et al. Distribution of mosaieism in human placentae[J]. Hum Genet,1996,97(5): 650-654.
  • 8Price JO, Elias S, Wachtel SS, et al. Prenatal diagnosis with fetal cells isolated from maternal blood by multipa- rameter flow cytometry[J]. Am J Obstet Gynecol,1991,165(6 Pt 1):1731-1737.
  • 9Huang Z, Fong CY, Gauthaman K, et al. Novel approaches to manipulating foetal cells in the maternal circulation for non-invasive prenatal diagnosis of the unborn child[J]. J Cell Biochem,2011,112(6):1475-1485.
  • 10Ganshirt-Ahlert D, Pohlschmidt M, Gal A, et al. Ratio of fetal to maternal DNA is less than 1 in 5000 at different gestational ages in maternal blood[J]. Clin Genet,1990,38 (1):38-43.

二级参考文献19

  • 1Ng EK, Tsui NB, Lain NY, et al. Presence of filterable and nonfilterable mRNA in the plasma of cancer patients and healthy individuals[J]. ClinChem, 2002, 48 (8) :1212-1217.
  • 2Chiu IRW, Lui WB, Cheung MC, et al. Time profile of appearance and disappearanee of circulating placenta-derived mRNA in maternal plasma[J]. Clin Chem, 2006, 52(2) : 313 -316.
  • 3Farinal A, Sekizawa A, Purwosunu Y, et al. Quantitative distribution of a panel of circulating mRNA in preeclampsia versus' controls[ J]. Prenat Diagn ,2006,26 : 1115-1120.
  • 4Purwosunu Y, Sekizawa A, Farina A, et al. Cell-free mRNA concentrations of CRH, PLACl, and selectin-P are increased in the plasma of pregnant women with preeelampsia [J]. Prenat Diagn ,2007,27 : 772-774.
  • 5Go A, Visser A, Mulders M, et al. C21ORF105 ,a chromosome 21-encoded mRNA, is not a discriminative marker gene for prediction of Down syndrome in maternal plasma[ J ]. Prenat Diagn,2007,27 : 146-149.
  • 6Ng EK, Tsui NB, Lau TK, et al. mRNA of placental origin is readily detectable in maternal plasma [ J]. PNAS, 2003, 100 (8) :4748-4753.
  • 7Tsui NB, Chim SS, Chiu RW, et al. Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling[ J]. J Med Genet, 2004, 41 (6): 461-467.
  • 8Oudejans CB, Go AT, Visser A, et al. Detection of chromosome 21-encoded mRNA of placental origin in maternal plasma[ J ]. Clin Chem,2003.,49(9) : 1445-1449.
  • 9Roizen N J, Patterson D. Down's syndrome[ J]. Lancet, 2003, 361:1281-1289.
  • 10Fiona MFL, Nancy BY, Tsui KC, et al. Noninvasive prenatal diagnosis of monogenicdiseases by digital size selection and relative mutation dosage on DNA in maternal plasma[ J ]. PNAS, 2008,105 : 19920-19925.

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诊断学理论与实践
2013年 第4期

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