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Down综合征产前检查 被引量：1

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摘要 Down综合征(DS),译为唐氏综合征,其临床表现典型,主要为智力发育迟缓、张力低下、小头畸形、宽眼距、低鼻梁、四肢短小、通贯掌、伸舌及吊眼稍(眼角上斜)等,是智力低下最常见的原因,又名先天愚型.其发病率随人种和地区有差异,约为1/1 000～1/600.我国近年由于计划生育政策的实施,高龄产妇减少,发病率由50～70年代的1.3‰降至近十余年的0.7‰ [1].DS的发病原因是患者细胞内多一条21号染色体.已知21染色体长臂二区二带是引起异常表型的决定性部位.此外有作者提出此病可能与放射线及化学物质等致畸变物质有关.
作者 商敏 马彦彦
机构地区 北京大学第一医院妇产科
出处 《中国妇产科临床杂志》 2002年第3期185-188,共4页 Chinese Journal of Clinical Obstetrics and Gynecology
关键词 产前检查 母血 检出率 DS 血清筛查 羊膜腔穿刺术 胎儿细胞 血清标记物 Down 综合征 综合病症
分类号 R714.5 [医药卫生—妇产科学]
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参考文献21

  • 1金帆,陈玉兰,吴莉莉,王晓华.近十余年先天愚型儿出生频率及其产前诊断效率探讨[J].中国优生与遗传杂志,1996,4(4):24-25. 被引量：7
  • 2[2]Palomaki GE, Knight GJ, McCarthy JE, et al. Maternal serum screening for Down syndrome in the United States: A 1995 survey. AmJ Obstet Gynecol, 1997, 176: 1046-1051
  • 3[3]Huderer Duric K, Skrablin S, Kuvacic I, et al. The triple- marker test in predicting fetal aneuploidy: a compromise between sensitivity and specificity. Eur J Obstet Gynecol Reprod boil, 2000, 88: 49- 55
  • 4[4]WaldNJ, GeorgeL, SmithD, etal. Serum screening for Down syndrome between 8 and14 weeks of pregnancy. International Prenatal Screening Research Group. BrJ Obstet Gynecol, 1996, 103:407-412
  • 5[5]Haddow JE, Palomaki GE, Knight GJ, et al. Screening of maternal serum for fetal Down's syndrome in the first trimester. New Engl J Med, 1998,338:955-961
  • 6[6]Extermann P, Bischof P, Marguerat P, et al. Second - trimester maternal serum screening for Down's syndrome: free beta-human cborionic gonadotrophin (hCG) and alpha- fetoprotein, with or without unconjugated oestriol, compared with total HCG, alpha- fetoprotein and nuconjugated oestriol. Hum-Reprod, 1998, 13: 220-223
  • 7[7]Drugan A, Johnson MP, Evans MI. Ultrasound screening for fetal chromosome anomalies. Am J Med Cenet, 2000, 17; 90:98 - 107
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二级参考文献2

共引文献7

同被引文献15

  • 1卞晓燕,黄中.唐氏综合征与氧化应激[J].国外医学（儿科学分册）,2003,30(6):310-312. 被引量：3
  • 2周林峰,路白杨,贺爱军,王琳琳,霍莹.唐氏综合征产前筛查与诊断的研究[J].中国妇幼保健,2005,20(14):1728-1729. 被引量：47
  • 3Stetler RA, Gao Y, Signore AP, et al. HSP27: mechanisms of cellular protection against neuronal injury. Curr Mol Med, 2009, 9:863-872.
  • 4Friedman MJ, Li S, Li XJ. Activation of gene transcription by heat shock protein 27 may contribute to its neuronal protection. J Biol Chem, 2009, 284:27944-27951.
  • 5Wyttenbach A, Sauvageot O, Carmichael J, et al. Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin. Hum Mol Genet, 2002, 11:1137-1151.
  • 6Shukkur EA, Shimohata A, Akagi T, et al. Mitochondrial dysfunction and tau hyperphosphorylation in TslCje, a mouse model for Down syndrome. Hum Mol Genet, 2006, 15:2752- 2762.
  • 7Mkrtchian S, Sandalova T. ERp29, an unusual redox-inactive member of the thioredoxin family. Antioxid Redox Signal, 2006, 8:325-337.
  • 8Wang X, Phelan SA, Forsman-Semb K, et al. Mice with targeted mutation of peroxiredoxin 6 develop normally but are susceptible to oxidative stress. J Biol Chem, 2003, 278:25179-25190.
  • 9Wald NJ, Hackshaw AK. Combinin ultrasound and biochemistry in first trimester screening for Down syndrome. Prenat Diagn, 1997,17:821-829.
  • 10Hsieh TY, Hsu JJ, Cheng PJ, et al. Total hCG versus free β-hCG combined with alpha-fetopretein for Down syndrome screening in Taiwan. Taiwan Residents J Obstet Gynecol, 2007, 46:230-235.

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中国妇产科临床杂志
2002年 第3期

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