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31例唐氏综合征患儿的产前筛查情况分析 被引量:2

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摘要 目的探讨导致唐氏综合征(Down′s syndrome,DS)患儿出生的原因。方法对31例确诊DS儿其母亲孕期唐氏筛查情况进行回顾性分析。结果 22例DS患儿中孕期未行唐氏筛查22例、高龄孕妇4例及唐筛高风险2例未行羊水诊断、唐筛低风险1例、临界风险2例。将孕期母亲是否进行唐氏筛查与DS儿出生进行差异性分析,两组间比较差异有统计学意义(P<0.05)。结论孕期开展唐氏征筛查是预防DS儿出生的有效措施,结合超声检查及无创DNA检测等技术手段可以提高DS儿的检出率,达到优生目的。
出处 《中国优生与遗传杂志》 2016年第5期62-63,21,共3页 Chinese Journal of Birth Health & Heredity
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  • 1Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet, 1997, 350: 485-487.
  • 2Wright CF, Burton H. The use of cell-free fetal nucleic acids in matemal blood for non-invasive prenatal diagnosis. Hum Reprod Update, 2009,15:139-151.
  • 3Le YM, Tein MS, Lau TK, et al. Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum:Implications for Noninvasive Prenatal Diagnosis. Am J Hum Genet, 1998,62:768-775.
  • 4Horinek A, Korabeena M, Panczak A, et al. Cell-free fetal DNA in maternal plasma during physiological single male pregnancies: methodology issues and kinetics. Fetal Diagn Ther, 2008,24: 15-21.
  • 5Hill M, Lewis C, Jenkins L, et al. Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin Biol Ther, 2012, Suppl 1 :Sl19- 126.
  • 6Hill M, Finning K, Martin P, et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet, 2011,80:68-75.
  • 7Lun FM, Chiu RW, Alien Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem,2008, 54 : 1664-1672.
  • 8Chan KE, Zhang JH,Wong N ,et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem ,2004,50:88-92.
  • 9Hung EC, Chiu RW, Lo YM. Detection of circulating fetal nucleic acids : a review of methods and applications. J Clin Pathol, 2009,62 : 308 -313.
  • 10Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing :large scale validity study. BMJ,2011,342, C7401.

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