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无创DNA检测技术在常州市产前筛查中的应用 被引量：12

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摘要 目的探讨无创DNA产前检查(NIPT)在胎儿染色体非整倍体疾病诊断中的应用价值。方法选取2 237例接受唐氏筛查的孕妇,对其外周血中游离胎儿DNA进行测序分析,阳性者进行羊水穿刺及染色体核型分析;阴性者行电话随访。结果 (1)无创DNA检测结果为阳性者共23例,包括21-三体15例、18-三体4例、13-三体1例,性染色体异常3例。(2)23例结果异常的孕妇,22例进行了羊水穿刺及染色体核型分析。结果显示无创DNA检测技术的检出率为100%,准确率86.4%。结论 NIPT对孕妇外周血中游离胎儿DNA的检测准确率达86.4%,其高准确性、无创伤性等优点将使其成为未来产前筛查的主力手段。
作者 缪婷婷 张晓青 周琴 虞斌 张玢 黄瑞萍 王秋伟
机构地区 常州市妇幼保健院产前诊断中心实验
出处 《中华临床医师杂志（电子版）》 CAS 2015年第10期193-195,共3页 Chinese Journal of Clinicians(Electronic Edition)
关键词 唐氏综合征 产前诊断 染色体 胎儿游离DNA 羊水穿刺
分类号 R714.5 [医药卫生—妇产科学]
  • 相关文献

参考文献9

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二级参考文献36

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共引文献54

同被引文献95

  • 1杨湘玲,朱健生,刘贤云.新型无创DNA产前检测在诊断胎儿染色体非整倍体疾病中的应用[J].中国产前诊断杂志（电子版）,2013,5(2):15-17. 被引量：20
  • 2汤冬玲,周新,李霞,郑芳,刘松梅,郭清莲.母体血循环中胎儿游离DNA的检测[J].中华检验医学杂志,2006,29(12):1120-1122. 被引量：7
  • 3李胜利.中国超声产前诊断的现状与发展展望[J].中国医疗器械信息,2007,13(3):1-4. 被引量：7
  • 4Lo YM, Corbetta N, Chamberlain PF, et al.Presence of fetal DNA in maternal plasma and serum[J].Lancet, 1997, 350:485-487.
  • 5Lo YM, Tein MS, I.au TK, et al.Quantitative analysis of fetalDNA in maternal plasma and serum :implications fornoninvasive prenatal diagnosis[J].In J Hum Genet, 1998, 62:768-775.
  • 6Chiu RW, Chan KC, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma[J]. Proc Nail Acad Sci U S A, 2008,105:20458-20463.
  • 7Clausen FB, Christiansen M, Steffensen R, et al.Report of the first nationally implemented clinical routine screening for fetal RHD in D-pregnant women to ascertain the requirement forantenatal RhD prophylaxis[J].Transfusion, 2012, 52:752-758.
  • 8Hill M, Finning K, Martin P, et al. Non-invasive prenatal determination of fetal sex :translating research into clinicalpractice[J]. Clin Genet, 2011.80:68-75.
  • 9Lewis C, Hill M.Skirton H, et al.Fetal sex determination using cell- free fetal DNA :service users experiences of and preferences for service delivery[J]. Prenat Diagn, 2012,32:735- 741.
  • 10Devaney SA, Palomaki GE, Scott JA, et al.Noninvasive fetal sex determination using cell-free fetal DNA :a systematic review and meta-analysis[J].JAMA, 2011,306:627-636.

引证文献12

二级引证文献118

中华临床医师杂志（电子版）
2015年 第10期

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