期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

无创产前基因检测在4168例产前筛查高风险孕妇中的应用 被引量：2

下载PDF
导出
摘要 目的:评估无创产前基因检测(noninvasive prenatal testing,NIPT)在胎儿染色体非整倍体筛查与诊断中的应用价值。方法2012年8月~2014年2月在湖南省妇幼保健院产前诊断中心就诊的孕早期或中期生化筛查高风险(21原三体风险≥1/270,18原三体风险≥1/350)的4168例孕妇,对其进行NIPT,检测结果为高风险者进行传统的胎儿核型分析确认,检测结果为低风险者随访妊娠结局。结果4168例孕妇中,NIPT高风险59例,有52例做了传统的胎儿核型分析,21-三体和18-三体符合率100%(32/32),13-三体符合率0(0/1),性染色体异常符合率31.58%(6/19)。4109例低风险孕妇随访到4000例,其中B超检查发现胎儿结构异常13例,引产12例。未发现21或18-三体出生。结论 NIPT对21-三体和18-三体检测具有较高的敏感性和特异性;作为二线筛查方法用于妊娠早期或妊娠中期筛查阳性病例,可减少98%由于筛查假阳性而造成的不必要的侵入性产前诊断操作。
作者 谢琼 席惠 王丹 贾政军 唐华 胡蓉 王华
机构地区 湖南省妇幼保健院
出处 《医学信息（医学与计算机应用）》 2014年第32期99-100,共2页 Medical Information
基金 2014年度湖南省医药卫生科研计划项目(课题编号B2014-093)。
关键词 无创产前基因检测 产前筛查 高风险 染色体非整倍体 侵入性产前诊断
分类号 R71 [医药卫生—妇产科学]
  • 相关文献

参考文献6

二级参考文献77

  • 1ACOG Practice Bulletin. Screening for fetal chromosomal abnormalities.Obstet Gynecol,2007,109:217-227.
  • 2Nakata N,Wang Y,Bhatt S.Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age.Prenat Diagn,2010,30:198-206.
  • 3Gross SJ,Bajaj K,Garry D,et al.Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes.Prenat Diagn,2011,31:259-266.
  • 4ACOG Committee Opinion. Array comparative genomic hybridization in prenatal diagnosis.Obstet Gynecol,2009,114:1161-1163.
  • 5Wald NJ, Rodeck C, Hackshaw AK, et al. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). JMed Screen ,2003,10:56-104.
  • 6Wald N J, Rodeck C, Hackshaw AK, et al. SURUSS in perspective. BJOG,2004, 111:521-531.
  • 7Malone FD, Canick JA, Ball RH, et al. First-trimester or second- trimester screening, or both, for Down's syndrome. N Engl J Med, 2005, 353:2001-2011.
  • 8Wapner R, Thorn E, Simpson JL, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med, 2003, 349:1405-1413.
  • 9Nieolaides KH, Spencer K, Avgidou K, et al. Multicenter study of first-trimester screening for trisomy 2L in 75 821 pregnancies: results and estimation of the potential impaet of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gyneco1,2005, 25:221-226.
  • 10Merkatz IR, Nitowsky HM, Macri JN, et al. An association between low materual serum alpha-fetoprotein and fetal chromosome abnormalities. Am J Obstet Gynecol,198d, 148:886-894.

共引文献170

同被引文献21

  • 1邱洁,杨晓华,方虹,张红云,马竞,陈熙,吴琼玲.血清学筛查联合胎儿非整倍体产前无创基因检测临床应用价值的研究[J].中国产前诊断杂志（电子版）,2013,5(2):18-21. 被引量：7
  • 2Bouchlariotou S,Tsikouras P,Dimitraki M,et al. Turner's syndrome and pregnancy: has the 45,X/47, XXX mosai cism a di{ferent prognosis? Own clinical experience and literature review[J]. J Matern Fetal Neonatal Meal,2011, 24 (5) : 668-672.
  • 3Leggett V,Jacobs P, Nation K, et al. Neurocognitive out comes of individuals with a sex chromosome trisomy: XXX,XYY, or XXY: a systematic review[J]. Dev Med Child Neurol,2010,52(2) :119-129.
  • 4Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum]-J]. Lancet, 1997,350(76) :485-487.
  • 5Nicolaides KH, Syngelaki A, Gil M, et al. Validation of targeted sequencing of single nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chro mosomes 13,18,2I,X,and Y[JT. Prenat Diagn,2013,33 (6) :575 579.
  • 6Haraldsdottir KR, Gottfredsdottir H, Geirsson RT. Fetal loss after amniocentesis and chorionic villus sampling in Iceland[J]. Laeknabladid, 2014,100(3) : 147-151.
  • 7Enzensberger C, Pulvermacher C, Degenhard J, et al. Fetal loss rate and associated risk factors after amniocentesis, chorionic villus sampling and fetal blood sampling[J]. UI traschall Med,2012,33(7) :E75 79.
  • 8Mersy E, Smits LJ, van Winden LA, et al. Noninvasive de- tection of fetal trisomy 21 : systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012[J]. Hum Reprod Up- date,2013,19(4) :318-329.
  • 9Hui L,Teoh M,da Silva Costa F,et al. Clinical implemen tation of cell-free DNA based aneuploidy screening., per spectives from a national audit[J]. Ultrasound Obstet Gy necol,2015,45(1) : 10-15.
  • 10Palomaki GE,Deciu C,Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and tri- somy 13 as well as Down syndrome: aninternational col- laborative study[J]. Genet Med, 2012,14(3) : 296-305.

引证文献2

二级引证文献34

医学信息（医学与计算机应用）
2014年 第32期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部