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《胎儿常见染色体病产前筛查的研究进展》由会员上传分享，免费在线阅读，更多相关内容在工程资料-天天文库。
1、［摘要］染色体病是影响出生人口素质的重要因素，也是围生儿死亡的主要原因之一，是目前我们所关注及需要解决的一个重大公共卫生问题。常见的染色体疾病包括唐氏综合征、爱德华综合征、帕陶综合征，这些染色体疾病占全部染色体病的80%〜90%,临床中尤以唐氏综合征最为常见。而产前筛查是对胎儿染色体疾病干预的有效手段，是出生缺陷干预二级预防中的重要手段，为了最大限度地减少染色体病患儿的出生，提高出生人口素质，产前筛查在不断地完善与发展，极大地提高了胎儿染色体疾病的检出率,产前筛查包括血清学筛查、超声筛查、无创DNA产前检测。［关键词］染色体病；产前筛查；血清学筛查；超［中图分类号］R714.5［文献
2、标识码］A［文章编号］声筛查;无创DNA产前检测1673-7210(2016)09(c)-0063-04[Abstract]Chromosomediseaseisanimportantfactorthataffectsthebirthpopulationqualityandalsoisoneoftheleadingcausesofperinataldeaths,whichismajorpublichealthproblemforustopaycloseattentiontoandsolve・Commonchromosomaldisorderswhichaccountsforeight
3、ypercenttoninetypercentofthetotalchromosomaldisordersincludeDownsyndrome,Edwardsyndrome,Patausyndrome,amongwhich,Downsyndromeisthemostcommoninclinic.Prenatalscreeningisaneffectivemethodforinterventionoffetalchromosomaldisease,whichisalsoanimportanttechniqueinthesecondarypreventionofbirthdefects
4、intervention.Inordertominimizethechildrenwhohasthechromosomediseasewasbornandimprovethebirthpopulationquality,prenatalscreeningisconstantlyimprovinganddeveloping,andgreatlyimprovethedetectionrateoffetalchromosomaldisease.Prenatalscreeningincludesserologicalscreening,ultrasoundscreening,non-inva
5、siveprenataldetectionofDNA・[Keywords]Chromosomedisease；Prenatalscreening；Serologicalscreening；Ultrasoundscreening；NoninvasiveprenataldetectionofDNA染色体疾病是染色体数目和结构异常所引起的疾病，据估计染色体异常占新生儿的1/200〜1/150[1],majorpublichealthproblemforustopaycloseattentiontoandsolve・Commonchromosomaldisorderswhichaccount
6、sforeightypercenttoninetypercentofthetotalchromosomaldisordersincludeDownsyndrome,Edwardsyndrome,Patausyndrome,amongwhich,Downsyndromeisthemostcommoninclinic.Prenatalscreeningisaneffectivemethodforinterventionoffetalchromosomaldisease,whichisalsoanimportanttechniqueinthesecondarypreventionofbir
7、thdefectsintervention.Inordertominimizethechildrenwhohasthechromosomediseasewasbornandimprovethebirthpopulationquality,prenatalscreeningisconstantlyimprovinganddeveloping,andgreatlyimprovethedetectionrateoffetalchromosomaldisease.
