中华医学超声杂志(电子版)2010年6月第7卷第6期ChinJMedUltrasound(ElectronicEdition),June2010,Vol7,No.6·967··临床研究·唐氏综合征胎儿遗传学超声指标分析陈琮瑛李胜利文华轩欧阳淑媛毕静茹叶巧美廖玉媚【摘要】目的分析唐氏综合征(DS)胎儿各项遗传学超声指标发生情况及超声特征,拟在中孕期通过遗传学超声检测各项指标来提高DS的产前筛查率。方法通过对42例染色体核型分析证实为21三体DS胎儿的产前、产后超声声像图进行研究分析各项遗传学超声指标。结果42例DS胎儿中有88.1%(37/42)单独或合并存在结构畸形、鼻骨发育不良、颈项透明层或颈褶增厚、第5指中节指骨发育不良、股骨肱骨短、肾盂分离、心室点状强回声、草鞋足等遗传学超声指标。结论中孕期遗传学超声检测各项遗传学超声指标是提高DS胎儿产前筛查的一个有效措施。【关键词】唐氏综合征;胎儿;遗传学超声AnalysisofgeneticsonogrammarkersforfetuswithDownsyndromeCHENCongying,LIShengli,WENHuaxuan,OUYANGShuyuan,BIJingru,YEQiaomei,LIAOYumei.DepartmentofUltrasound,ShenzhenMaternity&ChildHealthcareHospitalAffiliatedtoSouthernMedicalUniversity,Shenzhen518028,ChinaCorrespondingauthor:LIShengli,Email:lishengli63@126.com【Abstract】ObjectiveToanalyzeallkindsofgeneticsonogrammarkersforfetuswithDownsyndrome(DS)andtoincreasescreeningrateforfetuswithDSusinggeneticsonogrammarkersduringthesecondtrimester.MethodsTheprenatalandpostnatalsonographicfindingsof42casesoffetuswithDSdiagnosedastrisomy21bykaryotypingwereretrospectivelyevaluated.ResultsEightyeightpointonepercent(37/42)ofDSfetuswithoneorseveralsonogrammarkers,whichincludedanymajorabnormality,nasalbonehypolasia,hypoplasiaofthemiddlephalanxofthefifthdigit,thickenednuchaltranslucencyorfold,shortfemurandhumerus,pyelectasis,echogenicintracardiacfocus,hyperechoicbowl,sandalgaptoe,etc.ConclusionTheevaluationofallkindsofsonogrammarkerswillbeusefulforprenatalscreeninginfetuswithDSduringthesecondtrimester.【Keywords】Downsyndrome;Fetus;GeneticultrasonographyDOI:10.3877/cma.j.issn.16726448.2010.06.012基金项目:国家“十一五”科技支撑计划(2006BAI05A04);深圳市医学科研基金(JH200507130970A)作者单位:518028深圳,南方医科大学附属深圳市妇幼保健院超声科通讯作者:李胜利,Ema...