介入性产前诊断在产前超声异常中应用.doc

介入性产前诊断在产前超声异常中应用【摘要】目的:探讨介入性产前诊断在产前超声中的应用。方法:本研究对123例产前超声异常胎儿的孕妇行介入性产前诊断,并对结局进行追踪随访。结果:产前超声诊断胎儿异常123例,包括先天性心脏病25例,中枢神经系统异常10例,消化系统异常7例,泌尿系统异常5例,肢体短小8例,颈部水囊瘤10例,单脐动脉10例,水肿胎19例,胎儿生长迟缓11例,多发异常25例,均行产前诊断,113例行染色体检查,发现异常染色体24例;19例水肿胎中13例为巴氏水肿胎。结论:产前超声异常与染色体异常及巴氏水肿胎有一定的相关性。【关键词】超声;胎儿;染色体 【中图分类号】R714.55 【文献标识码】B 【文章编号】1008-6455(2010)08-0369-02 The appliance of invasive prenatal diagnosis in the prenatal ultrasound abnormalities Huang Shufang?1 Li Ping?2 Liu Zhen?1 Ding Hong?1 【Abstract】Objective:To investigate the invasive prenatal diagnosis in prenatal ultrasound in the application. Methods:In this study of 123 abnormal cases of prenatal ultrasound had been made the fetal interventional prenatal diagnosis, and outcomes tracking follow-up. Results:123 cases of fetal abnormalities had been diagnosed, including congenital heart disease in 25 cases, 10 cases of central nervous system abnormalities, digestive system abnormalities in 7 cases, 5 cases of urinary tract abnormalities, short limbs in 8 cases, neck cystic tumor in 10 cases, single umbilical artery in 10 cases, 19 cases of fetal edema, fetal growth retardation in 11 cases, multiple abnormalities in 25 cases.All the cases had made the prenatal diagnosis.113 cases had been made chromosome examination. 24 cases of abnormal chromosomes; 19 cases of fetal edema in 13 cases of Pap fetal edema. Conclusion:Abnomal prenatal ultrasound findings,chromosomal abnormalities, and abnormal Pap fetal edema have some relevance. 【Key words】ultrasound;the fetus;chromosome 先天畸型种类繁多,表现各异,为围产儿死亡的重要原因。随着超声诊断技术的发展,产前超声检查出的胎儿异常越来越多,作为安全、无创性的筛查方法,对胎儿染色体及巴氏水肿胎筛查价值出越来越受到重视。本研究通过对123例产前超声发现胎儿异常的孕妇进行胎儿染色体检查或Hb电泳,并追踪随访,为进一步产前咨询及妊娠指导提供依据。 1 资料与方法 1.1 一般资料:2003年8月~2009年3月在我院产前超声检查发现各类先天异常123例,采集脐血或羊水进行染色体检查或Hb电泳。孕妇平均年龄28.4岁,最大41岁,最小20岁;平均孕周27.5周,最晚39周,最早15周。脐血检查109例,占88.6%;羊水检查14例,占11.4%。 1.2 方法: 1.2.1 地中海贫血电泳用REP电泳系统检测。判定标准Hb-Bart’s 脐带是胎儿与母体进行物质交换的主要途径。正常脐带内有两条脐动脉和一条脐静脉,单脐动脉(single umbilical artery, SUA)是指脐