产前超声在胎儿染色体异常筛查中的临床价值  

The clinical signficance of ultrasound in prenatal diagnosis of chromosome abnomality

作　　者：马思思[1] 叶风[1] 陈蓉蓉[1] 陈利民[1] 

机构地区：[1]温州医学院定理临床学院温州市第二人民医院超声科,浙江温州325060

出　　处：《中国优生与遗传杂志》2012年第2期50-51,74,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨产前超声在胎儿染色体异常筛查中的临床价值。方法 2008.1～2011.3孕期在我中心行羊水及脐血穿刺3702例病例,诊断染色体核型异常221例,221例孕妇中至少产前在我院接受过1次超声检查者共37例,其中21-三体儿19例,18-三体儿5例,13-三体儿2例,45-XO儿11例。孕妇年龄21～40岁,接受超声检查平均孕周17+～25+周,对其超声声像图进行回顾性分析。结果本研究37例胎儿,除了8例21-三体儿超声表现未见异常外,另外29例超声均提示至少一个或一个人以上的染色体软指标或结构异常。结论不同类型的染色体异常有不同的结构畸形谱,了解并掌握不同类型染色体异常各自特定的畸形谱声像图,可以发挥产前超声在胎儿染色体异常筛查中的临床价值。Objective： To assess the signficance of ultrasound in prenatal diagnosis of chromosome abnomality. Methods： From January 2008 to March 2011, data about 3702 pregnant women and 221 fetuses with chromosome banomalities fetuses （221/3702） were analyzed. The study groups consisted of 19 fetuses with trisomy 21, 5 fetuses with trisomy 18, 2 fetuses with trisomy 13, 11 fetuses with Turner syndrome. In the retrospective study, we evaluated 221 fetuses with gestational age between 17 -25 weeks and preg- nant women age between 21to 40 years old. Results： At least one or more than one abnormal fetal sonograms were detected in 29 fetuses except 8 fetuses. Conclusion： Chromosomeabnormality have remarkablesonographicsigns. Antenatal ultrasound screening plays an important role in prenatal diagnosis of chromosomal abnomalities.

关 键 词：胎儿 产前超声 染色体异常 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]