产前超声诊断胎儿脐膨出及其相关异常研究  

Associated anomalies and clinical outcome of prenatally diagnosed omphaloceles

作　　者：何花[1] 冯洁玲[1] 谢红宁[1] 李丽娟[1] 朱云晓[1] 彭软[1] 

机构地区：[1]中山大学附属第一医院超声科,广州510080

出　　处：《影像诊断与介入放射学》2012年第6期442-445,共4页Diagnostic Imaging & Interventional Radiology

摘　　要：目的分析产前超声诊断胎儿脐膨出与合并其他畸形及染色体异常的相关性,探讨可能影响脐膨出预后的因素。方法总结2003年9月～2012年4月产前超声诊断的脐膨出病例,按膨出内容物有无肝脏分为大型脐膨出和小型脐膨出,分析两者合并畸形种类、与染色体异常的关系及临床结局。结果产前超声诊断脐膨出共125例,其中单纯型脐膨出57例(45.6%),非单纯型脐膨出68例(54.4%)。非单纯型病例中伴发其他结构畸形常见为骨骼系统畸形42例(61.8%),心血管系统畸形40例(58.8%),神经系统畸形26例(38.2%)。大型脐膨出合并畸形例数为24例(24/72,33.3%),小型脐膨出合并畸形例数为44例(44/53,83.0%),两者合并畸形发生率差别有统计学意义(P<0.01)。68例行胎儿染色体核型分析,22例(31.7%)染色体异常病例均合并其他畸形,包括18三体综合征13例,13三体综合征7例,Turner's综合征1例,染色体片段异常1例。其中大型脐膨出4例(4/33,12.1%),小型脐膨出18例(18/35,51.4%),两者合并染色体异常发生率差别有统计学意义(P<0.01)。18例单纯型脐膨出病例出生,4例死亡,14例手术后存活至今。结论胎儿脐膨出常合并其他畸形,合并畸形时染色体异常的风险增大。小型脐膨出合并畸形及染色体异常发生率均高于大型脐膨出。Objective To investigate the associated malformations, chromosomal abnormalities and clinical outcome in the fetuses with omphalocele. Methods 125 fetuses with prenatally detected omphaloceles from September 2003 to April 2012 were categorized into two groups of giant omphaloceles containing liver and small omphaloceles without liver content. The associated anomalies, karyotypes and clinical outcome of the two groups were analyzed. Results Of the 125 fetuses with omphaloceles, 57 （45.6%） were isolated and 68 （54.4%） were associated with other malformations including skeletal dysplasia （42, 61.8%） and cardiac defect （40, 58.8%）. Forty-four of 53 （83.0 %） fetuses with small omphaloceles had significantly more associated anomalies than those with giant omphaloceles （24/72, 33.3%）. Of 68 fetuses with karyotyping, 22 were abnormal including trisomy-18 （13）, trisomy-13 （7）, 45, X （1） and chromosome segment abnormality （1）. Among these 22 fetuses, 18 （51：4%） had small omphaloceles and 4 （12.1%） had giant omphaloceles. The risk of chromosomal abnormalities was significantly higher in fetuses with small omphaloceles （P〈0.O1）. Conclusion Fetuses with omphaloceles often have additional anomalies. The risk of other malformations and abnormal karyotypes is higher in fetuses with small omphaloceles.

关 键 词：脐膨出 超声 先天畸形 染色体异常 临床结局 

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]