13-三体综合征胎儿的孕中期超声指标分析  

Analysis of sonographic indicators in fetus with trisomy 13 in the second trimester

作　　者：袁红[1] 朱鹏[2] 任景慧[3] 肖伟伟 李启运 林秀华 曾君 戴勇 

机构地区：[1]深圳市人民医院妇产科B超室,广东深圳518020 [2]深圳市坪山新区人民医院中心实验室,广东深圳518000 [3]深圳市人民医院产前诊断中心,广东深圳518020 [4]深圳市人民医院临床医学研究中心,广东深圳518020

出　　处：《中国医学影像技术》2015年第6期897-900,共4页Chinese Journal of Medical Imaging Technology

基　　金：广东省科技计划项目(2013B060400011);深圳市科技创新委员会项目(JCYJ20130401093116730)

摘　　要：目的评估孕中期超声检查对13-三体综合征胎儿的诊断价值。方法回顾分析本院26胎经染色体核型分析确诊为13-三体综合征胎儿的声像图资料。结果前脑无裂畸形12胎(12/26,46.15%)、唇/腭裂9胎(9/26,34.62%)、室间隔缺损9胎(9/26,34.62%)、肾脏异常8胎(8/26,30.77%)、眼眶异常7胎(7/26,26.93%)、鼻发育异常5胎(5/26,19.23%)、脑室增宽4胎(4/26,15.38%)、羊水过多伴宫内生长受限2胎(2/26,7.69%)、独眼1胎(1/26,3.85%)。声像图异常率为92.31%(24/26),均表现为2种及以上异常指标。结论孕中期超声检查对诊断13-三体综合征具有一定的意义;结合染色体核型分析可提高13-三体综合征的产前诊断率,并能降低其出生率。Objective To evaluate the value of ultrasonography in diagnosis of trisomy 13 syndrome in the second trimester.Methods Prenatal ultrasonography characteristics of 26 fetuses with trisomy 13 syndrome confirmed by karyotype were retrospectively analyzed.Results Abnormal ultrasonographies symptoms were holoprosencephaly（12/26,46.15%）,lip or cleft palate（9/26,34.62%）,ventricular septal defect（9/26,34.62%）,renal abnormalities（8/26,30.77%）,orbital anomalies（7/26,26.93%）,nose abnormality（5/26,19.23%）,ventriculomegaly（4/26,15.38%）,polyhydramnios and intrauterine growth retardation（2/26,7.69%）,and one eye（1/26,3.85%）.Abnormal ultrasonographies rate was92.31%（24/26）,there was two or more indicators anomalies.Conclusion Ultrasonography is effective in detection of fetuses with trisomy 13 syndrome in the second trimester.Combining with karyotype,it is valuable in improving the prenatal diagnosis of fetus with trisomy 13 syndrome and decreasing the birth rate of fetus with trisomy 13 syndrome.

关 键 词：13-三体综合征 超声检查 产前 先开性畸形 

分 类 号：R714.53[医药卫生—妇产科学] R445.1[医药卫生—临床医学]