胎儿胼胝体部分性缺失及发育不良横切面特征声像分析  

Indirect ultrasonic signs of the callosal partial agenesis and hypoplasia in the fetus

作　　者：蔡丹蕾[1] 李丽娟[1] 汪南[1] 吴丽红[1] 杜柳[1] 谢红宁[1] 

机构地区：[1]中山大学附属第一医院,广州市510080

出　　处：《实用医学杂志》2014年第20期3302-3304,共3页The Journal of Practical Medicine

摘　　要：目的:总结胼胝体部分性缺失及发育不良胎儿产前二维超声常规横切面特征声像,为产前超声诊断部分性胼胝体缺失提供线索。方法:回顾性分析本院2006年至今经MRI或大体病理确诊的单纯性胼胝体部分性缺失病例产前常规二维横切面声像图中透明隔间腔缺失、侧脑室异常及第三脑室上抬发生率,追踪预后及染色体结果。结果:经MRI或大体病理证实单纯性胼胝体部分性缺失病例10例。9例为部分性胼胝体缺失,1例为胼胝体发育不良。透明隔间腔缺失率20%,侧脑室异常发生率60%,第三脑室上抬发生率80%。8例终止妊娠,2例出生:1例随访至2岁,生长发育无异常;1例3岁,随访至今,生长发育均落后于同龄儿童。6例行染色体检查,结果均正常。结论:以二维超声横切面间接征象作为胼胝体部分性缺失的产前诊断线索是可行的。胼胝体部分性缺失胎儿特征声像发生率与完全性胼胝体缺失胎儿不同,其侧脑室及第三脑室异常发生率较透明隔间腔缺失率高。单纯性胼胝体部分性缺失胎儿染色体结果正常,预后未知。Objective To investigate antenatal sonographic findings of the fetal isolated callosal hypoplasia and partial agenesis. Methods A retrospective study was performed on the cases of hypoplasia and partial agenesis of the corpus callosum suspected at antenatal sonographic basic examination from 2006 to 2014, all the cases were confirmed by pathology or magnetic resonance imaging（MRI）. For the surviving infants, clinical follow-up had been performed to assess the developmental outcome. Results Thirteen fetuses suspected with callosal underdevelopment were identified at a median gestational age of 31 （range, 18~39） weeks. Ten cases were confirmed by autopsy and MRI, including 9 with partial agenesis and 1 with hypoplasia. Among the 10 fetuses confirmed with isolated partial agenesis or with hypoplasia, incidence of the absent cavum septum pellucidum was 20%, the ‘Tear-drop’ lateral ventricles was 40%, the upward displacement of the third ventricle was 80%. Pregnancy was terminated electively in 8 of the cases with partial agenesis or with hypoplasia. Among the 2 surviving infants, apparent normal development was observed in only one case, but we lost the follow-up of this case at two-year-old. Six fetuses received the chromosome identification, almost all of them were normal. Conclusion The basic ultrasonic examination is feasible for the antenatal diagnosis of isolated callosal underdevelopment the. The indirect classical signs of callosal partial agenesis and hypoplasia are different with those of complete agenesis of the corpus callosum. The incidences of the‘Tear-drop’ lateral ventricles and the upward displacement of the third ventricle are higher than the absence of CSP. The chromosome of isolated callosal partial agenesis or hypoplasia is normal, however, the prognosis is uncertain.

关 键 词：胼胝体部分性缺失 胎儿 间接征象 横切面 

分 类 号：R714.5[医药卫生—妇产科学]