CAJ | 학술논문

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。
목적：총결변지체부분성결실급발육불량태인산전이유초성상규횡절면특정성상，위산전초성진단부분성변지체결실제공선색。방법：회고성분석본원2006년지금경MRI혹대체병리학진적단순성변지체부분성결실병례산전상규이유횡절면성상도중투명격간강결실、측뇌실이상급제삼뇌실상태발생솔，추종예후급염색체결과。결과：경MRI혹대체병리증실단순성변지체부분성결실병례10례。9례위부분성변지체결실，1례위변지체발육불량。투명격간강결실솔20％，측뇌실이상발생솔60％，제삼뇌실상태발생솔80％。8례종지임신，2례출생：1례수방지2세，생장발육무이상；1례3세，수방지금，생장발육균락후우동령인동。6례행염색체검사，결과균정상。결론：이이유초성횡절면간접정상작위변지체부분성결실적산전진단선색시가행적。변지체부분성결실태인특정성상발생솔여완전성변지체결실태인불동，기측뇌실급제삼뇌실이상발생솔교투명격간강결실솔고。단순성변지체부분성결실태인염색체결과정상，예후미지。
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.