胎儿透明隔腔缺如的产前超声诊断

摘要

目的探讨产前超声诊断胎儿透明隔腔（CSP）缺如的临床意义。方法采用二维及三维超声对南京医科大学附属苏州医院产前未显示透明隔腔的63例胎儿行颅脑超声重点观察，并对相关畸形超声特征进行总结分析。结果63例胎儿产前颅脑二维超声均未显示透明隔腔，透明隔腔缺如胎儿相关畸形包括：（1）胼胝体缺失5例（完全性胼胝体缺失4例，部分性胼胝体缺失1例）；（2）前脑无裂畸形27例（无叶型前脑无裂畸形18例，半叶型前脑无裂畸形5例，叶状型前脑无裂畸形4例）；（3）脑裂畸形1例；（4）孔洞脑2例；（5）积水型无脑畸形5例；（6）严重脑积水23例（中脑导水管狭窄所致5例，开放性脊柱裂所致18例）。二维及三维超声显示透明隔腔缺如胎儿合并其他畸形包括：Dandy-Walker畸形1例、Dandy-Walker变异1例、中央型唇裂14例、单鼻孔5例、喙鼻2例、单心室2例、足内翻3例、单脐动脉4例等。63例胎儿超声检查后均进行随访，58例产前超声诊断结果与随访结果均一致，1例视-隔发育不良误诊为叶状型前脑无裂畸形，4例失随访。结论透明隔腔是中、晚孕期超声观测胎儿中枢神经系统发育的重要指标，透明隔腔缺如多伴发胎儿前脑病变和中线结构发育不良等多种颅脑畸形。产前超声在双顶径平面即可观察透明隔腔，超声是观察有无透明隔腔的首选方法。%Objective To explore the clinical significance of prenatal diagnosis for absence of fetal cavum septum pellucidum (CSP) by ultrasonography. Methods The ultrasonographic characteristics were retrospectively analyzed in 63 fetuses, whose CSPs were not detected in prenatal two and three dimensional ultrasonography in Nanjing Medical University Affiliated Suzhou Hospital. Results In 63 fetuses with absent CSP, the related malformations included:(1) Five cases were diagnosed as agenesis of corpus callosum (ACC, including four complete ACC and one partial ACC);(2) Twenty-seven cases were diagnosed as holoprosencephaly (HPE, including 18 alobar HPE, ifve semilobar HPE and four lobar HPE);(3) One case was diagnosed as schizencephaly;(4) Two cases were diagnosed as porencephaly;(5) Five cases were diagnosed as hydranencephaly;(6) Twenty-three cases were diagnosed as severe hydrocephalus, among which ifve cases were caused by aqueductal stenosis and the other 18 cases were caused by open spina biifda (Chiari Ⅱ malformation). These absent CSP fetuses had other abnormalities including one case of Dandy-Walker Malformation, one case of Dandy-Walker Variation, 14 cases of median cleft lip, ifve cases of single naris, two cases of proboscis nose, three cases of talipes foot and four cases of single umbilical artery, etc. These 63 cases were all followed up after prenatal ultrasonography but 4 cases were missed and one case of septo-optic dysplasia was misdiagnosed as lobar HPE. The diagnoses of other 58 fetuses by ultrasonography were conifrmed by follow up. Conclusions CSP is considered as an essential part in prenatal evaluations of the fetal central nervous system during second-and third-trimester. Absence of CSP is always accompanied with an extremely wide spectrum of fetal neuroanatomic malformations, including prosencephalon diseases, intracranial midline anomalies, etc. Prenatal ultrasonography is the best choice for the observation of CSP.