CAJ | 학술논문

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。
목적탐토산전초성진단태인투명격강（CSP）결여적림상의의。방법채용이유급삼유초성대남경의과대학부속소주의원산전미현시투명격강적63례태인행로뇌초성중점관찰，병대상관기형초성특정진행총결분석。결과63례태인산전로뇌이유초성균미현시투명격강，투명격강결여태인상관기형포괄：（1）변지체결실5례（완전성변지체결실4례，부분성변지체결실1례）；（2）전뇌무렬기형27례（무협형전뇌무렬기형18례，반협형전뇌무렬기형5례，협상형전뇌무렬기형4례）；（3）뇌렬기형1례；（4）공동뇌2례；（5）적수형무뇌기형5례；（6）엄중뇌적수23례（중뇌도수관협착소치5례，개방성척주렬소치18례）。이유급삼유초성현시투명격강결여태인합병기타기형포괄：Dandy-Walker기형1례、Dandy-Walker변이1례、중앙형진렬14례、단비공5례、훼비2례、단심실2례、족내번3례、단제동맥4례등。63례태인초성검사후균진행수방，58례산전초성진단결과여수방결과균일치，1례시-격발육불량오진위협상형전뇌무렬기형，4례실수방。결론투명격강시중、만잉기초성관측태인중추신경계통발육적중요지표，투명격강결여다반발태인전뇌병변화중선결구발육불량등다충로뇌기형。산전초성재쌍정경평면즉가관찰투명격강，초성시관찰유무투명격강적수선방법。
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.