作者单位：636000 四川省巴中市中心医院通讯作者：杨桂兰

    【摘要】目的探讨产前超声对胎儿前脑无裂畸形的诊断价值。方法对产前超声发现的14例胎儿前脑无裂畸形的声像图特征及引产后尸检资料进行回顾性分析。结果产前诊断14例前脑无裂畸形胎儿(其中无叶全前脑6例，半叶全前脑7例，叶状全前脑1例)，引产后均经尸解证实,产前超声诊断准确率100%。颅脑异常的声像图表现为单一脑室、丘脑融合及脑镰、胼胝体等中线结构缺如,14例病例均伴有不同程度的颜面部畸形。结论产前超声对胎儿前脑无裂畸形具有重要的诊断价值,该病特有的颅脑声像图特征及大多伴有颜面部畸形的特点有助于诊断及鉴别诊断。【关键词】前脑无裂畸形；产前；超声诊断

    Prenatal ultrasound in diagnosis of 14 cases of holoprosencephalyYANG Gui-lan,YANG Qing-song,CHEN Mao,et al.Bazhong Central Hospital,Bazhong 636000,China【Abstract】ObjectiveTo explore prenatal ultrasound in diagnosis of the Holoprosencephaly(HPE).MethodsThe ultrasound image and the autopsy data after induced abortion were retrospectively analysed in 14 cases with fetal HPE,summarizing their abnormal ultrasound imaging characteristic.ResultsPrenatal ultrasound detected 14 cases of HPE (including 6 cases of no leaves whole forebrain,7 cases of half of the whole forebrain,one case of leafy whole forebrain).All cases were confirmed by autopsy after the abortion,the accuracy rate of prenatal ultrasound diagnostic was 100%.The characteristic ultrasound findings in HPE included a single ventricle,thalamus fusion,absence of midline structures such as the falx cerebri and corpus callosum,and facial abnormalities.ConclusionPrenatal ultrasound has important value in the diagnosis of HPE,the characteristic ultrasound findings of the intracranial and facial abnormalities are helpful for the diagnosis and differential diagnosis.【Key words】Holoprosencephaly;Prenatal;Ultrasound diagnosisdoi:10.3969/j.issn.1674-4985.2012.01.051前脑无裂畸形(holoprosencephaly,HPE)又称全前脑 ......