摘要:目的: 探讨产前超声检查对胎儿前脑无裂畸形的诊断及鉴别价值。 方法 :对我院产前超声筛查中发现的17例胎儿前脑无裂畸形的超声声像图及引产后的尸检资料进行回顾性对照分析。 结果 :产前超声诊断的17例前脑无裂畸形全部经引产后尸检证实,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,大多数病例均伴有不同程度的颜面部畸形。 结论 :产前超声对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。Abstract: Objective: To explore the diagnostic and differential diagnostic value of prenatal ultrasound in fetal holoprosencephaly. Methods : The sonograms and autopsy data of 17 cases of fetal holoprosencephaly found in 21568 pregnant women by prenatal ultrasound were analyzed retrospectively. Results : Seventeen cases of fetal holoprosencephaly diagnosed by prenatal ultrasound and autopsy were confirmed. Characteristic ultrasound findings in holoprosencephaly included a single primitive ventricle, fused thalami, absence of midline structures such as the falx cerebri and corpus callosum, and facial abnormalities. Conclusion : Prenatal ultrasound has important value in the diagnosis of fetal holoprosencephaly. The characteristic ultrasound findings of the intracranial and facial abnormalities are helpful for the diagnosis and differential diagnosis of holoprosencephaly.