产前超声对胎儿前脑无裂畸形的诊断价值

The diagnostic value of prenatal ultrasound in fetal Holoprosencephaly

目的探讨产前超声对胎儿前脑无裂畸形的诊断及鉴别诊断价值。方法对13例产前超声诊断的前脑无裂畸形的声像图特征及引产术后结果进行回顾性分析。结果产前诊断的13例前脑无裂畸形胎儿引产后均被证实,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,13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。

Objective To study the diagnostic and differential diagnostic value of prenatal ultrasound on fetal holoprosencephaly （HPE）. Methods The data of abnormal 2D - ultrasound imaging characteristic and the results after induced abortion in 13 cases with fetal HPE were analyzed retrospectively. Results Thirteen cases with fetal HPE diagnosed by prenatal ultrasound and autopsy after induced abortion were confirmed and the accuracy rate was 100%. The characteristic ultrasound findings in HPE showed the 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 for fetal HPE, the characteristic ultrasound findings of the intracranial and facial abnormalities are helpful for the diagnosis and differential diagnosis of fetal HPE.