产前系统超声检查对胎儿前脑无裂畸形的诊断价值

Diagnostic value of systematic prenatal ultrasound to fetal holoprosencephaly

目的探讨胎儿前脑无裂畸形(HPE)的超声表现及产前系统超声检查在胎儿前脑无裂畸形诊断中的价值。方法回顾性分析16 856例于我院产前超声检查中发现的6例胎儿HPE超声声像图表现。结果本研究6例前脑无裂畸形中无叶型前脑无裂畸形5例,半叶型前脑无裂畸形1例,超声表现为:单一原始脑室、丘脑融合、脑中线结构缺如、中线性颜面部畸形、先天性心脏严重畸形等。6例引产后均经尸检证实。结论产前胎儿系统超声检查对于胎儿无叶及半叶前脑无裂畸形有较高的诊断价值,降低严重缺陷儿出生率,对临床诊断有重要意义。

Objective To discuss the ultrasonographic appearance of holoprosencephaly and the di- agnostic value of systemic prenatal ultrasound. Methods Analyzed the ultrasonographic appearance of 6 cases of HPE diagnosed in 16856 cases who underwent systematic prenatal ultrasonography examination. Results Among the 6 cases of non--holoprosencephaly, 5 was entire holoprosencephaly and 1 was semi--holoproseneephaly. Ultrasonographie appearance as follows： single primitive ventricle, thalamic fusion, absence of brain midline structrures, the linear facial deformities, seriously congenital heart de- formities. All of the 6 cases were confirmed by corpases. Conclusions Systematic prenatal ultrasonogra- phy examination has higher diagnostic value to entire holoprosencephaly and semi--holoprosencephaly, can reduce the birth rate of serious defect. It has an important significance in clinical diagnosis.