胎儿前脑无裂畸形的产前超声诊断及分析

摘要

Objective To investigate ultrasonic features of fetal holoprosencephaly and to explore the value of prenatal ultrasonogra-phy diagnosis of HPE.Methods The ultrasonic manifestations of 6 fetuses with holoprosencephaly diagnosed with prenatal ultrasonography were retrospectively analyed.Results 6 fetuses were diagnosed with holoprosencephaly includig 2 fetuses of alobar holoprosencephaly and 4 fetuses of lobar holoprosencephaly.2 cases of alobar associated with complex facial midline deformities and other anomalies.One case had pro-boscis,cyclopia,left side microtia,right side anotia,complete endocardial cushion defect,gastroschisis,acromphalus,genital anomalies and polydactyly.Another case had hypotelorism,single nostril,absent nasal bone.Conclusion Systemic prenatal ultrasonography is the main pro-ject of fetal malformation screening,which has high clinical value in diagnosis and classification of ventricular dysplasia,with its intuition and repeatability.%目的：观察胎儿前脑无裂畸形声像图特点，探讨产前超声诊断前脑无裂畸形的价值。方法回顾性分析经过系统产前超声检查发现的6例前脑无裂畸形声像图表现，并进行总结。结果6例前脑无裂畸形中，无叶型2例，叶状型4例。2例无叶前脑无裂均伴有复杂性面部中线畸形及其他器官畸形，其中1例合并喙鼻、独眼、左侧小耳、右侧无耳、完全性心内膜垫缺损、腹壁裂、脐膨出、外生殖器畸形、多指及多趾畸形，另1例合并眼距过近、鼻骨缺失、单鼻孔。结论系统产前超声检查是目前胎儿畸形筛查主要的项目，其直观、可重复性好，对脑室结构发育异常的诊断、分型，具有较高的临床价值。