胎儿单侧小脑发育不全的产前超声诊断

Prenatal diagnosis of fetal unilateral cerebellar hypoplasia by ultrasound and review of the literature

目的:探讨胎儿单侧小脑发育不全(UCH)产前超声声像图特征。方法:总结2018年1月至2019年12月于南方医科大学附属深圳妇幼保健院,在胎儿系统超声检查中诊断为UCH的6例胎儿的产前超声声像图表现,与MRI、引产后超声及病理解剖结果进行对比,并结合产前诊断该疾病的相关文献对UCH胎儿产前超声诊断特点及临床预后进行分析。结果:6例UCH胎儿产前超声声像图典型表现:两侧小脑半球不对称和(或)小脑横径减小,伴或不伴蚓部异常,发育不全侧小脑减小,形态失常,其中3例受累侧小脑半球边界不规则,对侧小脑形态及大小均正常。临床预后:6例胎儿中1例活产,随访至1岁,未出现神经症状。结合本研究6例UCH胎儿及文献报道的36例胎儿产前和产后检查结果分析均显示:单纯UCH胎儿、不合并颅内异常的UCH胎儿以及无产前生长受限、早产等不良孕产史的UCH胎儿短期预后均好于合并颅内异常的UCH胎儿。结论:UCH有特征性产前超声表现,产前超声发现小脑半球不对称,一侧小脑减小、形态失常时可作出诊断,诊断不明确时可结合MRI进行鉴别诊断。

Objective To explore the prenatal ultrasound features of fetal unilateral cerebellar hypoplasia.Methods The prenatal ultrasonograms of six fetuses at Shenzhen Maternity and Child Healthcare Hospital Affiliated to Nanfang Medical University,who were diagnosed as having unilateral cerebellar hypoplasia were retrospectively reviewed.The prenatal ultrasound characteristics were summarized,and compared with the features of magnetic resonance imaging(MRI),postnatal ultrasound,and autopsy examinations.A literature review of prenatal diagnosis of such abnormality was performed.Results The prenatal ultrasonograms of the six cases of unilateral cerebellar hypoplasia were characterized as asymmetry of the cerebellar hemispheres and/or a decrease in the transverse cerebellar diameter,with or without deformity of the cerebellar vermis.The cerebellum volume of the affected side decreased,along with an abnormal morphology,while the contralateral side was normal.Three cases had irregular borders in the affected side.After birth,one of the six fetuses was followed to one year old without neurological symptoms.Based on the prenatal and postnatal examination results of the six cases in the present study and those of 36 cases reported in the literature,it was found that cases with isolated unilateral cerebellar hypoplasia and those without intracranial abnormalities or other adverse pregnancy history like prenatal growth restriction or premature birth had better short-term prognosis than unilateral cerebellar hypoplasia fetuses with intracranial abnormalities.Conclusion Unilateral cerebellar hypoplasia can be prenatally diagnosed based on the characteristic ultrasonic features and MRI can be used for differential diagnosis.