MRI在胎儿大脑皮质发育畸形产前诊断中的价值

The value of prenatal diagnosis of fetal malformation of cortical development by MRI

目的:总结胎儿大脑皮层发育畸形(MCD)的MRI特点,以提高胎儿MCD诊断及鉴别诊断能力。方法:回顾性分析21例胎儿MCD的MRI表现,总结MRI影像特征及与胎龄关系。结果:21例异常胎儿,半侧巨脑回畸形2例,脑室旁结节性灰质异位3例,无脑回畸形6例,先天性肌营养不良2例,多小脑回畸形2例,脑裂畸形5例,原发性小头畸形1例。结论:MRI是诊断胎儿MCD的最佳影像学方法,脑裂畸形、先天性肌营养不良、半侧巨脑回畸形中孕期可诊断,无脑回畸形、多小脑回及脑室旁结节性灰质异位、原发性小头畸形需孕晚期或产后MRI复查明确诊断。

Objective: Summarizing the MRI features of fetal cerebral cortex development malformation (MCD) to improve the ability of diagnosis and differential diagnosis. Methods: Retrospectively analyzing the MRI findings of 21 patients with MCD, and summarizing the relationship of the features of MRI and gestational age. Results: Twenty-one abnormal fetuses: 2 cases of hemimegyria, 3 cases of paraventricular nodular ectopia of gray matter (PNH), 6 cases of anencephaly, 2 cases of congenital muscular dystrophy(CMD), 2 cases of polymicrogyria(PMG), 5 cases of schizencephaly, and 1 case of primary microcephary. Conclusion: MRI is the best imaging method to diagnose fetal MCD. Schizencephaly, CMD and hemimegyria can often be diagnosed in the second-trimester;anencephaly, PMG, PNH and microcephalusare more likely to be diagnosed in the third-trimester or postpartum, and confirmed by follow-up MRI.