胎儿脑灰质异位的产前诊断及文献回顾

Prenatal diagnosis of fetal gray matter heteropia in one case and literature review

目的探讨胎儿大脑灰质异位（FGMH）的产前超声图像特征并评价其最佳产前诊断方法。方法对1例大脑灰质异位产前产后超声图像以及核磁共振图像进行分析,结合产前诊断该病的相关文献进行回顾性分析,比较产前超声及MRI对FGMH的检出率。结果总结1998~2015年文献11篇,结合本文报道1例,产前诊断灰质异位44例,经活产或引产后证实且有产前超声和产前MRI资料者32例,其中超声检出率43.8%,MRI检出率93.8%,二者检出率比较差异有统计学意义（P〈0.001）。结论只有室管膜下型大脑灰质异位才有可能为产前超声所发现,其他类型主要依靠MRI。MRI是FGMH最佳产前诊断方法,当产前超声提示灰质异位时都应进一步行MRI检查。

Objective To investigate the prenatal ultrasonic manifestations of fetal gray matter heterotopias（FGMH） and evaluate the optimal method its prenatal diagnosis. Methods The prenatal and postnatal ultrasound images and MRI images were analyzed for a fetus with a definitive diagnosis of FGMH. The detection rates of FGMH by prenatal ultrasound and MRI reported in literature were compared. Results We identified 11 reports of FGMH from 1998 to 2015, involving 43 cases with prenatal diagnoses. Of the total of 44 cases（including our case）, 32 that had been confirmed postpartum had prenatal ultrasound and MRI data, which showed a significantly lower detection rates of FGMH by prenatal ultrasound than by MRI（43.8% vs 93.8%, P〈0.001）. Conclusions Prenatal ultrasound can only detect subependymal heterotopia with characteristic manifestations, and the detection of other types of FGMH relies on MRI, which is currently the best option for prenatal diagnosis of FGMH.