Malformations of cortical development (MCD) can frequently be diagnosed at multi-disciplinary Fetal Neurology clinics with the aid of multiplanar neurosonography and MRI.

The patients are usually referred following prenatal sonographic screening that raises the suspicion of a possible underlying MCD. These indirect findings include, but are not limited to, ventriculomegaly (lateral ventricles larger than 10 mm), asymmetric ventricles, commissural anomalies, absent cavum septum pellucidum, cerebellar vermian and/or hemispheric anomalies, abnormal head circumference (microcephaly or macrocephaly), multiple CNS malformations, and associated systemic defects.

The aim of this paper is to suggest a practical approach to prenatal diagnosis of malformations of cortical development utilizing dedicated neurosonography and MRI, based on the current literature and our own experience.

We suggest that an MCD should be suspected in utero when the following intracranial imaging signs are present: abnormal development of the Sylvian fissure; delayed achievement of cortical milestones, premature appearance of sulcation; irregular ventricular borders, abnormal cortical thickness (thick, thin); abnormal shape and orientation of the sulci and gyri; irregular, abnormal, asymmetric, and enlarged hemisphere; simplified cortex; non continuous cortex or cleft; and intraparenchymal echogenic nodules.

Following the putative diagnosis of fetal MCD by neurosonography and MRI, when appropriate and possible (depending on gestational age), the imaging diagnosis is supplemented by genetic studies (CMA and trio whole exome sequencing). In some instances, no further studies are required during pregnancy due to the clear dire prognosis and then the genetic evaluation can be deferred after delivery or termination of pregnancy (in countries where allowed).

借助多平面神经超声检查和 MRI，多学科胎儿神经病学诊所经常可以诊断出皮质发育畸形 (MCD)。

患者通常在产前超声检查后被转诊，这引起了对可能的潜在 MCD 的怀疑。这些间接发现包括但不限于脑室扩大（侧脑室大于 10 毫米）、不对称脑室、连合异常、透明隔腔缺失、小脑蠕虫和/或半球异常、头围异常（小头畸形或大头畸形）、多发性中枢神经系统畸形和相关的全身缺陷。

本文的目的是根据目前的文献和我们自己的经验，提出一种利用专用神经超声和 MRI 对皮质发育畸形进行产前诊断的实用方法。

当出现以下颅内影像学征象时，我们建议在子宫内怀疑 MCD： 外侧裂异常发育；皮质里程碑的延迟实现，沟渠过早出现; 心室边界不规则，皮质厚度异常（厚，薄）; 脑沟和回的异常形状和方向；不规则、异常、不对称和扩大的半球；简化皮层；非连续皮质或裂隙；和实质内回声结节。

在通过神经超声检查和 MRI 对胎儿 MCD 进行假定诊断后，在适当和可能的情况下（取决于胎龄），影像诊断由遗传研究（CMA 和三重外显子组测序）补充。在某些情况下，由于明显的可怕预后，在怀孕期间不需要进一步研究，然后在分娩或终止妊娠后（在允许的国家）可以推迟遗传评估。