Malformations of Cortical Development (MCDs)

Malformations of cortical development (MCDs), though individually rare, are collectively a significant health concern. These conditions originate in the womb due to a range of genetic and environmental factors and their intricate interplays. Technological advances, particularly next-generation sequencing (NGS) in molecular genetics, alongside diagnostic efforts, have progressively elucidated the causes of MCD and transformed its classification system. Historically, MCD classification relied on pediatric MRI findings and gene identification, but recent enhancements in fetal neurosonography now allow for early indirect detection of MCD, predicting its presence before the formation of cortical gyri and sulci is evident. Recent upgrades in ultrasound technology have enhanced our capability to assess both the normal development and the maldevelopment of the cerebral cortex, identifying not just overt cortical anomalies but also subtle indicators. Ongoing discoveries in molecular genetics are yielding new pathogenic genes regularly. Despite having the same genetic mutations, a wide array of phenotypic expressions has been observed, challenging the assumption of a direct phenotype–genotype correlation. This field is expected to benefit from further structuring and categorization with the help of artificial intelligence in upcoming years.