Neurosonographic Approach to Malformations of Cortical Development
Takako Nakamura, Hideaki Chiyo
Citation Information :
Nakamura T, Chiyo H. Neurosonographic Approach to Malformations of Cortical Development. Donald School J Ultrasound Obstet Gynecol 2021; 15 (2):179-187.
Malformations of cortical development (MCD) are disorders of cerebral cortex formation caused by various genetic mutations, infections, vascular abnormalities, or metabolic abnormalities. Malformations of cortical development are associated with abnormal cortical structure, ectopic gray matter, and odd brain size. It is hard to depict cortical development and its disorder by ultrasonography during the fetal period. The phenotype of cortical development does not appear until 8 months of gestation when gyrus/sulcus formation becomes apparent. Early detection of impaired cell migration and cortical maldevelopment is a challenge in the field of prenatal fetal neuroimaging. However, longitudinal neuroimaging throughout the embryological and fetal period, combined with the precise genetic investigation, fetal MCD has been diagnosed due to the development of neuroimaging and the remarkable development of the next-generation sequencing. Perhaps shortly, fetal MCD diagnosis will be possible more accurately and earlier. The combination of molecular genetics and detailed neurosonography has established “Neurosonogenetics”, a new field in multidisciplinary prenatal neurology, for prompt prenatal/postnatal management, care, prevention, and treatment in fetal and pediatric neurology.
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