Early Detection of Cortical Malformations During Pregnancy | Ritsuko Pooh
Summary :
During the fetal period, the embryonal premature central nervous system (CNS) structure rapidly develops into a mature structure with gyral formation. Within this rapid development, various developmental disorders and insults result in multiple phenotypes of fetal CNS abnormalities. For understanding fetal CNS diseases, basic knowledge of the development of the central nervous system is essential. Malformations of cortical development (MCD) are disorders of cerebral cortex formation caused by various genetic mutations, infections, vascular abnormalities, or metabolic abnormalities. MCD is associated with abnormal cortical structure, ectopic gray matter, 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 eight 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 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.
About Author :
Ritsuko K. Pooh graduated from Law and Medical Departments. As an Obstetrician, she dedicated to clinical investigation on embryos and fetal brain in perinatology. Especially, she introduced sophisticated fetal neuroimaging. She established CRIFM Prenatal Medical Clinic (https://fetal-medicine-pooh.jp/en/). Her Neurosonograms are really scientific/artistic, and displayed at NIH in USA. She received the Alfred Alfred Kratochwil Award, Lifetime Achievement Award, and Sir William Liley medal. She published 173 articles and 4 books. She established the clinical genetic laboratory (Ritz Medical Co., Ltd.) for performing latest genetic examination. She is a truly one of the international executives in perinatology.
