Neuroimaging and Genetics in Brain Maldevelopment

Fetal brain malformations diagnosed in early pregnancy are limited to cranial bifidum, spinal bifidum, and holoprosencephaly. Other brain dysmorphic disorders occur after the first trimester because neuronal growth, including proliferation, migration, and post-migrational development, starting from 3 months of gestation. Recent advanced technology with three-dimensional (3D) ultrasound has accelerated prenatal neuroimaging. Trans-fontanelle brain imaging by transabdominal or transvaginal ultrasound has been introduced in routine clinical practice. A combination of 3D ultrasound and the trans-fontanelle procedure has guided us to the systematic neuroimaging. However, congenital brain abnormalities cannot be classified only by morphological imaging diagnosis, but are now being categorized based on causal genetic factors. In this chapter, the author describes the imaging diagnoses and genetic causes and of fetal cerebral disorders.