Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 15 , ISSUE 3 ( July-September, 2021 ) > List of Articles


Recent Fetal Neurology: From Neurosonography to Neurosonogenetics

Ritsuko K Pooh

Keywords : Brain damage, Exome sequencing, Fetus, Malformations of cortical development, Migration, Neurology, Neurulation, Proliferation, Prosencephalic, Single gene mutation

Citation Information : Pooh RK. Recent Fetal Neurology: From Neurosonography to Neurosonogenetics. Donald School J Ultrasound Obstet Gynecol 2021; 15 (3):229-239.

DOI: 10.5005/jp-journals-10009-1718

License: CC BY-NC 4.0

Published Online: 30-09-2021

Copyright Statement:  Copyright © 2021; Jaypee Brothers Medical Publishers (P) Ltd.


Among various congenital central nervous system (CNS) malformations, only cranial bifidum, spinal bifidum, and holoprosencephaly can be diagnosed during the early embryonic/fetal stage. Other CNS dysmorphic diseases occur after 13 weeks of gestation because CNS is formed through several developmental stages, including cell proliferation, neuronal migration, and post-migrational phases, after three gestational months. The recent significant advance of three-dimensional (3D) sonographic technology has accelerated fetal neuroimaging. Since the introduction of transvaginal, transfontanelle neuroimaging technique introduced in clinical practice, combined with 3D technology, has enabled us to conduct systematic neuroimaging analyses. Recently, congenital brain abnormalities have been classified not only by their morphological features but causal genetic factors. In this article, the author describes prenatal neuroimaging diagnoses and genetic causes, and fetal CNS disorders.

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