Prenatal diagnosis of brainstem anomalies

Abstract

Prenatal diagnosis of brainstem anomalies is important due to the usually associated neurodevelopmental impairment and genetic implications. The extreme developmental changes that the brainstem and cerebellum undergo during fetal life pose a challenge for the characterization and definition of the different malformations. The present review aims to demonstrate the normal development of the fetal brainstem and to present the main features required for diagnosis of its anomalies according to available data in the medical literature.

Keywords: Cerebellar hypoplasia; Cobblestone malformation; Diencephalic-mesencephalic junction; Fetal brain; Fetal neurosonography; Joubert syndrome; Rhombencephalosynapsis; Vermian hypoplasia.