To present congenital abnormalities of the brainstem diagnosed in utero by Ultrasound and MRI.
Dedicated neurosonography and Magnetic resonance imaging allow visualization of the fetal posterior fossa. Most papers focus on the cerebellum and there are only few descriptions of the identification of brainstem anomalies in utero.
Methods—Ten cases of brainstem anomalies diagnosed by fetal ultrasound or MRI (gestational age range 18–34 weeks) were reviewed and correlated with other clinical, genetic, imaging, and autopsy findings.
The brainstem anomalies consisted of: brainstem interruption, tectal thickening, pontine tegmental CAP dysplasia, pontine hypoplasia, thinning of brainstem, kinked brainstem, molar tooth. In most cases, there were associated cerebellar anomalies. Associated cerebral anomalies included: holoprosencephaly, ventriculomegaly, cobblestone malformation, agenesis of corpus callosum.
Brainstem anomalies can be identified in utero. They are seldom isolated and associated with cerebellar, cerebral and systemic anomalies. They indicate severe neurodysgenesis and a poor prognosis. The identification of brainstem anomalies in utero is important in order to assist with further genetic evaluation, management, and counseling.