Main congenital cerebral anomalies: how prenatal imaging aids counseling

Abstract

The purpose of this article is to discuss some common cerebral lesions that may be detected during prenatal screening: corpus callosum dysgenesis, absent septum pellucidum, localized parenchymal ischemic-hemorrhagic lesions, megacisterna magna, Blake's pouch cyst, posterior fossa arachnoid cyst and Dandy-Walker malformation. For each cerebral defect, the main imaging findings are reminded, certain differential diagnoses are discussed and prenatal diagnostic accuracy is analyzed with emphasis on uncertainties encountered during analysis of ultrasound or magnetic resonance images. Detecting cerebral lesions in fetuses requires rapid counseling by neuropediatricians. Keeping in mind that the prenatal diagnostic accuracy is not 100%, the neuropediatricians have to answer the parents' questions regarding the outcome of the unborn child as well as the risk of recurrence for future pregnancies. This article is based on the authors' large experience in both prenatal imaging and neurocounseling. The frequently asked questions are set up. Answers are provided, underscoring the importance of an appropriate description of the cerebral defect, and therefore the pivotal role of prenatal imaging. However, prenatal neurocounseling remains challenging and the parents must be aware of uncertainties regarding both diagnostic accuracy and prognostic evaluation.