Congenital aqueduct stenosis: Progressive brain findings in utero to birth in the presence of severe hydrocephalus

PurposeTo evaluate the effects of progressive hydrocephalus on the developing brain in a cohort of fetuses diagnosed with congenital aqueduct stenosis by comparing prenatal magnetic resonance imaging and postnatal imaging. MethodsThis IRB approved single center retrospective review of prenatally diagnosed children with congenital aqueduct stenosis interrogated changes in the brain between prenatal and postnatal imaging and analyzed statistics using SAS software package version 9.3. ResultsThirty fetuses imaged at a mean gestational age of 26weeks had aqueduct obstruction confirmed by postnatal imaging. Progressive hydrocephalus required shunting in all but one patient (97%). Those patients with increasing hydrocephalus showed increase in ventricular rupture (60%), loss of septal leaflets (47%), and reduction in white matter and corpus callosum volume (43%). Cerebellar ectopia developed in 27% with 6% meeting the criteria for Chiari I malformation. ConclusionHydrocephalus in the fetus results in enlarging ventricular rupture, loss of the septum pellucidum leaflets, volume reduction of brain parenchyma including corpus callosum, and risk for Chiari I anomaly. Given advances in fetal surgery and imaging in the last 3 decades, there may be cause to revisit the idea of in utero cerebral spinal fluid diversion as a means to potentially ameliorate progressive loss of the developing brain.