Prenatal diagnosis of a transsphenoidal meningoencephalocele

This is probably the first case of a prenatally diagnosed transsphenoidal meningoencephalocoele. A protruding cystic mouth mass was detected at 21 weeks' gestation in conjunction with a palatal defect and a suspicion of herniation of the posterior fossa. Amniocentesis revealed a normal molecular karyotype and normal whole-exome analysis. Foetal MRI confirmed the presence of a sphenoidal bone defect and herniation of a meningeal sac containing parts of the cerebellum and medulla. Due to the poor prognosis, the patient opted for a termination of pregnancy but agreed to a full autopsy and postmortem imaging, which confirmed the diagnosis.