P03.02: Outcome of antenatally diagnosed retinal detachment

Abstract

syndrome is a combination of findings including posterior fossa malformations, segmental hemangiomas, arterial anomalies, cardiac defects, eye abnormalities and sternal or ventral defects. 70% of affected children have only a single extracutaneous manifestation, most commonly segmental hemangioma. Unilateral cerebellar hemihypoplasia ipsilateral to the hemangioma is the most common brain malformation. Posterior fossa malformations in a female fetus, especially if associated with supratentorial brain findings, should alert the sonographer to the possibility of syndromes such as Aicardi and PHACES. Fetal MRI may show eye abnormalities (e.g. coloboma) that are not possible to detect on prenatal ultrasound. Once aneuploidy is excluded, vascular malformations, congenital heart disease or a sternal cleft increase suspicion for PHACES syndrome. Observation of the anterior chest during fetal breathing may demonstrate paradoxical motion in the presence of a sternal cleft.