P09.21: Prenatal features of palpebral fissure slant and lip morphology assessed by three‐dimensional ultrasound on a Down syndrome fetus

Abstract

revealing a ventriculomegaly with septal agenesis and corticalassociated abnormalities suggestive of schizencephaly. Prenatalmagnetic resonance imaging (MRI) was performed in one case andconfirmed the diagnosis of bilateral schizencephaly. Both womenrequested termination of pregnancy because of the importance ofthe cortical defect and the poor predicted prognosis. Schizencephalyis rarely diagnosed prenatally. It is a neuronal migration anomalycharacterized by gray matter lined clefts extending from the ventricleto the cortical surface leading to specific lesions, well demonstratedby imaging. The lips of the clefts can be fused or separated. In bothof our cases, one side was fused and the other side was separated.Prognosis is related to the extent of the involved cortex. Bothgenetic and acquired factors can be responsible for this pathology.Ultrasound alone can lead to the diagnosis, but MRI can help toconfirm the type and extension of the lesion.Supporting information can be found in the online version ofthis abstract.