The wide spectrum of ultrasound diagnosis of holoprosencephaly.

Abstract

Holoprosencephaly (HPE) is the most common brain malformation. A wide spectrum of anatomical variants arecharacterized by a lack of midline separation of the cerebral hemispheres. The aim of this study was to assess the ultrasounddiagnostic criteria for HPE. A database of 175 fetuses with central nervous system anomalies identifiedby ultrasound was collected retrospectively from 2006 to 2016 in this multicenter, retrospective, observational study. Amongthem 18 cases (10.2%) with HPE were identified. The prevalence of HPE was 2.5:10.000 with the sex distributionmale:female of 1:1.6. Six cases were alobar subtype, 3 were semilobar, 7 were lobar and 2 were middle interhemispheric variant.In the second trimester, we consider that the abnormal fusion of the lateral ventricles and the absence of the cavum septumpellucidum are the most important landmarks for HPE. Facial abnormalities varied considerably. This study illustratesthe heterogeneity of HPE with different cerebral and facial appearances.