In utero sonographic diagnosis of semilobar holoprosencephaly.

Abstract

Since its early diagnostic application in the study of pregnancy, ultrasonography (US) has been widely employed in the detection of fetal malformations. Head abnormalities, recognized through the evaluation of brain and skull structures, accounted for the majority of these observations. We report here on a case of holoprosencephaly, a rare malformation (incidence is around 1/16,000 live births according to Roach et al. [1975]) diagnosed and monitored up to delivery by multiple US examinations.