Sonographic Detection of Holoprosencephaly With Cyclopia and Proboscis

Abstract

The incidence of holoprosencephaly is about 1 in 10,000 to 20,000 births. There are three major forms: alobar, semilobar, and lobar. The alobar form with cyclopia is very rare. The author describes a transabdominal sonographic diagnosis of an alobar form of holoprosencephaly at 20 weeks’ gestational age. The fetus presented with cyclopia, proboscis, absence of ears and nose, polydactyly, hydrocephalus, macrocephaly, and polyhydramnios. After counseling, termination of pregnancy was performed. Two years later, a subsequent pregnancy was normal.