[Prenatal diagnosis of holoprosencephaly with postaxial polydactyly, cardiopathy with normal karyotype].

Holoprosencephaly is a malformation complex, in which the foetal forebrain (prosencephalon) fails to cleave. The aetiology of holoprosencephaly is heterogeneous. In the last years, a new malformation syndrome has been described, including holoprosencephaly, postaxial polydactyly, congenital heart defects and normal karyotype. In this report, a new case of this syndrome, prenatally diagnosed, is discussed, based on ultrasound and foetal blood sampling. The important implications are pointed out in relation to adequate genetic counselling.