[Development of neural tube defects and genetic counseling]

Abstract

The analysis of thirty-seven cases of neural tube defects (NTD) resulted in the following conclusions: a) At least eleven cases had the Arnold-Chiari malformation, an autosomal recessive disorder which often remains unrecognized; b) Trisomy 18 and amniotic disease associated with NTD were diagnosed in two newborns; c) In eight cases there was one or more older children with NTD; d) In two families the parents were related. A review of the literature and the exposed data indicate a heterogeneous etiology and an important role of genetic factors in the genesis of NTD.