Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%. Both genetic and environmental factors, as well
as their combination in a multifactorial contest, may induce congenital defects. Congenital malformations may be classi-
fied on the basis of clinical, etiologic as well as pathogenetic criteria. Relevant diagnostic and therapeutic tools have been progressively improving in the last decades, contributing to a better identification and a reduction of long-term morbidity and mortality of these patients. A correct identification of a congen- ital defect is the first step in order to offer a helpful genetic coun- seling to the parental couple. Because of their increasing life expectancy, congenital malformations represent today a major issue in the health services for the amount of resources they need for the requested multidisciplinary assistance
