Congenital Malformations

Congenital Malformations (CMs) are defects of shape or structure of an organ, developed during the embryonic or foetal period. Heterogeneity of phenotype and etiopathogenesis is relevant both among and within groups of CMs. A single CM can have an occurrence ranging between 1/100 births for cardiac anomalies, 1/3,000-5,000 births for diaphragmatic hernia or bilateral renal agenesis, and 1/20,000 births for gastroschisis; all CMs account for 3-5% of newborns, according to ability and modality of diagnostic ascertainment, exclusion/inclusion criteria and maximum age at diagnosis. An occurrence of around 2% is estimated considering only structural defects diagnosed within the first week of life (www.eurocat-network.eu). Since the 70's, following the thalidomide tragedy, many registry-based surveillance systems were activated worldwide. In Italy, registrations began in Emilia Romagna and Tuscany at the end of the 70's. In 2008 the Tuscany Registry of Congenital Defects (RTDC) was officially defined as a 'disease registry of relevant health interest'. About 95% of births and pregnancy terminations involving those resident in Tuscany are registered in the RTDC. In 2011, 616 cases with CM out of 30,181 births were registered, with a prevalence of 2.04/100 births (www.rtdc.it).