Epidemiology of orofacial clefts in Emilia Romagna and Tuscany Regions

Background and aim Epidemiological information gathered through Birth defects surveillance is an important adjunct to carrying out clinical and etiological research. Methods An Italian epidemiological investigation on Orofacialclefts (OFCs) conducted by the Congenital Malformation Registries of Emilia/Romagna (http://www.registroimer.it/) and Tuscany (http://www.rtdc.it/) in the period 2001–2011 identified 751 of OFC cases among 724.944 with an overall birth prevalence of 1.04/1,000. Birth prevalence of OFC variessignificantly in Europe ranging from 6,2 to 22,9 with a European mean value of1,45, showing a clear difference between the north and south of Europe (http://www.eurocat-network.eu/). The complex model of inheritance and the frequently conflicting results in different populations on the role of genes that constitute risk factors, suggest the presence of real biological differences. Results Recorded cases included 166 (22%) CL, 286 (38%) CLP and 299 (40%) CP. A predominance of males among CL (P) (M/F 1,60) and of females among CP (M/F 0,79) as confirmed. Among 751 of OFC cases, 661 were live births (88.0%), 7 stillbirths (0.9%), while 83 (11.1%) were terminations of pregnancy.522 cases (69%) were isolated, 118 cases (16%) OFC were present in recognised condition, and 111 cases (15%) were associated with other congenital malformations (MCA). The study confirmed that cardiovascular (27%), musculoskeletal (21%) and central nervous system (21%) defects are frequently associated. Conclusions Thus a routine screening for other malformations may need to be considered in infants with OFC and a multidisciplinary approach of these patients to be organised starting from birth.