Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts

Abstract

The World Health Organization (WHO) acknowledges that cleft lips and (or) palates (CL+/-P) require investment in public policies, given the high prevalence (about 1:600-1000 newborns), the presence of comorbidities and the prolonged treatment (WHO, 2002). WHO also pointed the importance of genetics evaluation and counseling (WHO, 2002). Most cleft cases are non-syndromic and have multifactorial inheritance. Also, there are around 600 syndromic clefts, in which Deletion 22q11.2 is the most prevalent among cleft palate individuals. In order to plan the health attention for cleft individuals, it would be necessary information about clinical presentation and natural history and identification of population factors of risk. This research team developed, in cooperation with World Health Organization the Brazilian Database on Orofacial Clefts (BDOC), which have been in activity since 2008 in 08 different centers. The advantages of different laboratorial techniques in genetics are also part of studies of this researches and it was designed an algorithm for investigation of 22q11.2 deletion syndrome, as well. Both results are applicable on Brazilian public health system. The aims of this Project are: 1. To improve the registries on BDOC 2. To perform laboratorial diagnostic for cleft individuals. 3. To test cost-effectiveness techniques for diagnosis of 22q11.2 deletion syndrome. The results would contribute to identify prevalent etiologies for clefts, to improve collaborative network of genetics investigation and to define guidelines for health policy for cleft individuals in Brazil. (AU)