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Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future
Lavínia Schuler-Faccini1,2,3, Simone de Menezes Karam4, Maria Teresa Vieira Sanseverino5,6
1Graudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil. lschuler@hcpa.edu.br.
Abstract:
Brazil is a middle-income country with approximately 210 million inhabitants, with around 2,900,000 births annually. Besides its extensive territorial area, the country is characterized by huge heterogeneity in many aspects, notably in socioeconomic status, education, access to healthcare, geographic mobility, different biomes, agricultural practices and diverse ethnic ancestry. These characteristics directly impact the frequency and distribution of genetic disorders and Congenital Anomalies (CA), which are the second leading cause of death in the first year of life. In this review, we will present the main initiatives and available information from governmental organs and scientific research in Brazil regarding the epidemiology of congenital anomalies and rare diseases, emphasizing teratogenic risk factors and population medical genetics aspects.
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