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<p>Brazil is a middle-income country with approximately 210&#xa0;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.</p>

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Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges

  • 期刊论文

  • 发表日期：

    2025年2月11日

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  • Lavínia Schuler-Faccini,
  • Simone de Menezes Karam,
  • Maria Teresa Vieira Sanseverino,
  • Marcia Helena Barbian,
  • Julia do Amaral Gomes,
  • João Matheus Bremm,
  • Augusto César Cardoso-dos-Santos,
  • Claudia Fernandes Lorea,
  • Karina Carvalho Donis,
  • Ricardo Rohweder,
  • Laércio Moreira Cardoso-Junior,
  • Julia Cavalcante do Carmo,
  • Paulyana dos Santos Corecco-Moura,
  • Fabyanne Guimarães de Oliveira,
  • Rayhele Rodrigues de Oliveira,
  • Vânia Mesquita Gadelha Prazeres,
  • Juliana Herrero da Silva,
  • Nitza Ferreira Muniz,
  • Ayoade Desmond Babalola,
  • Laysa Kariny Krieck,
  • Angel Larroza de Souza,
  • Emilly de Jesus Garcia Ataíde,
  • Lucia Andreia Nunes de Oliveira,
  • Giovanny Vinícius de Araújo França

摘要

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.