Journal of Inherited Metabolic Disease

, Volume 30, Issue 4, pp 615–615

Newborn screening: A national public health programme in Brazil


    • Technical Advisory Committee in Newborn Screening, Attention DepartmentHealth Ministry Rua Barão do Triunfo
  • H. Pimentel dos Santos
    • Technical Advisory Committee in Newborn Screening, Specialized Attention DepartmentHealth Ministry
  • I. C. G. P. dos Santos
    • Science and Technology DepartmentHealth Ministry
  • P. R. Vargas
    • Technical Advisory Committee in Newborn Screening, Specialized Attention DepartmentHealth Ministry
  • J. Pedrosa
    • Attention DepartmentHealth Ministry
Newborn Screening – Short Report

DOI: 10.1007/s10545-007-0650-7

Cite this article as:
Marini de Carvalho, T., Pimentel dos Santos, H., dos Santos, I.C.G.P. et al. J Inherit Metab Dis (2007) 30: 615. doi:10.1007/s10545-007-0650-7


The newborn screening programme started in Brazil (1976) through isolated initiatives, without governmental directions and/or policies. According to Health Ministry (2000) data the coverage was 55% and unevenly distributed. Only 17 out of 27 Brazilian states had more than 30% coverage. Public budgets covered only diagnostic examinations. There were no official data about assistance, patient follow-up or detected disorders. The creation of the National Programme (2001) has provided new perspective for newborn screening (NBS) in the public health system. It has provided important official data and established management and care units for each state: Reference Services in Newborn Screening. The programme screened about 13 million newborns from October 2001 to December 2005. The coverage increased to 80.2% (2005) and 74% of the states presented coverage of over 70%. Within 34 accredited Reference Services in 27 Brazilian states, all provide screening for PKU and CH. Ten of them provide screening for haemoglobinopathies as well, and three of them provide also for CF. The Reference Services altogether count on at least 170 health professionals, such as paediatricians, endocrinologists, nutritionists, psychologists and social workers. They are qualified to assist positive cases, within the policies established by the National Programme. There has been significant increase in NBS coverage and follow-up assuredness, including detected cases before the National Programme (10 935 positive cases) mostly in those regions where the programme did not exist. There has been significant evolution in the Newborn Screening as a Public Health Program in Brazil due to the government's commitment (federal and each component state).

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© SSIEM and Springer 2007