Resumo

VALERA ANTEQUERA, Danik; MONTEALEGRE PAEZ, Ana Lorena; BERMUDEZ, Antonio  e  GARCIA ROBLES, Reggie. Importance of a Proposal for Implementing an Expanded Neonatal Screening Program in Colombia. Rev. Med [online]. 2019, vol.27, n.2, pp.21-33.  Epub 26-Nov-2022. ISSN 0121-5256.  https://doi.org/10.18359/rmed.4195.

Expanded neonatal screening allows early detection of various inborn errors of metabolism. In Colombia, the conditions to carry out a national program with a high impact on public health are in place. Through a review of the international literature on the subject, this reflection on the implementation of a national neonatal screening program brings forward a complete, concise, detailed proposal for tandem mass spectrometry-expanded neonatal screening in Colombia that conforms to the legislation and the needs and characteristics of the population. Implementing such a national program has a great impact on public health and must be led by the State, with the participation and support of health professionals, academia, patient associations, and the pharmaceutical industry.

Palavras-chave : Neonatal screening; inborn errors of metabolism; public health; child mortality; congenital genetic diseases.

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