[Evolution of the neonatal screening program in the state of Tocantins]

Lucas Corrêa Mendes1, Taides Tavares dos Santos, Fabiana de Andrade Bringel

  • 1Faculdade de Ciências Humanas, Econômicas e da Saúde de Araguaína, Instituto Tocantinense Presidente Antônio Carlos (FAHESA/ITPAC), Araguaína, TO, Brasil.

Insights

Neonatal screening in Tocantins improved coverage significantly, but delays in sample collection and treatment initiation for phenylketonuria (PKU) and congenital hypothyroidism (CH) require further attention and government support.

Area of Science:

  • Public Health
  • Pediatrics
  • Genetics

Background:

  • The Neonatal Screening Program (NSP) is crucial for early detection of metabolic and endocrine disorders in newborns.
  • Evaluating the NSP's effectiveness in Tocantins provides insights into regional public health program implementation.

Purpose of the Study:

  • To assess the performance and outcomes of the Neonatal Screening Program in Tocantins, Brazil, between 1995 and 2011.
  • To identify areas for improvement in the screening and management of phenylketonuria (PKU) and congenital hypothyroidism (CH).

Main Methods:

  • A mixed-methods approach was used, including interviews with service providers and parents/guardians.
  • Medical records of patients diagnosed with PKU and CH within the program were analyzed.

Main Results:

  • Program coverage expanded from 32.3% to 76.6% following the National Newborn Screening Program (PNTN) implementation.
  • Prevalence rates for PKU and CH were 1:28,309 and 1:4,632 live births, respectively.
  • Mean ages for initial blood sample collection and treatment initiation exceeded recommended guidelines for both PKU and CH.

Conclusions:

  • Despite progress, the Neonatal Screening Program in Tocantins requires enhanced government funding and strategic development to reach its full potential.
  • Optimizing the timeliness of diagnosis and treatment initiation is essential for improving outcomes for newborns screened for PKU and CH.
Abstract

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