Cenário e perspectiva da triagem neonatal no Brasil

Abstract

Biological Neonatal Screening, also popularly known as the “Guthrie test”, was implemented in Brazil in 1992 with the aim of early detection of metabolic, genetic, enzymatic and endocrinological diseases in newborns, enabling appropriate treatment associated with them. In 2001, the National Neonatal Screening Program for the diseases: phenylketonuria, congenital hypothyroidism, sickle cell disease and other hemoglobinopathies and cystic fibrosis was established in the Unified Health System (SUS). Later, in 2012, the diseases congenital adrenal hyperplasia and biotinidase deficiency were included in the scope of this Program. In May 2021, a federal law 14,154 was sanctioned, increasing the number of pathologies detected, totaling 50 pathologies. The objective of this work was to analyze, through an integrative review, what has been published in the scientific literature in the last five years about biological neonatal screening. In July 2023, 9 articles were selected using the databases available on the Health Department Platform “Biblioteca Virtual de Saúde”, using the descriptors: Neonatal screening (title) “AND NOT” Hearing screening (title). The inclusion criteria were scientific articles published between 2018 and 2023, in Portuguese and English language, with biological neonatal screening as its main subject. The results reveal that health education and projects to encourage neonatal screening have shown positive results, increasing parents' adherence and understanding of its importance. Furthermore, the prevalence of diseases diagnosed in newborn screening varies by region, highlighting the importance of allocating resources and specific care strategies for each area. However, effectively carrying out newborn screening faces challenges, including errors in the collection of biological material, lack of standardization in procedures and the need for a unified registration system across the country. Regionalization of screening is essential to adapt programs to local realities. Therefore, the effectiveness of neonatal screening and its availability to the population depend, to a large extent, on committed and efficient public management, which promotes investments, standardization of procedures and coordinated actions throughout the country.