KNOWLEDGE AND LEGAL ASPECTS OF NEONATAL SCREENING IN BRAZIL: ADVANCES IN THE FIELD OF MEDICINE

Abstract

The National Neonatal Screening Program aims to detect suspected cases, confirm diagnoses, and provide follow-up and treatment for congenital diseases. It was launched in 2001 in Brazil and remains active to this day. From a medical perspective, screening procedures must be able to substantially modify the natural history of the disease in a significant portion of the eligible population. This study aims to discuss the knowledge and legal aspects of neonatal screening in light of advancements in the field of medicine in Brazil. It is an integrative literature review. Eight Brazilian studies published between 2020 and 2024 were included. The studies were retrieved from the MEDLINE/PubMed and LILACS databases, accessed via the Virtual Health Library, to address the research question: “What are the legal aspects involved in neonatal screening, and how are they related to advancements in the field of medicine?” Neonatal screening in Brazil shows promising references, although issues such as awareness among parents, knowledge among medical professionals about genetic diseases, and deficiencies in the care pathways within the Health Care Network have emerged over the years. Legislation mandates neonatal screening, highlighting the importance of properly informing mothers, particularly in cases of early hospital discharge. Although coverage is uneven across states, campaigns and new initiatives are needed to ensure equitable access. Healthcare professionals should be trained to perform and interpret the tests, adhering to ethical principles, and an integrated care pathway must be established to ensure continuous and comprehensive assistance. In light of this, it is concluded that medical knowledge and aspects related to the existence and importance of the National Neonatal Screening Program hold potential for further studies.