Newborn screening in Brazil: realities and challenges

Abstract

Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program. Our findings indicate significant improvements in national screening coverage; however, notable disparities persist among different regions. States such as São Paulo, Minas Gerais, Paraná, Santa Catarina, and Brasilia (Federal District) demonstrate high efficiency and coverage rates, while Northern regions continue to face challenges. This study discusses the implications of these disparities and emphasizes the need for continuous efforts to achieve universal and effective neonatal screening across Brazil. The findings underscore the importance of enhancing health policies and resource allocation to ensure timely diagnosis and intervention for all newborns nationwide.

Keywords: Brazil; Genetic disorders; National neonatal screening program; Neonatal screening; Public health.

Fig. 1

National Program of Newborn Screening in Brazil, percentage of coverage in each state in 2021. NI not informed

Fig. 2

Coverage of the National Neonatal Screening Program. Adapted from Brazil (2021)

Fig. 3

Percentage of samples collected until the 5th day of life in recent years and Newborn’s age (in days) at the first medical appointment (median). Adapted from Brasil (2021a)