Evidence map›Paper›PMID 39792349›Full record

ReviewJournal of community genetics2025

Newborn screening in Brazil: realities and challenges.

Carolina Fischinger Moura de Souza, Tássia Tonon, Thiago Oliveira Silva, Tania A S S Bachega

Abstract readReview
In one paragraph

Review in Journal of community genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Article
  2. Genetic landscape of phenylketonuria in Brazil.Orphanet journal of rare diseases · 2026
    Article
  3. A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil.International journal of environmental research and public health · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Carolina Fischinger Moura de SouzaHospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Tássia TononCasa dos Raros, Porto Alegre, Brazil.
Thiago Oliveira SilvaServiço de Referência em Triagem Neonatal da Paraíba, João Pessoa, Brazil.
Tania A S S BachegaLaboratório de Hormônios e Genética Molecular-LIM42, Disc de Endocrinologia do Hospital das Clínicas, da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. tbachega@usp.br.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

BrazilGenetic disordersNational neonatal screening programNeonatal screeningPublic health

Identifiers

PMID39792349
PMCPMC12321699

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.