Evidence map›Paper›PMID 39932625›Full record

ReviewJournal of community genetics2025

Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.

Lavínia Schuler-Faccini, Simone de Menezes Karam, Maria Teresa Vieira Sanseverino, Marcia Helena Barbian, Julia do Amaral Gomes, João Matheus Bremm, Augusto César Cardoso-Dos-Santos, Claudia Fernandes Lorea, Karina Carvalho Donis, Ricardo Rohweder and 14 more

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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

24 authors.

Lavínia Schuler-Faccini *Graudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil. lschuler@hcpa.edu.br.ORCID https://orcid.org/0000-0002-2428-0460
Simone de Menezes Karam *Faculty of Medicine, Universidade Federal do Rio Grande, Rio Grande, RS, Brazil.
Maria Teresa Vieira SanseverinoGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Marcia Helena BarbianDepartment of Statistics, Institute of Mathematics and Statistics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Julia do Amaral GomesMinistry of Health, Brasília, DF, Brazil.
João Matheus BremmGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Augusto César Cardoso-Dos-SantosMedical Genetics Service, Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Claudia Fernandes LoreaGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Karina Carvalho DonisFaculty of Medicine, Universidade Federal da Paraíba, João Pessoa, RN, Brazil.
Ricardo RohwederGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Laércio Moreira Cardoso-JuniorGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Julia Cavalcante do CarmoGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Paulyana Dos Santos Corecco-MouraGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Fabyanne Guimarães de OliveiraGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Rayhele Rodrigues de OliveiraGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Vânia Mesquita Gadelha PrazeresGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Juliana Herrero da SilvaGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Nitza Ferreira MunizGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Ayoade Desmond BabalolaGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Laysa Kariny KrieckGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Angel Larroza de SouzaGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Emilly de Jesus Garcia AtaídeGraudate Program in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande du Sul (UFRGS), Av. Bento Gonçalves, 95000, Porto Alegre, RS CEP, 91501-970, Brazil.
Lucia Andreia Nunes de OliveiraMedical Genetics Service, Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Giovanny Vinícius de Araújo FrançaMinistry of Health, Brasília, DF, Brazil.

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico 406069/2021-2Coordenação de Aperfeiçoamento de Pessoal de Nível Superior 001Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul 21/2551-0001998-0Ministério da Saúde TED 98/2023
6 · The paper itself

Abstract

Brazil is a middle-income country with approximately 210 million inhabitants, with around 2,900,000 births annually. Besides its extensive territorial area, the country is characterized by huge heterogeneity in many aspects, notably in socioeconomic status, education, access to healthcare, geographic mobility, different biomes, agricultural practices and diverse ethnic ancestry. These characteristics directly impact the frequency and distribution of genetic disorders and Congenital Anomalies (CA), which are the second leading cause of death in the first year of life. In this review, we will present the main initiatives and available information from governmental organs and scientific research in Brazil regarding the epidemiology of congenital anomalies and rare diseases, emphasizing teratogenic risk factors and population medical genetics aspects.

Indexed as

ClustersCongenital abnormalitiesEpidemiologyRare diseasesSurveillanceTeratogen

Identifiers

PMID39932625
PMCPMC12321733

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.