Global scientific production on newborn bloodspot screening: bibliometric analysis of the evolution and epidemiological and thematic trends (1975–2024)

Abstract

Objective: To analyze the evolution and epidemiological and thematic trends of global scientific publications on newborn bloodspot screening from 1975 to 2024, with particular attention to screening program coverage and cross-sectional studies.

Methods: An exploratory and descriptive bibliometric study. Web of Science, PubMed/MEDLINE, Scopus, and SciELO were searched. The quantitative analysis was based on Web of Science records processed using Bibliometrix, while keyword co-occurrence networks and term co-occurrence networks derived from titles and abstracts were constructed using VOSviewer.

Results: A total of 931 documents from 146 publication sources were analyzed, with an annual growth rate of 4.05%. The United States accounted for the largest number of publications, followed by Italy, France, the United Kingdom, and Brazil. The keyword network comprised 117 terms grouped into seven clusters, highlighting congenital hypothyroidism, newborn screening, and diagnosis. The title and abstract network included 195 terms distributed across four clusters, emphasizing genetic alterations, congenital adrenal hyperplasia, and cystic fibrosis. Epidemiological and program evaluation terms were less frequent in the selected networks.

Conclusions: Scientific production increased over the study period and covered a diverse range of topics, with a predominance of clinical, diagnostic, and molecular approaches. The findings highlight the importance of further research on screening coverage, access, regional inequalities, and the performance of newborn screening programs.