Bibliometric Analysis of Publications on Prenatal Genetic Screening Using Cell-Free DNA.

Prenatal genetic testing plays a vital role in the early detection of fetal chromosomal abnormalities, with cell-free DNA (cfDNA) testing emerging as a highly accurate noninvasive screening method. By analyzing fetal DNA fragments in maternal plasma, cfDNA-based tests have significantly improved the detection of conditions such as trisomies.  Bibliometric analysis is a quantitative research method used to evaluate publication trends, citation patterns, and research impact within a specific scientific field. By analyzing bibliographic data, it provides insights into scholarly productivity, influential works, and collaboration networks, helping to identify key developments and emerging research areas. This bibliometric analysis provides a comprehensive overview of publication patterns and impacts in the field of prenatal genetic screening with cfDNA between 1991 and 2024. This study examined research articles and reviews on cfDNA used in prenatal genetic screening in English-language literature published between 1991 and May 1, 2024. The study analyzed various parameters, including top published institutions, countries, journals, citations, and funding organizations. Data was collected from the Web of Science bibliometric database using Medical Subject Headings (MeSH) keywords related to the research topic and gathered for analyzing publications and citations. VOSviewer (Centre for Science and Technology Studies (CWTS), Leiden University, the Netherlands) was used for co-authorship among top published organizations and countries and for keyword analyses. The study included 2272 publications on cfDNA revealing a diverse range of topics, with chromosome disorders being the most common. The majority of publications in the literature were published in journals indexed in the Science Citation Index Expanded (SCIE). The top five countries in global research contributions were the United States, China, England, Italy, and the Netherlands. The top organizations/universities contributing to these publications included the Chinese University of Hong Kong, BGI Shenzhen, Baylor College of Medicine, and Tufts University. Keyword analysis revealed a vast array of keywords, with "prenatal diagnosis" dominating the discourse. Top journals on cfDNA publications include Prenatal Diagnosis (269 publications), Clinical Chemistry (78 publications), and the American Journal of Obstetrics and Gynecology (72 publications), making them the leading platforms for research dissemination in this field. This bibliometric analysis highlights the growing impact of cfDNA-based prenatal genetic screening, revealing key contributors, influential studies, and research trends shaping the field. The findings underscore the significant role of cfDNA technology in improving noninvasive prenatal testing and guiding future research directions in this domain.