Global research trends in embryonic mosaicism and mosaic embryo transfer: a bibliometric and science-mapping analysis

Embryonic mosaicism has emerged as a clinically significant topic in assisted reproductive technologies following the widespread adoption of preimplantation genetic testing for aneuploidy (PGT-A). This study aimed to characterize the global research landscape, identify major contributors, and delineate emerging thematic trends in mosaic embryo research using bibliometric and science mapping approaches.

We conducted a bibliometric and science mapping analysis of original research articles and reviews published between 1990 and 2025 that focused on embryonic mosaicism, mosaic embryos, mosaic embryo transfer, or PGT-A-related mosaicism in reproductive medicine. Publication trends, citation impact, collaboration networks, and thematic evolution were analyzed using Bibliometrix and VOSviewer.

We included 394 eligible original research and review articles on embryonic mosaicism, mosaic embryo transfer, or PGT-A-related mosaicism in reproductive medicine, revealing a marked acceleration in research activity after 2015. The United States led in both publication volume (n = 92 corresponding-author publications) and total citation impact (4,406 citations), while the Netherlands demonstrated the highest citation efficiency (105.3 citations/publication). The University of Kent led in institutional productivity (16 publications), while the University of Oxford demonstrated the highest per-paper citation impact (112.1 citations/publication). Three thematic clusters-cytogenetic characterization, NGS-based genomic diagnostics, and clinical outcomes-were consistently identified across keyword co-occurrence, co-citation, and bibliographic coupling analyses, with recent trends toward non-invasive PGT-A and artificial intelligence signaling an emerging fourth domain.

This bibliometric analysis of 394 publications spanning 36 years demonstrates sustained, accelerating growth in research output since 2015, driven by the clinical adoption of NGS-based PGT-A and the subsequent dissemination of major professional society guidelines. The field has evolved from cytogenetic characterization to a clinically integrated discipline that directly informs embryo selection and IVF decision-making. Significant knowledge gaps persist regarding mosaicism thresholds, self-correction mechanisms, and long-term neonatal outcomes, underscoring the need for prospective registries and standardized reporting frameworks.