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Global research trends in embryonic mosaicism and mosaic embryo transfer: a bibliometric and science-mapping analysis
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DOI：10.3389/fmed.2026.1860968.png)
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Abstract
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BackgroundEmbryonic 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.MethodsWe 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.ResultsWe 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.ConclusionThis 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.
Keywords:
bibliometric analysis
next-generation sequencing
science mapping
preimplantation genetic testing for aneuploidy (PGT-A)
embryonic mosaicism
mosaic embryo transfer
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3
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2.1W
Citations:
4.0W
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