ReviewJournal of assisted reproduction and genetics2026
Current gene panels for female infertility: gaps between evidence and clinical application.
Review in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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Abstract
Substantial challenges persist in defining the genetic etiology of female infertility, as new gene-disease associations frequently lack robust validation. This review analyzes the application of recent evidence-based frameworks to female infertility and compares three commercial gene panels. Our analysis revealed minimal overlap, with only 26 genes shared across all panels, indicating a lack of consensus driven more by proprietary criteria than standardized evidence. This discordance may have direct clinical consequences. The inclusion of not-validated or low-evidence genes elevates the risk of incorrect molecular diagnosis, whereas the omission of validated genes can lead to false-negative diagnoses. We conclude that the field requires standardized guidelines and international collaboration to establish a dynamically updated, evidence-based gene list. This is essential for improving diagnostic accuracy, clarifying clinical interpretation, and enabling personalized reproductive medicine.
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