ArticleFrontiers in endocrinology2026
Impact of low-level sex chromosome mosaicism (<10%) on clinical outcomes of first fresh embryo transfer: a propensity score-matched retrospective cohort study.
Article in Frontiers in endocrinology, 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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Abstract
Background: Low-level sex chromosome mosaicism (SCM; abnormal cell proportion <10%) is frequently detected during preconception karyotype screening, yet its clinical relevance in assisted reproductive technology (ART) remains controversial. This study aimed to determine whether low-level SCM affects clinical outcomes in the first fresh embryo transfer cycle. Methods: This single-center retrospective cohort study included 3,216 infertile patients undergoing their first Results: After PSM, the vast majority of covariates achieved excellent balance with standardized mean differences (SMD) < 0.1. No significant differences were observed between the SCM and control groups in live birth rate (34.39% vs. 40.75%), clinical pregnancy rate (45.25% vs. 49.72%), or early miscarriage rate (20.00% vs. 16.44%). Multivariable logistic regression showed no independent association between SCM status and live birth (aOR 0.890, 95% CI 0.633-1.252, P = 0.503) or clinical pregnancy (aOR 0.915, 95% CI 0.661-1.266, P = 0.591). Female age was the only consistently significant predictor: each additional year reduced live birth odds by 12.8% (aOR 0.872, 95% CI 0.824-0.923, P < 0.001) and clinical pregnancy odds by 9.7% (aOR 0.903, 95% CI 0.856-0.952, P < 0.001). Age-stratified analysis across four subgroups (<35, 35-37, 38-40, and >40 years) demonstrated consistent null results, with absolute differences remaining below 5 percentage points and parallel declining trends across strata. Conclusion: Low-level sex chromosome mosaicism (<10%) does not significantly affect live birth rate, clinical pregnancy rate, or early miscarriage rate in the first fresh ART transfer cycle, with consistent null findings across all age strata. Female age remains the predominant determinant of ART outcomes. These findings provide robust evidence-based guidance for clinical management and genetic counseling of infertile patients with low-level sex chromosome mosaicism.
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