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Purpose <p>To investigate the incidence of mosaic embryos and identify factors influencing their occurrence.</p> Methods <p>In this retrospective cohort study, 5168 blastocysts from patients who underwent preimplantation genetic testing were analyzed. Mosaic embryos were further analyzed based on mosaic classification, number of affected chromosomes, degree of mosaicism, and chromosomal distribution patterns. To assess the factors influencing mosaicism, a generalized estimating equation (GEE) model was utilized.</p> Results <p>Mosaic embryos accounted for 23.53% of all blastocysts, with aneuploid–aneuploid mosaics (59.29%) being more prevalent than euploid–aneuploid mosaics (40.71%). Whole-chromosome and segmental mosaicism occurred at comparable frequencies, with single-chromosome mosaicism being the most common. High-level mosaicism was slightly more frequent than low-level mosaicism. The GEE model analysis revealed that the blastocyst biopsy day, embryo quality, and ovarian stimulation protocol were independent factors significantly associated with the occurrence of mosaic embryos. Specifically, the GnRH antagonist protocol, good embryo quality, and D5 blastocyst biopsy day were associated with a lower risk of mosaicism. Clinical pregnancy, miscarriage, and live birth rates did not differ significantly between mosaic and euploid embryos (<i>p</i> &gt; 0.05). However, embryos with lower mosaicism levels exhibited a trend toward higher clinical pregnancy and live birth rates.</p> Conclusion <p>Mosaic embryo occurrence is influenced by the biopsy timing, embryo quality, and ovarian stimulation protocols. Mosaic embryos, particularly those with lower mosaicism levels, retain clinical value and may be considered for transfer when euploid embryos are unavailable. These findings support the need for individualized embryo-transfer strategies based on mosaicism proportions and patient-specific factors.</p>

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Influencing factors and clinical significance of mosaic embryos in preimplantation genetic testing

  • 期刊论文

  • 发表日期：

    2026年2月17日

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  • Xiaojun Wen,
  • Zhiming Li,
  • Xiaowu Fang,
  • Ang Chen,
  • Xiangqiong Zheng,
  • Xiaoli Lin,
  • Zhanhui Ou,
  • Junye Huo,
  • Lizi Cheng,
  • Nengqing Liu,
  • Jieliang Li,
  • Xiufeng Lin

摘要

Purpose

To investigate the incidence of mosaic embryos and identify factors influencing their occurrence.

Methods

In this retrospective cohort study, 5168 blastocysts from patients who underwent preimplantation genetic testing were analyzed. Mosaic embryos were further analyzed based on mosaic classification, number of affected chromosomes, degree of mosaicism, and chromosomal distribution patterns. To assess the factors influencing mosaicism, a generalized estimating equation (GEE) model was utilized.

Results

Mosaic embryos accounted for 23.53% of all blastocysts, with aneuploid–aneuploid mosaics (59.29%) being more prevalent than euploid–aneuploid mosaics (40.71%). Whole-chromosome and segmental mosaicism occurred at comparable frequencies, with single-chromosome mosaicism being the most common. High-level mosaicism was slightly more frequent than low-level mosaicism. The GEE model analysis revealed that the blastocyst biopsy day, embryo quality, and ovarian stimulation protocol were independent factors significantly associated with the occurrence of mosaic embryos. Specifically, the GnRH antagonist protocol, good embryo quality, and D5 blastocyst biopsy day were associated with a lower risk of mosaicism. Clinical pregnancy, miscarriage, and live birth rates did not differ significantly between mosaic and euploid embryos (p > 0.05). However, embryos with lower mosaicism levels exhibited a trend toward higher clinical pregnancy and live birth rates.

Conclusion

Mosaic embryo occurrence is influenced by the biopsy timing, embryo quality, and ovarian stimulation protocols. Mosaic embryos, particularly those with lower mosaicism levels, retain clinical value and may be considered for transfer when euploid embryos are unavailable. These findings support the need for individualized embryo-transfer strategies based on mosaicism proportions and patient-specific factors.