Evidence map›Paper›PMID 41703376›Full record

ArticleJournal of assisted reproduction and genetics2026

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

Xiaojun Wen, Zhiming Li, Xiaowu Fang, Ang Chen, Xiangqiong Zheng, Xiaoli Lin, Zhanhui Ou, Junye Huo, Lizi Cheng, Nengqing Liu and 2 more

Abstract read
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Article 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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5 · Who and what money

Authors and funding

12 authors.

Xiaojun WenReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Zhiming LiReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Xiaowu FangReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Ang ChenReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Xiangqiong ZhengReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Xiaoli LinReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Zhanhui OuReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Junye HuoReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Lizi ChengReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Nengqing LiuReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Jieliang LiReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China.
Xiufeng LinReproductive Medicine Center, Boai Hospital of Zhongshan, 6 Chenggui Road, East District, Zhongshan, 528400, China. zsboai2014@163.com.ORCID http://orcid.org/0009-0008-3922-0576

Funding

Social Welfare and Basic Research Project of Zhongshan 2022B1002Social Welfare and Basic Research Project of Zhongshan 2023B1062
6 · The paper itself

Abstract

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

methodsIn 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.

resultsMosaic 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.

conclusionMosaic 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.

Indexed as

BlastocystGenetic TestingMosaicismPreimplantation DiagnosisAbortion, SpontaneousAdultAneuploidyEmbryo TransferFemaleFertilization in VitroHumansLive BirthPregnancyPregnancy RateRetrospective StudiesClinical outcomeEmbryo transferMosaic embryoPreimplantation genetic testingRisk factor

Identifiers

PMID41703376
PMCPMC13103056

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