Which type of chromosomal mosaicism is compatible for embryo transfer: a systematical review and meta-analysis

Ma, Yuanlin; Liu, Lok-Wan; Liu, Yongxiang; Shi, Gaohui; Ai, Xixiong; Hou, Wei; Mai, Qingyun; Xu, Yanwen

doi:10.1007/s00404-022-06511-6

Cited by 5 publications

(1 citation statement)

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“…This view is supported by several systematic reviews and metaanalyses that have used the Newcastle-Ottawa scale to assess the quality of non-randomized studies (Mourad et al, 2021;Ma et al, 2022). Importantly, these studies agree that transferring a mosaic embryo entails a low risk of confirming the abnormal karyotype in the ensuing pregnancy.…”

Section: Introductionmentioning

confidence: 86%

Mosaic results after preimplantation genetic testing for aneuploidy may be accompanied by changes in global gene expression

Martin¹,

Mercader

Domı́nguez³

et al. 2023

Front. Mol. Biosci.

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Aneuploidy in preimplantation embryos is a major cause of human reproductive failure. Unlike uniformly aneuploid embryos, embryos diagnosed as diploid-aneuploid mosaics after preimplantation genetic testing for aneuploidy (PGT-A) can develop into healthy infants. However, the reason why these embryos achieve full reproductive competence needs further research. Current RNA sequencing techniques allow for the investigation of the human preimplantation transcriptome, providing new insights into the molecular mechanisms of embryo development. In this prospective study, using euploid embryo gene expression as a control, we compared the transcriptome profiles of inner cell mass and trophectoderm samples from blastocysts with different levels of chromosomal mosaicism. A total of 25 samples were analyzed from 14 blastocysts with previous PGT-A diagnosis, including five low-level mosaic embryos and four high-level mosaic embryos. Global gene expression profiles visualized in cluster heatmaps were correlated with the original PGT-A diagnosis. In addition, gene expression distance based on the number of differentially expressed genes increased with the mosaic level, compared to euploid controls. Pathways involving apoptosis, mitosis, protein degradation, metabolism, and mitochondrial energy production were among the most deregulated within mosaic embryos. Retrospective analysis of the duration of blastomere cell cycles in mosaic embryos revealed several mitotic delays compared to euploid controls, providing additional evidence of the mosaic status. Overall, these findings suggest that embryos with mosaic results are not simply a misdiagnosis by-product, but may also have a genuine molecular identity that is compatible with their reproductive potential.

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Section: Introductionmentioning

confidence: 86%