The prevalence of aneuploid cells in miscarried human embryos is higher than previously quoted. Genomic imbalances seem to be less tolerated in the embryoblast than the trophoblast, which indicates that allocation of aneuploid cells to the inner cell mass during blastocyst formation might have a detrimental effect on embryo development.
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References
Quenby, S. et al. Miscarriage matters: the epidemiological, physical, psychological, and economic costs of early pregnancy loss. Lancet 397, 1658–1667 (2021). A review article that describes the state of the field for early pregnancy losses, and their clinical, psychological and socioeconomic impact.
Vanneste, E. et al. Chromosome instability is common in human cleavage-stage embryos. Nat. Med. 15, 577–583 (2009). This study describes chromosome instability and a few mechanisms that can lead to complex embryonic genome imbalances in greater detail.
Zamani Esteki, M. et al. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am. J. Hum. Genet. 96, 894–912 (2015). The first study to describe haplarithmisis for single-cell genomic analyses, revealing haplotype anomalies in human preimplantation embryos and describing translation of haplarithmisis into the clinic.
Zamani Esteki, M. et al. In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages. Nat. Med. 25, 1699–1705 (2019). This study compared large CNVs (>100 kilobase pairs) detected by haplarithmisis in IVF and naturally conceived neonates, and showed that most of the large CNVs are present in placenta only.
Lebedev, I. Mosaic aneuploidy in early fetal losses. Cytogenet. Genome Res. 133, 169–183 (2011). A review article describing the cytogenetic mechanisms of tissue-specific origin and compartmentalization of aneuploid mosaic cell lines in human miscarriages.
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This is a summary of: Essers, R. et al. Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss. Nat. Med. https://doi.org/10.1038/s41591-023-02645-5 (2023).
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The effect of embryonic genome imbalances on pregnancy. Nat Med 29, 3014–3015 (2023). https://doi.org/10.1038/s41591-023-02687-9
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DOI: https://doi.org/10.1038/s41591-023-02687-9