ArticleJournal of assisted reproduction and genetics2025
Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo.
Article in Journal of assisted reproduction and genetics, 2025. 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
backgroundEarly pregnancy loss is frequently associated with fetal chromosomal abnormalities, trisomy being the most common cause, especially during the first trimester. A notable phenomenon in such cases is trisomy rescue where the loss of an extra chromosome during mitotic division can result in mosaicism, a condition characterized by the presence of genetically distinct cell populations within the same embryo. Trisomy rescue may occur in more than one chromosome, a rare phenomenon known as double trisomy rescue. On the other hand, parallel rescue is a process where, if a trisomic zygote carries an abnormal chromosome, it must be corrected twice in parallel, losing the normal and the abnormal chromosomes separately. Taken together, these complex and rare phenomena highlight the fact that cellular rescue mechanisms in aneuploid cell divisions remain poorly understood and challenging to characterize, particularly given the high rate of mitotic errors during early embryogenesis. CASE PRESENTATION: A couple underwent in vitro fertilization (IVF) and the pregnancy ended at 8 weeks of gestation due to spontaneous loss of fetal cardiac activity. Genetic tests revealed a complex mosaic chromosomal profile including both segmental copy number variations (CNV) and whole-chromosome aneuploidies.
conclusionThis study investigates the complexity of chromosomal mosaicism in early pregnancy loss, focusing on the potential involvement of both meiotic and postzygotic mitotic errors. This case report aims to identify molecular mechanisms that may underlie combined segmental and whole-chromosome abnormalities in an embryo, thereby enhancing our understanding of molecular mechanisms in early pregnancy loss and its potential implications for clinical outcomes, including implantation failure and miscarriage.
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