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Cited by 269

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Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial

Open access
Capalbo, Antonio, Poli, Maurizio, Rienzi, Laura, Girardi, Laura, Patassini, Cristina, Fabiani, Marco, Cimadomo, Danilo, Benini, Francesca, Farcomeni, Alessio, Cuzzi, Juliana, Rubio, Carmen, Albani, Elena, Sacchi, Laura, Vaiarelli, Alberto, Figliuzzi, Matteo, Findikli, Necati, Coban, Onder, Boynukalin, Fazilet K., Vogel, Ivan, Hoffmann, Eva, Livi, Claudia, Levi-Setti, Paolo E., Ubaldi, Filippo M., Simón, Carlos·2021·The American Journal of Human Genetics

Abstract

Chromosome imbalance (aneuploidy) is the major cause of pregnancy loss and congenital disorders in humans. Analyses of small biopsies from human embryos suggest that aneuploidy commonly originates during early divisions, resulting in mosaicism. However, the developmental potential of mosaic embryos remains unclear. We followed the distribution of aneuploid chromosomes across 73 unselected preimplantation embryos and 365 biopsies, sampled from four multifocal trophectoderm (TE) samples and the inner cell mass (ICM). When mosaicism impacted fewer than 50% of cells in one TE biopsy (low-medium mosaicism), only 1% of aneuploidies affected other portions of the embryo. A double-blinded prospective non-selection trial (NCT03673592) showed equivalent live-birth rates and miscarriage rates across 484 euploid, 282 low-grade mosaic, and 131 medium-grade mosaic embryos. No instances of mosaicism or uniparental disomy were detected in the ensuing pregnancies or newborns, and obstetrical and neonatal outcomes were similar between the study groups. Thus, low-medium mosaicism in the trophectoderm mostly arises after TE and ICM differentiation, and such embryos have equivalent developmental potential as fully euploid ones.

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Metadata

Authors
Capalbo, A., Poli, M., Rienzi, L., Girardi, L., Patassini, C., Fabiani, M., Cimadomo, D., Benini, F., Farcomeni, A., Cuzzi, J., Rubio, C., Albani, E., Sacchi, L., Vaiarelli, A., Figliuzzi, M., Findikli, N., Coban, O., Boynukalin, F. K., Vogel, I., Hoffmann, E., Livi, C., Levi-Setti, P. E., Ubaldi, F. M., & Simón, C.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2021-12
Volume
108
Issue
12
Pages
2238-2247
ISSN
0002-9297 (ISSN-L)
OpenAlex
W3214571675
Cited by
269
References
23
FWCI
38.07
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial. https://app.cochat.ai/papers/10.1016/j.ajhg.2021.11.002
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Capalbo, A., Poli, M., Rienzi, L., Girardi, L., Patassini, C., Fabiani, M., Cimadomo, D., Benini, F., Farcomeni, A., Cuzzi, J., Rubio, C., Albani, E., Sacchi, L., Vaiarelli, A., Figliuzzi, M., Findikli, N., Coban, O., Boynukalin, F. K., Vogel, I., . . . Simón, C. (2021). Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2021.11.002

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.