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Manuel Viotti, Ph.D., Andrea R. Victor, M.S., Frank L. Barnes, Ph.D., Christo G. Zouves, M.D., Andria G. Besser, M.S., James A. Grifo, M.D., Ph.D., En-Hui Cheng, Ph.D., Maw-Sheng Lee, M.D., Ph.D., Jose A. Horcajadas, Ph.D., Laura Corti, M.Sc., Francesco Fiorentino, Ph.D., Francesca Spinella, Ph.D., Maria Giulia Minasi, M.Sc., Ermanno Greco, M.D., and Santiago Munné, Ph.D.
Fertility and Sterility, 2021
Abstract
Objective: To study how the attributes of mosaicism identified during preimplantation genetic testing for aneuploidy relate to clinical outcomes, in order to formulate a ranking system of mosaic embryos for intrauterine transfer.
Design: Compiled analysis.
Setting: Multi-center.
Patient(s): A total of 5,561 euploid blastocysts and 1,000 mosaic blastocysts used in clinical transfers in patients undergoing fertility treatment.
Intervention(s): None.
Main outcome measure(s): Implantation (gestational sac), ongoing pregnancy, birth, and spontaneous abortion (miscarriage before 20 weeks of gestation).
Result(s): The euploid group had significantly more favorable rates of implantation and ongoing pregnancy/birth (OP/B) compared with the combined mosaic group or the mosaic group affecting only whole chromosomes (implantation: 57.2% vs. 46.5% vs. 41.8%; OP/B: 52.3% vs. 37.0% vs. 31.3%), as well as lower likelihood of spontaneous abortion (8.6% vs. 20.4% vs. 25%). Whole-chromosome mosaic embryos with level (percent aneuploid cells) <50% had significantly more favorable outcomes than the ≥50% group (implantation: 44.5% vs. 30.4%; OP/B: 36.1% vs. 19.3%). Mosaic type (nature of the aneuploidy implicated in mosaicism) affected outcomes, with a significant correlation between number of affected chromosomes and unfavorable outcomes. This ranged from mosaicism involving segmental abnormalities to complex aneuploidies affecting three or more chromosomes (implantation: 51.6% vs. 30.4%; OP/B: 43.1% vs. 20.8%). Combining mosaic level, type, and embryo morphology revealed the order of subcategories regarding likelihood of positive outcome.
Conclusion(s): This compiled analysis revealed traits of mosaicism identified with preimplantation genetic testing for aneuploidy that affected outcomes in a statistically significant manner, enabling the formulation of an evidence-based prioritization scheme for mosaic embryos in the clinic.
Keywords: IVF; Next-Generation Sequencing; embryo; mosaicism; preimplantation genetic testing
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