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Volodyaev, I.* ; Ivanova, A.* ; Korchivaia, E.* ; Surnov, A. ; Pomerantseva, E.* ; Lebedev, I.N.* ; Semenova, M.L.* ; Mazunin, I.*

The chromosomal challenge of human embryos: Prevalence of aneuploidy and mosaicism.

F&S Rev. 6:100082 (2025)
DOI
Chromosomal aberrations, such as whole-chromosome aneuploidies, segmental aneuploidies, whole-chromosome mosaicism, and segmental mosaicism, are key factors influencing embryonic development and the outcomes of fertility programs. This analytic review critically examines the prevalence and origins of these genetic abnormalities, emphasizing the significant maternal contribution to whole-chromosome aneuploidies and the age-related nature of these aberrations. In contrast, segmental aneuploidies, whole-chromosome mosaicism, and segmental mosaicism appear largely age-independent and show considerable variability across studies, mainly due to technical artifacts and methodological differences. By analyzing the accumulated data, scrutinizing methodological discrepancies in preimplantation genetic testing for aneuploidies, and distinguishing between biologic phenomena and artifacts, this review aims to clarify the current understanding of chromosomal aberrations in human embryos and their impact on reproductive health.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Aneuploidy ; Human Embryo ; Mosaicism ; Pgt-a ; Segmental Aneuploidy; Segmental Aneuploidies; In-vitro; Preimplantation; Age; Trophectoderm; Origin; Single; Abnormalities; Resolution; Reveals
Sprache englisch
Veröffentlichungsjahr 2025
Prepublished im Jahr 2024
HGF-Berichtsjahr 2024
ISSN (print) / ISBN 2666-5719
e-ISSN 2666-5719
Zeitschrift F and S Reviews
Quellenangaben Band: 6, Heft: 1, Seiten: , Artikelnummer: 100082 Supplement: ,
Verlag American Society for Reproductive Medicine
Verlagsort Radarweg 29, 1043 Nx Amsterdam, Netherlands
Begutachtungsstatus Peer reviewed
Institut(e) Research Unit Type 1 Diabetes Immunology (TDI)
POF Topic(s) 30201 - Metabolic Health
Forschungsfeld(er) Helmholtz Diabetes Center
PSP-Element(e) G-502191-001
DOI 10.1016/j.xfnr.2024.100082
WOS ID 001389672500001
Scopus ID 85212001523
Erfassungsdatum 2024-12-20
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