The chromosomal challenge of human embryos: prevalence of aneuploidy and mosaicism

F&S reviews Pub Date : 2024-11-16 DOI:10.1016/j.xfnr.2024.100082

Ilya Volodyaev Ph.D. , Anna Ivanova M.Sc. , Elena Korchivaia M.Sc. , Alexey Surnov Ph.D. , Ekaterina Pomerantseva M.D., Ph.D. , Igor N. Lebedev M.D., Ph.D., Dr.Biol.Sc. , Maria L. Semenova Ph.D., Dr.Biol.Sc. , Ilya Mazunin Ph.D.

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Abstract

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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人类胚胎的染色体挑战：非整倍体和嵌合体的流行

染色体畸变，如全染色体非整倍体、节段性非整倍体、全染色体嵌合体和节段嵌合体，是影响胚胎发育和生育计划结果的关键因素。这篇分析综述批判性地检查了这些遗传异常的患病率和起源，强调了母体对全染色体非整倍体的重要贡献以及这些异常的年龄相关性质。相反，片段性非整倍体、全染色体嵌合体和片段性嵌合体在很大程度上与年龄无关，并且在研究中表现出相当大的差异，主要是由于技术人工制品和方法差异。通过分析积累的数据，仔细检查非整倍体着床前遗传学检测的方法差异，区分生物现象和人工产物，本文旨在澄清目前对人类胚胎染色体畸变及其对生殖健康的影响的理解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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