Sciorio Romualdo, Tramontano Luca, Rapalini Erika, Bellaminutti Serena, Bulletti Francesco M, D'Amato Antonio, Manna Claudio, Palagiano Antonio, Bulletti Carlo, Esteves Sandro C
Edinburgh Assisted Conception Programme, EFREC, Royal Infirmary of Edinburgh, Edinburgh, UK.
Department of Women, Infants and Adolescents, Division of Obstetrics, Geneva University Hospitals, Geneva, Switzerland.
Clin Genet. 2023 Feb;103(2):133-145. doi: 10.1111/cge.14232. Epub 2022 Oct 1.
Assisted reproductive technology may influence epigenetic signature as the procedures coincide with the extensive epigenetic modification occurring from fertilization to embryo implantation. However, it is still unclear to what extent ART alters the embryo epigenome. In vivo fertilization occurs in the fallopian tube, where a specific and natural environment enables the embryo's healthy development. During this dynamic period, major waves of epigenetic reprogramming, crucial for the normal fate of the embryo, take place. Over the past decade, concerns relating to the raised incidence of epigenetic anomalies and imprinting following ART have been raised by several authors. Epigenetic reprogramming is particularly susceptible to environmental conditions during the periconceptional period; therefore, unphysiological conditions, including ovarian stimulation, in vitro fertilization, embryo culture, cryopreservation of gametes and embryos, parental lifestyle, and underlying infertility, have the potential to contribute to epigenetic dysregulation independently or collectively. This review critically appraises the evidence relating to the association between ART and genetic and epigenetic modifications that may be transmitted to the offspring.
辅助生殖技术可能会影响表观遗传特征,因为这些操作与从受精到胚胎着床期间发生的广泛表观遗传修饰相吻合。然而,辅助生殖技术在多大程度上改变胚胎表观基因组仍不清楚。体内受精发生在输卵管中,特定的自然环境使胚胎能够健康发育。在这个动态时期,对胚胎正常发育至关重要的主要表观遗传重编程阶段会发生。在过去十年中,几位作者提出了对辅助生殖技术后表观遗传异常和印记发生率升高的担忧。表观遗传重编程在受孕期间对环境条件特别敏感;因此,包括卵巢刺激、体外受精、胚胎培养、配子和胚胎冷冻保存、父母生活方式以及潜在的不孕不育等非生理条件,有可能单独或共同导致表观遗传失调。这篇综述批判性地评估了与辅助生殖技术和可能传递给后代的遗传及表观遗传修饰之间关联的证据。