CC BY 4.0 · Glob Med Genet 2021; 08(01): 001-006
DOI: 10.1055/s-0041-1723085
Review Article

Association of Assisted Reproductive Technology Treatments with Imprinting Disorders

T. Kopca
1   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
,
Pinar Tulay
1   Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus
2   Near East University, DESAM Institute, Nicosia, Cyprus
› Author Affiliations

Abstract

Assisted reproductive technology (ART) is a broad field in infertility that encompasses different types of treatments. These revolutionary treatment methods aimed to aid infertile or subfertile couples. Treatment was expanded exponentially, as 1 to 3% of the births worldwide takes place with ART procedures. However, treatment is not flawless. Gametes and embryos are exposed to different chemicals and stress through treatment, which leads to disturbance in proper embryo development and results in prenatal and congenital anomalies. When compared with in-vivo development of gametes and preimplantation embryos in mice, in-vitro conditions during ART treatments have been suggested to disturb the gene expression levels, especially imprinted genes. Therefore, ART has been suggested to be associated with increased incidences of different imprinting disorders such as Beckwith–Wiedemann syndrome, Angelman syndrome, and Silver–Russell syndrome, as proved by different case reports and studies. This literature review aims to explain the association of imprinting disorders with this revolutionary treatment procedure.



Publication History

Article published online:
25 February 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Zegers-Hochschild F, Adamson GD, de Mouzon J. et al; International Committee for Monitoring Assisted Reproductive Technology, World Health Organization. International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) revised glossary of ART terminology, 2009. Fertil Steril 2009; 92 (05) 1520-1524
  • 2 Kawwass JF, Badell ML. Maternal and fetal risk associated with assisted reproductive technology. Obstet Gynecol 2018; 132 (03) 763-772
  • 3 Hyrapetian M, Loucaides EM, Sutcliffe AG. Health and disease in children born after assistive reproductive therapies (ART). J Reprod Immunol 2014; 106: 21-26
  • 4 Bachvarova RF. A maternal tail of poly(A): the long and the short of it. Cell 1992; 69 (06) 895-897
  • 5 Jaroudi S, SenGupta S. DNA repair in mammalian embryos. Mutat Res 2007; 635 (01) 53-77
  • 6 Zheng P, Patel B, McMenamin M. et al. The primate embryo gene expression resource: a novel resource to facilitate rapid analysis of gene expression patterns in non-human primate oocytes and preimplantation stage embryos. Biol Reprod 2004; 70 (05) 1411-1418
  • 7 Wang QT, Piotrowska K, Ciemerych MA. et al. A genome-wide study of gene activity reveals developmental signaling pathways in the preimplantation mouse embryo. Dev Cell 2004; 6 (01) 133-144
  • 8 Tesarík J, Pilka L, Trávník P. Zona pellucida resistance to sperm penetration before the completion of human oocyte maturation. J Reprod Fertil 1988; 83 (01) 487-495
  • 9 Hao Y, Zhang Z, Han D, Zhou P, Cao Y, Wei Z. Imprinting methylation and assisted reproductive. J Reprod Contracept 2015; 26 (02) 112-120
  • 10 Seisenberger S, Peat JR, Hore TA. et al. Reprogramming DNA methylation in the mammalian life cycle : building and breaking epigenetic barriers. Philos Trans R Soc Lond B Biol Sci 2012; 95: 1-11
  • 11 Morgan HD, Santos F, Green K, Dean W, Reik W. Epigenetic reprogramming in mammals. Hum Mol Genet 2005; 14 (Spec No 1): R47-R58
  • 12 Saxonov S, Berg P, Brutlag DL. A genome-wide analysis of CpG dinucleotides in the human genome distinguishes two distinct classes of promoters. Proc Natl Acad Sci USA 2006; 103 (05) 1412-1417
  • 13 Okano M, Bell DW, Haber DA, Li E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 1999; 99 (03) 247-257
  • 14 Manipalviratn S. NIH public access policy. Science 2004; 91 (02) 305-315
  • 15 Santos MA, Kuijk EW, Macklon NS. The impact of ovarian stimulation for IVF on the developing embryo. Reproduction 2010; 139 (01) 23-34
  • 16 Doherty AS, Mann MRW, Tremblay KD, Bartolomei MS, Schultz RM. Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo. Biol Reprod 2000; 62 (06) 1526-1535
  • 17 Rinaudo P, Schultz RM, Schultz RM. Effects of embryo culture on global pattern of gene expression in preimplantation mouse embryos. Reproduction 2004; 128 (03) 301-311
  • 18 Summers MC. A brief history of the development of the KSOM family of media. J Assist Reprod Genet 2013; 30 (08) 995-999
  • 19 Khosla S, Dean W, Brown D, Reik W, Feil R. Culture of preimplantation mouse embryos affects fetal development and the expression of imprinted genes. Biol Reprod 2001; 64 (03) 918-926
  • 20 Thompson JR, Williams CJ, Ph D. Genomic imprinting and assisted reproductive technology: connections and potential risks. Semin Reprod Med 2005; 23 (03) 285-295
  • 21 De Rycke M, Liebaers I, Van Steirteghem A. Epigenetic risks related to assisted reproductive technologies: risk analysis and epigenetic inheritance. Hum Reprod 2002; 17 (10) 2487-2494
  • 22 Fauque P, Jouannet P, Lesaffre C. et al. Assisted reproductive technology affects developmental kinetics, H19 imprinting control region methylation and H19 gene expression in individual mouse embryos. BMC Dev Biol 2007; 7: 116 DOI: 10.1186/1471-213X-7-116.
  • 23 Shi W, Haaf T. Aberrant methylation patterns at the two-cell stage as an indicator of early developmental failure. Mol Reprod Dev 2002; 63 (03) 329-334
  • 24 Cox GF, Bürger J, Lip V. et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 2002; 71 (01) 162-164
  • 25 Manipalviratn S, DeCherney A, Segars J. Imprinting disorders and assisted reproductive technology. Fertil Steril 2009; 91 (02) 305-315
  • 26 Vermeiden JPW, Bernardus RE, Bernardus RE. Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection?. Fertil Steril 2013; 99 (03) 642-651
  • 27 Owen CM, Segars Jr. JH. Imprinting disorders and assisted reproductive technology. Semin Reprod Med 2009; 27 (05) 417-428
  • 28 Choufani S, Shuman C, Weksberg R. Molecular findings in Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2013; 163C (02) 131-140
  • 29 Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2010; 154C (03) 343-354
  • 30 Lim D, Bowdin SC, Tee L. et al. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod 2009; 24 (03) 741-747
  • 31 DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 2003; 72 (01) 156-160
  • 32 Buiting K. Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C Semin Med Genet 2010; 154C (03) 365-376
  • 33 Lalande M, Calciano MA. Molecular epigenetics of Angelman syndrome. Cell Mol Life Sci 2007; 64 (7-8): 947-960
  • 34 Ludwig M, Katalinic A, Gross S, Sutcliffe A, Varon R, Horsthemke B. Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. J Med Genet 2005; 42 (04) 289-291
  • 35 Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet 2010; 154C (03) 355-364
  • 36 Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet 2008; 45 (04) 193-199
  • 37 Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T. Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. J Assist Reprod Genet 2007; 24 (04) 131-136
  • 38 Niemitz EL, Feinberg AP. Epigenetics and assisted reproductive technology: a call for investigation. Am J Hum Genet 2004; 74 (04) 599-609
  • 39 Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nat Genet 1998; 20 (02) 163-169