Imprinting methylation errors in ART

Hitoshi Hiura, Hiroaki Okae, Hatsune Chiba, Naoko Miyauchi, Fumi Sato, Akiko Sato, Takahiro Arima

Research output: Contribution to journalArticlepeer-review

59 Citations (Scopus)


There has been an increase in incidence reports of rare imprinting disorders associated with assisted reproductive technology (ART). ART, including in vitro fertilization and intracytoplasmic sperm injections, is an important treatment for infertile people of reproductive age and increasingly produces children. The identification of epigenetic changes at imprinted loci in ART infants has led to the suggestion that ART techniques themselves may predispose embryos to acquire imprinting errors and diseases. In this review, we note that the particular steps of ART may be prone to induction of imprinting methylation errors during gametogenesis, fertilization and early embryonic development. In addition, we explain imprint-associated diseases and their causes. Moreover, from a Japanese nationwide epidemiological study of imprint-associated diseases, we determine their associations with ART. Epigenetic studies will be required to understand the pathogenesis, ART-related risk factor(s) and what precautions can be taken to prevent the occurrence of input methylation errors. We hope that the constitution of children born after each ART procedure will reveal the safest and most ethical approach to use, which will be invaluable for the future development of standard ART.

Original languageEnglish
Pages (from-to)193-202
Number of pages10
JournalReproductive Medicine and Biology
Issue number4
Publication statusPublished - 2014 Oct 3


  • Assisted reproductive technologies (ART)
  • DNA methylation
  • Genomic imprinting
  • In vitro fertilization (IVF)
  • Intracytoplasmic sperm injection (ICSI)

ASJC Scopus subject areas

  • Reproductive Medicine
  • Cell Biology


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