Epigenetics and Assisted Reproductive Technology: A Call for Investigation

Emily L. Niemitz, Andrew P. Feinberg

Research output: Contribution to journalReview articlepeer-review

262 Scopus citations


A surprising set of recent observations suggests a link between assisted reproductive technology (ART) and epigenetic errors-that is, errors involving information other than DNA sequence that is heritable during cell division. An apparent association with ART was found in registries of children with Beckwith-Wiedemann syndrome, Angelman syndrome, and retinoblastoma. Here, we review the epidemiology and molecular biology behind these studies and those of relevant model systems, and we highlight the need for investigation of two major questions: (1) large-scale case-control studies of ART outcomes, including long-term assessment of the incidence of birth defects and cancer, and (2) investigation of the relationship between epigenetic errors in both offspring and parents, the specific methods of ART used, and the underlying infertility diagnoses. In addition, the components of proprietary commercial media used in ART procedures must be fully and publicly disclosed, so that factors such as methionine content can be assessed, given the relationship in animal studies between methionine exposure and epigenetic changes.

Original languageEnglish (US)
Pages (from-to)599-609
Number of pages11
JournalAmerican journal of human genetics
Issue number4
StatePublished - Apr 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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