Imprinting disorders and assisted reproductive technology

Carter M. Owen, James H. Segars

Research output: Contribution to journalReview articlepeer-review

79 Scopus citations


Worldwide use of assisted reproductive technology (ART) accounts for an estimated 1 to 3% of births. Since 2002, a series of reports have suggested an increased risk of imprinting disorders (Beckwith-Wiedemann syndrome and Angelman syndrome) in children conceived by ART. Definitive conclusions are difficult to substantiate due to the rarity of imprinting disorders and the variability in ART protocols. Despite these limitations, there is biological plausibility for alteration in nongenomic inheritance caused by ART. Animal studies have shown that ART procedures can alter normal imprinting, specifically DNA methylation patterns. Collectively, studies suggest an association between ART and loss of maternal methylation. More recent reports examined a possible association between ART and global hypomethylation of DNA. Three other imprinting disorders (Silver-Russell syndrome, maternal hypomethylation syndrome, and retinoblastoma) have also been implicated, but there is insufficient evidence to establish an association of these syndromes with ART. Based on current evidence, the absolute risk of imprinting disorders after ART remains small and does not warrant routine screening. Large prospective studies are needed to better understand the risks associated with imprinting disorders, imprinting defects, and ART.

Original languageEnglish (US)
Pages (from-to)417-428
Number of pages12
JournalSeminars in reproductive medicine
Issue number5
StatePublished - Sep 2009
Externally publishedYes


  • ART
  • AS
  • Assisted reproductive technology
  • BWS
  • DNA methylation
  • Imprinting disorders
  • Loss of maternal methylation
  • Nongenomic inheritance

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Reproductive Medicine
  • Endocrinology
  • Obstetrics and Gynecology
  • Physiology (medical)


Dive into the research topics of 'Imprinting disorders and assisted reproductive technology'. Together they form a unique fingerprint.

Cite this