A survey of assisted reproductive technology births and imprinting disorders

Sarah Bowdin (Lead / Corresponding author), Cathy Allen, Gail Kirby, Louise Brueton, Masoud Afnan, Christopher Barratt, Jackson Kirkman-Brown, Robert Harrison, Eamonn R Maher, William Reardon

Research output: Contribution to journalArticlepeer-review

138 Citations (Scopus)


Background: Genomic imprinting is an epigenetic process in which allele-specific gene expression is dependent on the parental inheritance. Although only a minority of human genes are imprinted, those that have been identified to date have been preferentially implicated in prenatal growth and neurodevelopment. Mutations or epimutations in imprinted genes or imprinting control centres are associated with imprinting disorders such as Angelman syndrome (AS) and Beckwith-Wiedemann syndrome (BWS). Recently, an increased frequency of assisted reproductive technology (ART) conceptions has been reported in children with BWS and AS. However, the risk of imprinting disorders in ART children is unknown.

Methods: We undertook a survey of 2492 children born after ART in the Republic of Ireland and Central England with the aim of detecting cases (both clinically diagnosed and previously unrecognized) of BWS and AS in this cohort. The response rate to an initial questionnaire was 61%, corresponding to data for 1524 children. After evaluation of the questionnaire, 70 children were invited for a detailed clinical assessment, and 47 accepted (response rate of 67%).

Results: In this entire cohort, we detected one case of BWS and no cases of AS. We did not find evidence that there exists a significant group of ART children with unrecognized milder forms of AS or BWS.

Conclusions: Although previous studies have suggested an increased relative risk of BWS and AS after ART, our findings suggest that the absolute risk of imprinting disorders in children conceived by ART is small (<1%). Precise risk estimates of risk are difficult to define because of the rarity of the conditions and incomplete response rates to the questionnaire and clinical examination invitations. Hence further investigations are indicated to (i) refine the absolute and relative risks of imprinting disorders after ART and (ii) ensure that changes in ART protocols are not associated with increased frequencies of epigenetic changes and imprinting disorders in children born after ART.

Original languageEnglish
Pages (from-to)3237-3240
Number of pages4
JournalHuman Reproduction
Issue number12
Publication statusPublished - Oct 2007


  • Angelman Syndrome/epidemiology
  • Beckwith-Wiedemann Syndrome/epidemiology
  • Child
  • Data Collection
  • Female
  • Follow-Up Studies
  • Genomic Imprinting
  • Humans
  • Pregnancy
  • Pregnancy Outcome
  • Risk Factors
  • Sperm Injections, Intracytoplasmic/statistics & numerical data
  • Surveys and Questionnaires


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