Assisted reproductive therapies and imprinting disorders--a preliminary British survey

Hum Reprod. 2006 Apr;21(4):1009-11. doi: 10.1093/humrep/dei405. Epub 2005 Dec 16.

Abstract

Background: Recent reports have suggested a higher risk of Beckwith-Wiedemann syndrome (BWS) and Angelman syndrome (AS) after assisted reproductive technologies (ARTs), but it is unclear whether this might also apply to other disorders of genomic imprinting.

Methods: We contacted families of children with BWS, AS, Prader-Willi syndrome (PWS) and transient neonatal diabetes mellitus (TNDM) to determine use of ART.

Results: A statistically significant increased frequency of ART in children with BWS was confirmed [2.9%, 95% confidence interval (CI) 1.4-6.3% vs 0.8% expected] but there was no significant association with PWS or TNDM. Consideration of the molecular subgroup of BWS and AS suggested the feasibility of association with ART.

Conclusions: These differences may relate to variations in (i) the molecular mechanisms for disordered imprinting in the different disorders and (ii) the susceptibility of specific imprinting control regions to ART-associated methylation alterations (epimutations).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angelman Syndrome / epidemiology
  • Angelman Syndrome / etiology
  • Beckwith-Wiedemann Syndrome / epidemiology
  • Beckwith-Wiedemann Syndrome / etiology
  • Chromosome Disorders / epidemiology
  • Chromosome Disorders / etiology*
  • Genomic Imprinting*
  • Humans
  • Reproductive Techniques, Assisted / adverse effects*
  • Risk Factors
  • United Kingdom / epidemiology