Hum. Reprod. Advance Access originally published online on December 16, 2005
Human Reproduction 2006 21(4):1009-1011; doi:10.1093/humrep/dei405
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Assisted reproductive therapies and imprinting disorders—a preliminary British survey
1 Department of Child Health, and 7 Department of Primary Care and Population Sciences, Royal Free & University College Medical School, 5 Clinical & Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, 2 Clinical Genetics Unit, Birmingham Women’s Hospital and 8 Section of Medical and Molecular Genetics, University of Birmingham Institute of Biomedical Research, Edgbaston, Birmingham, 3 Wessex Clinical Genetics Service and Division of Human Genetics, Southampton University and NHS Trust, 6 Academic Department of Medical Genetics and Regional Genetic Service, St Mary’s Hospital, Manchester, UK and 4 Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12, Ireland
9 To whom correspondence should be addressed at: Department of Child Health, Royal Free & University College Medical School, Royal Free Hospital, Lower Ground Floor, Pond Street, London NW3 2PF, UK. E-mail: icsi{at}rfc.ucl.ac.uk
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).
Key words: ART/BWS/imprinting/IVF/PWS
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