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BJOG. 2005 Dec;112(12):1589-94.

Assisted reproduction technology and defects of genomic imprinting.

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Human Assisted Reproduction Ireland, Rotunda Hospital, Dublin, Ireland.


It is estimated that approximately 1% of the newborn population of the British Isles are conceived following assisted reproduction technologies such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI). While the long term outcome of IVF children is mostly reassuring, some concerns remain. Specifically, recent studies have suggested a possible association between assisted conception and clinical conditions of genetic origin known as genomic imprinting defects. This has arisen from several different studies observing an excess of assisted conceptions among the rare clinical disorders of Beckwith-Wiedemann syndrome (BWS) and Angelman syndrome (AS). The numbers of such patients described in the studies to date are small but indicate a clear need for large-scale investigations to clarify the link between genomic imprinting defects and assisted conception as well as to establish the exact biological basis of any such link. In view of the strong public interest in this area of medicine, it behoves all professionals working in reproductive medicine and associated areas to be aware of these emerging data and be in a position to discuss them in as informed and responsible a manner with patients, as current data limitations permit.

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