Objective To review currently available literature on the association between imprinting disorders (Beckwith-Wiedemann syndrome [BWS], Angleman syndrome [AS] and retinoblastoma) and assisted reproductive technologies (ART) in humans. Design Publications related to imprinting/epigenetic disorders including BWS, AS and retinoblastoma with ART and articles publishing outcome of ART, including IVF and ICSI, from July 1978 to February 2008 were identified using PubMed, Medline and EMBASE. Result(s) Considerable evidence in animal studies has demonstrated alteration in gene imprinting of embryos cultured in vitro. Publications from Europe, America and Australia have suggested an association between ART and BWS. Importantly, more than 90% of BWS in children born after ART had imprinting defects, compared to 40–50% of BWS in children conceived without ART. Moreover, there have been other reports suggesting an association between AS and ART. The majority of children with AS born after ART had an imprinting defect as the underlying etiology, specifically loss of methylation of the maternal allele. There was a single report suggesting an increased incidence of retinoblastoma in children conceived with ART. Conclusion(s) Because the absolute incidence of imprinting disorders is very small (< 1:12,000 births), routine screening for imprinting disorders in children conceived with ART is not recommended. Additional large cohort studies of children born after ART are needed to determine whether there is a genuine association between ART and imprinting disorders.

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