ABSTRACT
Based on first reports on children with Imprinting Disorders (ImpDis) conceived by assisted reproduction technologies (ART) in 2002/2003, it has been postulated that there is a causal link between ART procedures and aberrant methylation. Subsequent studies in larger cohorts provided discrepant findings. Whereas epidemiological surveys in ART cohorts did not confirm an increase of children with ImpDis, studies in patient registries, eg, for Beckwith-Wiedemann syndrome indicate that there is a significant increase of patients with epimutations conceived by ART. For Angelman syndrome as the first reported ImpDis in ART this correlation is unclear because several patients carry genomic alterations which are difficult to explain by the ART procedure itself. Therefore, the question remains whether the ART methodology or the sub/infertility itself is the risk factor resulting in an increased risk for children with congenital ImpDis born after ART. In fact, a combination of both is conceivable: The occurrence of some ImpDis might be due to the parental sub/infertility and the causes behind them, and some imprinted loci might be prone to an alteration of methylation marks caused by the ART procedure. Further studies are needed to explore the apparently increased ratio of ImpDis patients born after ART.
