Purpose of review: To summarize current evidence in the association of imprinting disorders and assisted reproductive technology.
Recent findings: The worldwide usage of assisted reproductive technology (ART) has continued to increase since the first successful birth of a human after IVF. Since 2002, several reports have raised concerns that children conceived by ART are at increased risk of having imprinting disorders. The majority of published studies have examined DNA methylation in children conceived by ART, but results are conflicting. Beckwith-Wiedemann syndrome and Angelman syndrome are the most extensively studied imprinting disorders and multiple case series and reports have been published on ART-conceived children with these syndromes. Overall the majority of reports suggest that ART might be associated with Beckwith-Wiedermann syndrome and Angelman syndrome, but larger collaborative studies need to be performed.
Summary: The current data suggest an association between imprinting disorders and ART although the absolute risk appears to be low. However, animal studies have established biologic plausibility and there is continuing concern about the possibility of epigenetic changes resulting from ART.