Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study

BACKGROUND: Evaluation of relationships between assisted reproduction technologies (ART), fertility problems and disorders caused by disturbed genetic imprinting such as Angelman syndrome (AS) and Beckwith-Wiedemann syndrome (BWS). METHODS: A nation-wide questionnaire survey was performed regarding ART in families with a child with AS, BWS or Prader-Willi syndrome (PWS) including questions on fertility. Molecular data on the genetic disorder in affected children were gathered. RESULTS: Of the 220 affected children in this study, 14 (6.4%) were born following any form of ART compared with 83 818 (2.1%) in the Dutch population. Of AS, PWS or BWS children 15 (6.8%) were born after a fertility problem (Time To Pregnancy > 12 months, no forms of ART) compared to 141,340 (3.5%) in the Dutch population. Maternal age in the individual syndromes was higher than in the Dutch population. Families with affected children were three times more likely to experience fertility problems than the general population. All three syndromes were also individually associated with increased fertility problems in the families. CONCLUSIONS: After correction for the increased fertility problems of the parents, there is no increased incidence of ART related birth of AS, PWS or BWS children. ART does not seem to have a direct effect on the increase of imprinted diseases.