Paediatric outcome following infertility management/genetic outcome

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Introduction: A higher number of genetic problems in children born after ART can be expected due to the ART procedures themselves and due to parental characteristics of the population needing these procedures. Materials and results: Most of the recent IVF and ICSI studies indicate that there is a slightly higher risk of congenital malformations in children born after ART in comparison to children in the general population. This risk seems to be mostly related to parental background, more specifically to factors such as a higher maternal age, a longer period of infertility prior to conception, pre-existing parental diseases or genetic conditions, etc. However, a procedure-related risk cannot be ruled out completely either. An increase in malformations of specific organ systems was reported in a few studies but not confirmed by others. No increase in major malformations was found to be associated with the use of sperm from different sperm sources such as testicular sperm or with the use of very poor sperm quality. If a major malformation is estimated (following a clearly defined definition and methodology) to be present in approximately 2.5% of newborns, then a risk of 3.5% is to be given in ICSI or IVF children. A higher rate of non-balanced inherited chromosomal anomalies was reported (1.4%), mainly due to paternal structural chromosomal anomalies, as well as a higher rate of de novo chromosomal anomalies (1.6%), related to paternal sperm characteristics. Animal research and recent reports in literature warn that there could be a low risk of epigenetic defects and rare diseases (such as the Beckwith–Wiedemann syndrome) related to imprinting disorders, but this has to be further elucidated. Conclusion: Parents should be told that a possible effect of the ART techniques on the outcome of the children (in terms of chromosomal anomalies and malformations) cannot be excluded, but that it is probably far less important than the underlying parental background. Extensive counselling and a search for individual risk factors can help to modify the individual risk for each couple. A systematic survey aimed at those syndromes and at defined phenotypes linked to imprinted genes may clarify whether epigenetic anomalies play a role in ART more often than in the general population.

Originele taal-2English
Pagina's (van-tot)343-350
Aantal pagina's8
TijdschriftInternational Congress Series
Nummer van het tijdschriftC
StatusPublished - 1 apr 2004


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