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Genetic factors in assisted reproduction

Genetische Faktoren in der Reproduktionsmedizin

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Zusammenfassung

Ob die Anwendung der Reproduktionsmedizin zu einer erhöhten Anzahl von Kindern mit angeborenen Missbildungen führt, ist bis dato nicht gesichert. Die Schwierigke it besteht vor allem darin, etwaige Missbildungen, die durch die Techniken der Reproduktionsmedizin entstanden sein könnten, von jenen zu unterscheiden, die durch das erhöhte genetische Hintergrundrisiko von Infertilitätspatienten erklärbar sind. Vom genetischen Standpunkt sind Infertilitätspatienten nämlich als Hochrisikokollektiv einzustufen. Bei diesen beträgt die Prävalenz von numerischen Chromosomenaberrationen rund 10% im Vergleich zu 0,85% in der Allgemeinbevölkerung. Strukturelle Chromosomenaberrationen kommen in der Allgemeinbevölkerung zu rund 0,1% vor; bei IVF-Patienten jedoch bis zu 1%. Daneben sind Mikrodeletionen am Y-Chromosom und Mutationen im CFTR-Gen Infertilitätsgründe, die der Reproduktionsmediziner in seinem Klientel antreffen kann. Genetische Beratung und gegebenenfalls genetische Untersuchungen sollten daher routinemäßig bei Infertilitätspatienten durchgeführt werden. Zukünftige Eltern sollten außerdem aufgeklärt werden, dass verschiedene paternale und maternale Gendefekte an das mit den Methoden der assistierte Reproduktion gezeugte Kind übertragen werden können, während dasselbe Kind auf natürlichem Weg vermutlich nie empfangen worden wäre.

Summary

It is still unclear whether the procedures of assisted reproduction increase the risk of congenital malformations. Thus, it remains to be clarified whether an increased risk, if any, of congenital malformations in these children is caused by the procedure of assisted reproduction itself or by the underlying maternal and paternal background. From the genetic point of view, infertility patients seeking assisted reproduction have to be classified as a high-risk group. The prevalence of numerical chromosomal abnormalities is around 10% in these patients, compared with 0.85% in the general population. The prevalence of structural chromosomal abnormalities is around 0.1% in the general population and is increased up to 1% in patients seeking assisted reproduction. In addition, patients with microdeletions of the Y-chromosome or mutations in the cystic fibrosis transmembrane-conductance regulator gene are likely to be encountered at the fertility clinic. Therefore, genetic screening and counselling should be routinely offered to infertility patients. They also need to understand that parental factors can be transferred to offspring that would most likely not have been conceived by natural means.

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Authors and Affiliations

  1. Division of Gynaecologic Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynaecology, University of Vienna Medical School, Währinger Gürtel 18-20, A-1090, Vienna, Austria

    Christian J. Gruber, Isabel M. Gruber, Kathrin Ferlitsch, Doris M. Gruber & Johannes C. Huber

  2. Prenatal Diagnosis and Therapy, University of Vienna Medical School, Vienna, Austria

    Markus Hengstschläger

  3. Division of Gynaecology and Obstetrics, University of Vienna Medical School, Vienna, Austria

    Heinz Leipold

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  1. Christian J. Gruber
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  2. Markus Hengstschläger
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  3. Heinz Leipold
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  4. Isabel M. Gruber
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  5. Kathrin Ferlitsch
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  6. Doris M. Gruber
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  7. Johannes C. Huber
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Correspondence to Christian J. Gruber.

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Gruber, C.J., Hengstschläger, M., Leipold, H. et al. Genetic factors in assisted reproduction. Wien Klin Wochenschr 115, 805–811 (2003). https://doi.org/10.1007/BF03041040

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  • DOI: https://doi.org/10.1007/BF03041040

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