Hum. Reprod. Advance Access originally published online on January 29, 2004
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Human Reproduction, Vol. 19, No. 3, 472-476,
March 2004
© 2004 European Society of Human Reproduction and Embryology
Safety issues in assisted reproduction technology
Should ICSI patients have genetic testing before treatment? A practical proposition to help patient information
1 Department of Medical Genetics, University of Helsinki and Department of Clinical Genetics, Helsinki University Central Hospital, FIN-00029 Helsinki, Finland, 2 Department of Obstetrics and Gynecology, Institute of Women’s and Children’s Health, Sahlgrenska University Hospital, SE-413 45 Göteborg, 3 Department of Obstetrics and Gynecology, Linköping University Hospital, SE-581 85 Linköping, 5 IVF Clinic at Sophiahemmet, SE-114 86 Stockholm,Sweden and 4 Department of Reproductive Medicine, Volvat Medical Center, N-0303 Oslo, Norway
6 To whom correspondence should be addressed at: Department of Clinical Genetics, Helsinki University Central Hospital, PO Box 140, FIN-00029 Helsinki, Finland. e-mail: Kristiina.Aittomaki{at}hus.fi
ICSI is a highly efficient treatment of male factor infertility and therefore increasingly used to treat infertile men successfully. However, when used to treat patients with a genetic cause for their infertility, there may be an increased risk for the offspring. Chromosome aberrations, Y chromosome microdeletions and CFTR (cystic fibrosis transmembrane conductance regulator) mutations alone may explain up to 25% of azoospermia and severe oligozoospermia. These genetic defects could be identified before treatment, in which case informed decisions could be made by the couple to be treated concerning the treatment, prenatal testing or preimplantation genetic diagnosis. Therefore, we propose that men with very low sperm counts (<5 x 106/ml) considering ICSI should always be informed of the possibility of genetic testing. The information should include a precise statement of the implications of the results for the patient, his family and his offspring, and reassurance that a decision to test or not to test, or the subsequent test results will not be used as a reason for withholding treatment. Testing should always remain voluntary, and the couples themselves should decide whether or not they choose to be tested. If an abnormality is identified, patients should be referred to specialist genetic counselling.
Key words: CFTR/genetic testing/ICSI/male infertility/Y microdeletion
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