Genetic counselling in reproductive medicine [Genetische beratung in der reproduktionsmedizin]

Since infertility often has genetic causes, reproductive medicine and human genetics are two tightly linked medical disciplines. Genetic testing should always be accompanied by the offer of genetic counselling. This should help the patient to understand the medical facts of the disorder and enable him or her to make informed decisions. Genetic counselling should be non-directive and should not directly influence the decision of the patient. Rather, it should consider the patient's personal situation and moral concepts. The genetic causes of infertility are widespread. They range from numerical aberrations of the sex chromosomes, translocations of the autosomes and microdeletions of the Y chromosome to a variety of monogenic disorders. In addition to the genetic causes of infertility, genetic counselling should also cover the elevated risk of assisted reproductive technology for malformations and imprinting defects. © 2007 Springer Medizin Verlag.