Genetic risks of in vitro fertilization

In-vitro fertilization (IVF) with embryo transfer is a well established therapy in infertility. With the increase of andrological problems as reasons for IVF the question of possible genetic risks is gaining additional attention. For the patients, the incidence of congenital malformations in their offspring resulting from IVF as well as the incidence of spontaneous abortions are of particular interest. In this review population genetic data of congenital malformations are compared to those found in IVF populations. On average, congenital malformations occur in 3% of all livebirths in an unselected population, whereas there were 1.5% newborns with congenital malformations reported in the IVF population. This is well within this basic background risk for congenital malformations. Bearing maternal age and especially careful follow-up of early pregnancies after IVF in mind, the rate of spontaneous abortions after IVF (21 to 27%) is also not significantly increased above the rate of 15% in the unselected general population. The introduction of microinvasive techniques into IVF has given the question of possible genetic risks for the offspring from IVF using these techniques, a great deal of topical interest. The range of indications of subzonal or intracytoplasmatic sperm injection (ICSI) includes andrological problems to a high degree which themselves could be the result of chromosomal anomalies or hereditary disorders. One example is the vas deferens aplasia in one form of CF mutations. Cytogenetic and clinical genetic evaluation should be recommended especially in cases of andrological or idiopathic sterility and infertility. Some examples of autosomal dominant syndromes in which clinical genetic evaluation and genetic counselling are advisable are listed in a summarizing table.