Aktueller Stellenwert der Genetik in der Reproduktionsmedizin

Genetic aspects play an increasingly more important role in the preconceptual diagnostics of infertile couples and during the treatment cycles of assisted reproduction itself. The focus in women is on the genetic clarification of disorders of ovarian function and premature ovarian insufficiency. In males the diagnostics mostly concentrate on the genetic causes of azoospermia. The preconceptional carrier screening is still a matter of controversial discussion with respect to the possible consequences and particularly the use of polygenic risk scores. Polar body biopsies and within the legally possible framework preimplantation genetic diagnostics are established procedures for the genetic evaluation of embryos. In contrast polygenic risk scores for use on human embryos are rejected by international societies for ethical reasons.