Abstract
Research on genetic causes of male and
female infertility rapidly expanded in the last years, following the development
of in vitro fertilising techniques. These procedures allow genetic abnormalities
to be passed on to children, the risk of transmission being in many cases
quite high. Transmission of mutations causing infertility is prevented by
natural selection, while this protective mechanism is overcome by the assisted
reproduction techniques (ART). Genetic defects may therefore persist or even
their frequency may increase in future generations. Thus, the identification
of genetic factors in the infertile couple has become mandatory for an appropriate
diagnosis, treatment and prognostic assessment. The lack of national or international
rules for the genetic approach to the infertile couple, prompted the Italian
community of professionals in the field of reproductive medicine to join and
set up guidelines for the genetic diagnosis of male and female infertility.
The group of clinical and research experts is representative of twelve national
scientific societies and was supported by external experts from four international
societies. We examine the clinically relevant genetic causes of male and female
infertility and suggest the category of patients for which each genetic is
mandatory or optional, both for an accurate diagnosis and prior to ART.
Mensile di scienza medica e attualita` 