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Liborio Stuppia and Valentina Gatta


Approximately 15% of couples in western countries have infertility problems. Identification of genetic alterations responsible for infertility is important for therapy and to avoid transmission of genetic abnormalities that could impair the health of offspring, especially for couples with idiopathic infertility and those undergoing assisted reproductive techniques (ART). The aim of this review is to summarize the main genetic tests to offer to infertile couples during diagnostic work-up and in cases of ART, considering future directions of risk assessment in the field of reproductive medicine. Before offering a genetic test to an infertile couple, it is crucial to characterize their clinical and hormonal profile. Genetic testing should only be carried out when appropriate, that is when clinical and family history suggest a genetic cause of infertility. The genetic tests to offer to infertile couples must be targeted at infertility and should always consider the cost/benefit ratio. No causative genes have been identified for certain conditions, making clinical genetic testing impractical. Next generation sequencing (NGS) is a powerful tool for the identification of pathological mutations and for discovering new disease-associated loci in the field of reproduction. Comprehensive multigene panels for infertile risk assessment could simplify the diagnostic and therapeutic process. The main limitation is interpretation of the enormous amount of NGS data, since the clinical role and biological implications of variants, especially those of unknown significance, are still unclear.