The evolving role of genetic tests in reproductive medicine

Abstract

Infertility is considered a major public health issue, and approximately 1 out of 6 people worldwide suffer from infertility during their reproductive lifespans. Thanks to technological advances, genetic tests are becoming increasingly relevant in reproductive medicine. More genetic tests are required to identify the cause of male and/or female infertility, identify carriers of inherited diseases and plan antenatal testing. Furthermore, genetic tests provide direction toward the most appropriate assisted reproductive techniques. Nevertheless, the use of molecular analysis in this field is still fragmented and cumbersome. The aim of this review is to highlight the conditions in which a genetic evaluation (counselling and testing) plays a role in improving the reproductive outcomes of infertile couples. We conducted a review of the literature, and starting from the observation of specific signs and symptoms, we describe the available molecular tests. To conceive a child, both partners' reproductive systems need to function in a precisely choreographed manner. Hence to treat infertility, it is key to assess both partners. Our results highlight the increasing importance of molecular testing in reproductive medicine.

Keywords: Assisted reproductive technology; Female infertility; Genetic tests; Male infertility; Reproductive medicine.

Fig. 1

The three main fields of application for which genetic testing is required to improve reproductive medicine: identification of the infertility causes (a), identification of genetic diseases transmissible to offspring (b), and optimization of the assisted reproductive techniques (c)

Fig. 2

Stratifying the population, through the identification of risk factors and diseases that may be present, allows the organization of targeted diagnostic–therapeutic approaches. The couples in which the reproductive risk is lower are those in which an unhealthy lifestyle was evident in the absence of pathological conditions; in this case, it is necessary to take action based on this information to promote a healthy lifestyle. The reproductive risk increases in couples in which, during the diagnostic phase, the presence of a disease in only one of the partners is identified. In both cases, there are specific interventions aimed at the patient. However, targeted interventions are required in couples with a high reproductive risk, i.e., when both partners are affected by a pathology and after the failure of all methods to achieve pregnancy naturally