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.

FSH treatment of male idiopathic infertility: Time for a paradigm change

“…We need new instruments, possibly non‐invasive, to characterize better the testicular phenotype of infertile men and to dissect the mess of ‘idiopathic infertility’ into discrete subgroups characterized by common features at the testicular level. Radically new approaches, for example, determination of nanoscale components of biological samples, comprehensive genetic analysis and markers, big data analysis by machine learning, and ultrastructural in vivo imaging, are necessary to obtain some progress. Meanwhile, we must do with what we have, and a paradigm change in pharmacologic FSH treatment of male infertility should take place.…”

Bisphenol A-Induced Epigenetic Changes and Its Effects on the Male Reproductive System

“…Given the relevant epigenetic effect of BPA and other EDCs, it could be useful in future to define specific epigenetic markers associated with male reproductive dysfunction during preconceptional analysis (8,76,77). In addition, since epigenetic changes can be potentially treated, target therapies could represent a very interesting topic of study in order to preserve fertility in subsequent generations.…”

Genes predisposing to syndromic and nonsyndromic infertility: a narrative review

“…Decreases glycolytic enzymes, which disrupts protein loading into acrosomes, resulting in asthenozoospermia and poor sperm motility [122]. extended to everyone who has the means [157]. It is specifically recommended for embryos of couples who are recessive for a gene infertility disorder.…”