Background: An increasing number of couples undergo assisted reproduction techniques (ART) to generate a child, with the risk of the transmission to the offspring of a genetic defect underlying the condition of infertility.
Objective: To review the most common genetic causes of infertility and identify the appropriate genetic testing to be carried out to reduce the risk of genetic defect in the offspring.
Method: Review of the literature in the field.
Results/conclusion: Cytogenetic investigation and screening of the CFTR gene are the only genetics testing suggested in all the couples undergoing ART; other tests should be performed only in selected cases.