Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests

Objective To report the results of the routine application of Italian guidelines that apply to infertile patient candidates for any assisted reproduction technique (ART). The guidelines recommend performing a karyotype analysis in each couple and the screening test for mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) in one of the two partners. Design Case series. Setting Infertility unit. Patient(s) Two thousand seven hundred ten consecutive infertile couple candidates for ART. Intervention(s) Peripheral blood evaluation of karyotype and CFTR gene. Main Outcome Measure(s) Frequency of aberrant karyotype and mutated CFTR gene. Result(s) A total of 74 aberrant karyotypes were diagnosed, corresponding to 1.3% (95% confidence interval [CI], 0.9%–1.7%) in women and to 1.5% (95% CI, 1.0%–2.0%) in men. In men, the frequency of chromosomal abnormalities differed according to the treatment group (0.3%, 1.1%, and 2.2% in IUI, IVF, and ICSI, respectively). The same was not observed in women. Excluding the 5T variant, 3.8% of the screened patients showed a mutated CFTR gene (95% CI, 3.1%–4.5%), and the mutation was found in both partners in 0.2% of the couples (95% CI, 0.0–0.4%). Conclusion(s) The frequency of aberrant karyotypes is higher in infertile couples than in the general population, whereas the frequency of a mutation of the CFTR gene is similar.