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.