P-08

Infertility: importance of cytogenetic study

Marta Souto^I; Pedro Botelho^I; Regina Arantes^I; Zélia Gomes^II; Márcia Martins^III; Osvaldo Moutinho^II,III; Rosário Pinto Leite^I

^ILaboratório de Citogenética, Serviço de Genética, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal
^IIServiço de Ginecologia/Obstetrícia, Centro Hospitalar de Trás-os- Montes e Alto Douro, Vila Real, Portugal
^IIIServiço de Genética, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, Portugal

Infertility has been considered by the World Health Organization as a public health problem. The prevalence of infertility is increasing in the developed world and affects 10-15% of couples in reproductive age.

An etiology for infertility can be found in 80% of cases with an even distribution of male and female factors, including couples with multiple factors. Chromosomal abnormalities affect 5% of infertile males and 4% of the women. The most frequent anomalies involve the sex chromosomes.

The authors present the cytogenetic results of 221 couples referred to infertility consultation between January 2010 to December 2014. Cytogenetic analysis was performed according to standard techniques. At least 15 metaphases were analyzed in each case and additional analysis of 15 metaphases to exclude mosaicism.

Cytogenetic  abnormalities  were  found  in  12  cases, 7 in women and 5 in men. Seven balanced reciprocal translocations were detected. We also observed aneuploidies involving X chromosome and two markers. This review corroborates the importance of peripheral blood karyotype analysis in infertile couples, since it allows a proper diagnosis and genetic counseling.