Chromosomal Aberrations in Couples with Infertility

Aims: One of the most significant causes of infertility in men and women are chromosomal abnormalities. There is a growing trend of postponing family planning so that couples want to have children in the later years of reproductive age, more precisely in the middle or late thirties. For this reason, we aimed to investigate the age, frequency, and types of significant cytogenetic abnormalities among infertile couples.

Study Design: Retrospective study.

Place and Duration of Study: 142 couples (284 patients) were referred to the Center for Genetics of the Faculty of Medicine in Sarajevo between 2018 - 2022.

Methodology: The research included 284 respondents aged 20 to 54 with infertility. Karyotyping was performed on peripheral blood lymphocytes using the Giemsa trypsin banding (GTG) technique.

Results: The highest frequency of infertility was observed in the couples group aged 30-39 years. Chromosomal aberrations were found in 8 (2.8%) couples with infertility. Out of 160 cases of primary infertility, aberrant karyotypes were recorded in five patients, and three aberrant karyotypes were recorded out of 124 patients diagnosed with secondary infertility. Compared to numerical aberration, the most common type of chromosome was a structural aberration. In both types of infertility, a structural aberration of chromosome 9 inversion was recorded.

Conclusion: The frequency of chromosomal abnormalities and the age of couples with infertility suggest that cytogenetic analysis is essential for the timely detection of the infertility cause. It has special significance for couples who decide to have assisted fertilization.