Background and objectives: Reproductive disorders may occur not only due to environmental factors (air pollution, stressful lifestyle, previous abortions or the use of contraceptives) but also due to genetic factors. Materials and Methods: The aim of the study was to identify the range and frequency of chromosomal aberrations in couples (n = 99) with infertility or recurrent miscarriages in Lithuania. The data were collected from the out-patient medical histories. The couples were divided into three groups based on pregnancy, childbirth and the number of miscarriages. The Chi-square test was used to carry out the statistical analysis, and the statistical significance was (p < 0.05). Results: There were 6.6% (n = 13) structural changes observed in the karyotype tests. Chromosomal aberrations were found in 3% (n = 6) of the subjects, while 3.6% (n = 7) of them had chromosomal length polymorphisms. No difference was found between the aberration frequency in the karyotypes of men and women (p > 0.05). The most common aberrations were balanced translocations (23.1%, n = 3) which accounted for 15.4% of the reciprocal (n = 2) and 7.7% of the Robertsonian type (n = 1) of translocations. The most frequent aberrations were found in couples with the inability to conceive (42.9% (n = 3), p = 0.031). The childless couples and those with recurrent miscarriages showed an aberration rate of 8.2% (n = 5), while in the couples with at least one child it was 16.1% (n = 5). The group of couples unable to conceive had a significantly higher aberration rate of 28.6% (n = 2), p = 0.029. Miscarriages in partners' families accounted for 8.1%. Miscarriages on the female side of the family accounted for 4.5% (n = 9), on the male side it accounted for 2.5% (n = 5) and on both sides it accounted for 1.1% (n = 2). There were no statistically significant differences observed between the female and male sides (p > 0.05). The miscarriages observed in the second group of couples (childless with ≥2 miscarriages) were more frequent at 18.1% (n = 11), in the third group (having children ≥2 miscarriages) they were less frequent at 12.9% (n = 4), while no miscarriages were recorded in the first group of infertile couples. In total, 3% of the identified significant chromosomal aberrations were likely to trigger miscarriages or the inability to conceive. Conclusions: In couples with reproductive disorders, chromosomal mutations and chromosomal length polymorphisms were found at similar rates: 3% vs. 3.6%. The highest aberration rate was found in couples that were unable to conceive, a lower one was found in a group with children and ≥2 miscarriages, and the lowest one was found in a childless group of subjects with ≥2 miscarriages. The miscarriage rate in partner families was 8.1%; however, no difference was found between the male and female sides.
Keywords: chromosomal mutations; genetic counselling; infertility.