{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T23:59:54Z","timestamp":1793231994448,"version":"4.5.0"},"reference-count":35,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,1,4]],"date-time":"2021-01-04T00:00:00Z","timestamp":1609718400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>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 &lt; 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 &gt; 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\u2019 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 &gt; 0.05). The miscarriages observed in the second group of couples (childless with \u22652 miscarriages) were more frequent at 18.1% (n = 11), in the third group (having children \u22652 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 \u22652 miscarriages, and the lowest one was found in a childless group of subjects with \u22652 miscarriages. The miscarriage rate in partner families was 8.1%; however, no difference was found between the male and female sides.<\/jats:p>","DOI":"10.3390\/medicina57010037","type":"journal-article","created":{"date-parts":[[2021,1,4]],"date-time":"2021-01-04T08:35:19Z","timestamp":1609749319000},"page":"37","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Evaluation of Chromosomal Structural Anomalies in Fertility Disorders"],"prefix":"10.3390","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2976-0682","authenticated-orcid":false,"given":"Danielius","family":"Serapinas","sequence":"first","affiliation":[{"name":"Department of Family Medicine, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"},{"name":"Institute of Psychology, Faculty of Human and Social Studies, Mykolas Romeris University, LT -08303 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilija","family":"Valantinavi\u010dien\u0117","sequence":"additional","affiliation":[{"name":"Department of Family Medicine, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6114-0312","authenticated-orcid":false,"given":"Egl\u0117","family":"Machtejevien\u0117","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Lithuanian University of Health Sciences, LT- 44307 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u0117","family":"Bartkevi\u010di\u016bt\u0117","sequence":"additional","affiliation":[{"name":"Clinic of Infectious Diseases and Dermatovenerology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daiva","family":"Bartkevi\u010dien\u0117","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynecology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,4]]},"reference":[{"key":"ref_1","unstructured":"(2017, November 05). 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