Evaluation of Chromosomal Structural Anomalies in Fertility Disorders
<i>Background and objectives:</i> 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. <i>Materials and Methods:</i> The aim of the study w...
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| Format: | Article |
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MDPI AG
2021-01-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1010-660X/57/1/37 |
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| author | Danielius Serapinas Emilija Valantinavičienė Eglė Machtejevienė Agnė Bartkevičiūtė Daiva Bartkevičienė |
| author_facet | Danielius Serapinas Emilija Valantinavičienė Eglė Machtejevienė Agnė Bartkevičiūtė Daiva Bartkevičienė |
| author_sort | Danielius Serapinas |
| collection | DOAJ |
| description | <i>Background and objectives:</i> 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. <i>Materials and Methods:</i> The aim of the study was to identify the range and frequency of chromosomal aberrations in couples (<i>n</i> = 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 (<i>p</i> < 0.05). <i>Results:</i> There were 6.6% (<i>n</i> = 13) structural changes observed in the karyotype tests. Chromosomal aberrations were found in 3% (<i>n</i> = 6) of the subjects, while 3.6% (<i>n</i> = 7) of them had chromosomal length polymorphisms. No difference was found between the aberration frequency in the karyotypes of men and women (<i>p</i> > 0.05). The most common aberrations were balanced translocations (23.1%, <i>n</i> = 3) which accounted for 15.4% of the reciprocal (<i>n</i> = 2) and 7.7% of the Robertsonian type (<i>n</i> = 1) of translocations. The most frequent aberrations were found in couples with the inability to conceive (42.9% (<i>n</i> = 3), <i>p =</i> 0.031). The childless couples and those with recurrent miscarriages showed an aberration rate of 8.2% (<i>n</i> = 5), while in the couples with at least one child it was 16.1% (<i>n</i> = 5). The group of couples unable to conceive had a significantly higher aberration rate of 28.6% (<i>n</i> = 2), <i>p =</i> 0.029. Miscarriages in partners’ families accounted for 8.1%. Miscarriages on the female side of the family accounted for 4.5% (<i>n</i> = 9), on the male side it accounted for 2.5% (<i>n</i> = 5) and on both sides it accounted for 1.1% (<i>n</i> = 2). There were no statistically significant differences observed between the female and male sides (<i>p</i> > 0.05). The miscarriages observed in the second group of couples (childless with ≥2 miscarriages) were more frequent at 18.1% (<i>n</i> = 11), in the third group (having children ≥2 miscarriages) they were less frequent at 12.9% (<i>n</i> = 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. <i>Conclusions:</i> 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. |
| first_indexed | 2024-03-12T09:44:20Z |
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| institution | Directory Open Access Journal |
| issn | 1010-660X |
| language | English |
| last_indexed | 2024-03-12T09:44:20Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
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| spelling | doaj.art-9ed19e0ebf104cd3a014a9fdc407785a2023-09-02T13:01:12ZengMDPI AGMedicina1010-660X2021-01-0157373710.3390/medicina57010037Evaluation of Chromosomal Structural Anomalies in Fertility DisordersDanielius Serapinas0Emilija Valantinavičienė1Eglė Machtejevienė2Agnė Bartkevičiūtė3Daiva Bartkevičienė4Department of Family Medicine, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaDepartment of Family Medicine, Lithuanian University of Health Sciences, LT-50161 Kaunas, LithuaniaDepartment of Obstetrics and Gynaecology, Lithuanian University of Health Sciences, LT- 44307 Kaunas, LithuaniaClinic of Infectious Diseases and Dermatovenerology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, LithuaniaClinic of Obstetrics and Gynecology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania<i>Background and objectives:</i> 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. <i>Materials and Methods:</i> The aim of the study was to identify the range and frequency of chromosomal aberrations in couples (<i>n</i> = 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 (<i>p</i> < 0.05). <i>Results:</i> There were 6.6% (<i>n</i> = 13) structural changes observed in the karyotype tests. Chromosomal aberrations were found in 3% (<i>n</i> = 6) of the subjects, while 3.6% (<i>n</i> = 7) of them had chromosomal length polymorphisms. No difference was found between the aberration frequency in the karyotypes of men and women (<i>p</i> > 0.05). The most common aberrations were balanced translocations (23.1%, <i>n</i> = 3) which accounted for 15.4% of the reciprocal (<i>n</i> = 2) and 7.7% of the Robertsonian type (<i>n</i> = 1) of translocations. The most frequent aberrations were found in couples with the inability to conceive (42.9% (<i>n</i> = 3), <i>p =</i> 0.031). The childless couples and those with recurrent miscarriages showed an aberration rate of 8.2% (<i>n</i> = 5), while in the couples with at least one child it was 16.1% (<i>n</i> = 5). The group of couples unable to conceive had a significantly higher aberration rate of 28.6% (<i>n</i> = 2), <i>p =</i> 0.029. Miscarriages in partners’ families accounted for 8.1%. Miscarriages on the female side of the family accounted for 4.5% (<i>n</i> = 9), on the male side it accounted for 2.5% (<i>n</i> = 5) and on both sides it accounted for 1.1% (<i>n</i> = 2). There were no statistically significant differences observed between the female and male sides (<i>p</i> > 0.05). The miscarriages observed in the second group of couples (childless with ≥2 miscarriages) were more frequent at 18.1% (<i>n</i> = 11), in the third group (having children ≥2 miscarriages) they were less frequent at 12.9% (<i>n</i> = 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. <i>Conclusions:</i> 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.https://www.mdpi.com/1010-660X/57/1/37chromosomal mutationsinfertilitygenetic counselling |
| spellingShingle | Danielius Serapinas Emilija Valantinavičienė Eglė Machtejevienė Agnė Bartkevičiūtė Daiva Bartkevičienė Evaluation of Chromosomal Structural Anomalies in Fertility Disorders Medicina chromosomal mutations infertility genetic counselling |
| title | Evaluation of Chromosomal Structural Anomalies in Fertility Disorders |
| title_full | Evaluation of Chromosomal Structural Anomalies in Fertility Disorders |
| title_fullStr | Evaluation of Chromosomal Structural Anomalies in Fertility Disorders |
| title_full_unstemmed | Evaluation of Chromosomal Structural Anomalies in Fertility Disorders |
| title_short | Evaluation of Chromosomal Structural Anomalies in Fertility Disorders |
| title_sort | evaluation of chromosomal structural anomalies in fertility disorders |
| topic | chromosomal mutations infertility genetic counselling |
| url | https://www.mdpi.com/1010-660X/57/1/37 |
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