Cytogenetic analysis in couples with recurrent pregnancy loss
Keywords:Chromosomal abnormalities, Cytogenetics, Recurrent pregnancy loss, Translocation
Background/Aim: Recurrent pregnancy loss (RPL), described as the loss of two or more pregnancies before 24 weeks of pregnancy, remains a concern for both the couples and the clinicians. Genetic factors tend to be strongly linked to reproductive failure among different etiologies. Our goal was to determine the rates and kinds of chromosomal defects in couples who had repeated pregnancy losses and a history of miscarriage in the first trimester. Methods: This cross sectional study was conducted at a single tertiary center over a 3-year period. Couples who visited the outpatient clinic due to recurrent pregnancy loss and underwent tests to investigate the etiology were included in the study. Ages, number of abortions and genetic results of the patients were recorded. A total of 253 pairs had been tested for karyotype. Conventional cytogenetic method was used to identify chromosomal aberrations. Results: Of 506 cases, chromosomal abnormalities were present in 15 (2.9%). Women were more frequently affected than men, with prevalences of 1.9% and 0.98%, respectively. Eight of the 15 cases (53.3%) showed structural deviations and 2 (13.3%) had numerical abnormalities. Additionally, 5 (33.3%) individuals were found to have chromosome variants. Conclusion: Pregnancy loss is a major adverse life event, and the recurring nature of RPL can intensify the grief experienced. Aside from routine analyses of couples on anatomical, endocrine, and infection factors, these findings suggest that cytogenetic testing is required for an accurate approach to determine the cause of recurrent miscarriages.
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