Evaluation of peripheral blood chromosome analysis and thrombophilia panel results in patients with recurrent pregnancy loss

In this study, the aim was to evaluate the results of peripheral blood chromosomal analyses and thrombophilia panel tests in patients who presented with recurrent pregnancy loss (habitual abortion) from Diyarbakır and surrounding provinces. The primary objectives of the research include identifying the possible causes of miscarriages, comparing the obtained parameters with the general Turkish population, and shedding light on future studies by investigating the reasons behind any observed differences. Blood samples were collected from female patients with recurrent pregnancy loss in EDTA and heparin tubes for chromosomal and thrombophilia testing. The collected samples were stored at +4°C until the analyses were completed. Initially, samples were obtained from 16 patients.DNA isolation was performed using the HiGenoMB isolation kit.For the thrombophilia panel, the GeneMap Thrombophilia kit was used. The panel included analyses of FII, FV, FXII, C677T, A1298C, and PAI mutation. mutation analysis was performed using Real-Time PCR.As a result of the thrombophilia panel analysis, FII and FV mutations were detected in a heterozygous form in some individuals. These mutations were found to play a significant role in recurrent pregnancy loss. It was concluded that individuals carrying FII and FV gene mutations have an increased risk of miscarriage.