The Role of Thrombophilia Factors Polymorphism and Cytogenetic Analysis in Recurrent Pregnancy Loss (RPL) in Northeastern Iran

Background &  Recurrent pregnancy loss (RPL) is the occurrence of three or more miscarriages before the 20th week of pregnancy. Thrombophilia factors are one of the common causes of RPL.Materials &  This retrospective study was performed on women with miscarriages. 620 patients’ documents with pregnancy loss were investigated. Based on the number of pregnancy loss, the women were divided into a control group with less than three miscarriages (212) and RPL group (180). Cytogenetics analysis and thrombophilia factors polymorphism tests were performed for all patients. In the analysis, none of the studied polymorphisms (MTHFR 677 C⁄T /Factor V Leiden /Prothrombin G20210A/ ACE I/D/ PAI-1) showed a significant relationship between Control and RPL groups (P-value ˃ 0.05). Cytogenetic analysis showed 2 numerical and 9 structural abnormalities among both groups. Statistical analysis indicated a significant association between the number of abortions and age (P value= 0.005, r= 0.139). We even realized that there was a significant relationship between polymorphism number and recurrent number of miscarriages (P value= 0.018, r= 0.6). We showed that polymorphisms analysis for thrombophilia factors is a more precious test than cytogenetics analysis (study of the banded pattern of chromosomes during metaphase of the cell cycle). We even indicated that no association was found between thrombophilia polymorphisms in the control and RPL groups. This means that screening for Factor V Leiden, prothrombin G20210A, MTHFR C677T, ACE I/D, and PAI-1 and cytogenetic analysis in patients with a history of RPL is not recommended.