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

Background & Objective: Recurrent pregnancy loss (RPL) is the occurrence of three or more miscarriages before the ۲۰th week of pregnancy. Thrombophilia factors are one of the common causes of RPL.Materials & Methods: This retrospective study was performed on women with miscarriages. ۶۲۰ 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 (۲۱۲) and RPL group (۱۸۰). Cytogenetics analysis and thrombophilia factors polymorphism tests were performed for all patients.Results: In the analysis, none of the studied polymorphisms (MTHFR ۶۷۷ C⁄T /Factor V Leiden /Prothrombin G۲۰۲۱۰A/ ACE I/D/ PAI-۱) showed a significant relationship between Control and RPL groups (P-value ˃ ۰.۰۵). Cytogenetic analysis showed ۲ numerical and ۹ structural abnormalities among both groups. Statistical analysis indicated a significant association between the number of abortions and age (P value= ۰.۰۰۵, r= ۰.۱۳۹). We even realized that there was a significant relationship between polymorphism number and recurrent number of miscarriages (P value= ۰.۰۱۸, r= ۰.۶).Conclusion: 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 G۲۰۲۱۰A, MTHFR C۶۷۷T, ACE I/D, and PAI-۱ and cytogenetic analysis in patients with a history of RPL is not recommended.

Keywords:

Thrombophilia factors , Cytogenetic , Recurrent Pregnancy Loss , Polymorphism , Chromosomal Abnormalities