Factor V gene mutations and recurrent pregnancy loss

الملخص EN

Background : Recurrent pregnancy loss (RPL) is one of the most frustrating and difficult areas in reproductive medicine because the etiology is often unknown and there are few evidence-based diagnostic and treatment strategies.

Recurrent miscarriage refers to the occurrence of three or more consecutive losses of clinically recognized pregnancies prior to the 20th week of gestation (ectopic, molar, and biochemical pregnancies are not included).

Inherited thrombophilias can result from gene mutations involved in coagulation.

A number of gene mutations are associated with recurrent pregnancy loss.

These include Factor V Leiden, Factor II Prothrombin, Fibrinogen, Factor XIII, fibrinolysis (PAI-1) and methylenetetrahydrofolatereductase gene mutations.

During pregnancy, the thrombogenic potential of these inherited disorders is enhanced because of the hypercoagulable state produced by normal pregnancy-associated changes in several coagulation factors.

Aim of the Study: The aim of the work is to assess the association between factor V Leiden and factor V HR2 gene haplotype and unexplained recurrent pregnancy loss.

Patients and Methods: This study was conducted on 310 patients classified into 2 groups.

The study group was 185 patients and control was 125 patients.

All patients were subjected for DNA extraction and factor VLeiden and factor V HR2 gene mutation by PCR.

The results were collected statistically analyzed and compared.

Conclusion and Recommendations: We recommend screening for fetal thrombophilia in the couples with recurrent pregnancy loss by studying the thrombophilic gene mutations in the affected women with recurrent pregnancy loss and their male partners.