Thrombophilia Gene Mutations in Georgian Women with Recurrent Pregnancy Loss (RPL)

Jenaro Kristesashvili 1,2 Nino Kochiashvili 4 Nino Pirtskhelani 3,4 Ketevan Kartvelishvili 3,4 Maia Janelidze 5 Madlena Khvichia 5 Maia Jashiashvili 2
1Obstetric, Gynecology, Reproductology, I.Javakhishvili Tbilisi State University, Georgia
2Pregnancy Loss Management, Center for Reproductive Medicine Universe, Georgia
3Genetics, Tbilisi State Medical University, Georgia
4Forensic Biology (DNA), National Forensics Bureau of Georgia, Georgia
5Obstetric, Gynecology, IQ-Clinic, Georgia

Background

Inherited thrombophilias are implicated as a possible cause of RPL. Prevalence of each hereditary thrombophilia varies in different ethnic groups.

Objective

Detection of frequency and types of thrombophilia gene mutations (GM) in Georgian women with RPL with and without personal or/and family history of thrombosis.

Methods

191 Georgian women (aged 22-41yy.) with different number and trimester of pregnancy loss (PL) were investigated in 2011-16. In all cases common causes of RPL and the following thrombophilia GM were detected by PCR method: Factor V Leiden (FVL) GM G1691A, Prothrombin Factor II (FII) GM G20210A and MTHFR GM C677T. Investigated women were divided into I group (130) with and II group (61) without personal or/and family history of thrombosis. Control group (CG) - 72 women with > 2 livebirths, without any pregnancy complications, miscarriages or/and personal and family history of thrombosis.

Results

Prevalence of all GM (separately or in combination) was nearly the same in both groups - 23,8% in I group and 23% in II group. In common investigated group GM prevalence (23,6%) was significantly higher (p<0.01) than in control group (9,7%).

Prevalence of FVL GM was higher in I group (10,8%) compared to II group (4,9%) (CG – 2,8%). Prevalence of FII GM – 6,15% in I group and 8,2% in II group, (CG - 4,2%). Prevalence of MTHFR-homozygote – 12,3% in I group and 11,5% in II group (CG – 2,8%). Prevalence of combined mutations didn’t differ significantly between groups – 9,2% in I group and 8,2% in II group (CG – 2,8%).

After investigation, 23 women with GM became pregnant and by adequate treatment pregnancies were successful.

Conclusion

Prevalence of investigated thrombophilia GM in Georgian women is quite similar to Caucasian population. Received results indicate on reasonability of thrombophilia GM investigation in all Georgian women with RPL, despite of personal or/and family history of thrombosis. Especially taking into account that timely started adequate treatment is very successful.









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