Inherited thrombophilia in republic of Georgia women with or without a personal and/or family history of thrombosis and unexplained recurrent pregnancy loss.

OBJECTIVE

Inherited thrombophilia is a recognized, albeit globally debated, risk factor for recurrent pregnancy loss (RPL). This study investigates the prevalence of inherited thrombophilia gene variants in Georgian women with unexplained RPL, comparing those with and without a personal or family history of thrombosis.

MATERIALS AND

METHODS

A cohort of 191 Georgian women with unexplained RPL (≥2 miscarriages) was divided into Group I (n = 130, with personal/family history of thrombosis) and Group II (n = 61, without history). A control group (n = 72) of women with ≥2 live births and no history of complications was included. Genetic analyses for Factor V Leiden (FVL G1691A), Prothrombin (FII G20210A), MTHFR (C677T) were performed. Differences were assessed using Fisher's exact test.

RESULTS

Prevalence of FVL, FII, and MTHFR (677TT) was 10.8%, 6.15%, and 12.3% in Group I, 4.9%, 8.2%, and 11.5% in Group II, respectively. Statistical analyses confirmed MTHFR 677TT was significantly more prevalent in RPL cases than controls (p = 0.04). However, thrombotic history was a poor predictor of variant carriage for FII (p = 0.61) and MTHFR (p = 0.86). FVL demonstrated a trend toward significance in history-positive patients (p = 0.06). Hyperhomocysteinemia (>12 μmol/L) was present in 51.4% of MTHFR (677CT/TT) carriers.

CONCLUSION

Inherited thrombophilia gene mutations and polymorphism prevalence is higher in Georgian women with unexplained RPL than in healthy controls, regardless of thrombotic history. While international guidelines for routine screening remain conservative, clinical history alone is insufficient predictor for suspected thrombophilia. Our findings support individualized thrombophilia screening as part of comprehensive diagnostic workup for unexplained RPL in this regional context.