Background: Adverce pregnancy outcome is multifactorial condition. Many studies reported the possible relationship between thrombophilia and adverse pregnancy outcome especially pregnancy loss. Inherited thrombophilias (mutations of the Factor V Leiden (FVL) G1691A gene, the methylentetrahydrofolate reductase (MTHFR) C677T gene and Factor II gene Prothrombin G20210A) are risk factors for thromboembolic events.

Aims: The aim of the study was to examine the representation of thrombophilic mutations in women with pregnancy loss and healthy controls.

Methods: In this case-control study we evaluated 79 women, divided in two groups. The study group included 43 women with history of pregnancy loss (missed abortion, blighted ovum, miscarriage in the first or second trimester, foetus mortus in utero). The control group included 36 women, age matched, who gave birth to at least one healthy baby without obstetric complications. All of the women included in the study have signed the informed consent approved by the Ethical Committee of the Medical faculty in Skopje. Presence of gene mutations for prothrombin G20210A, FVL and MTHFR C677T was examined in both groups.

Results: Prothrombin G20210A heterozygous was found in 23.5% of the study group vs. 5.5% of the control group; FVL heterozygous was found in 23.5% of the study group vs. 2.8% of the control group; MTHFR homozygous was found in 48.8% of the study group vs. 5.5.% of the control group with a significant statistical difference (p< 0.05).

Conclusions: The presence of thrombophilic mutations may predispose to pregnancy loss.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/thrombophilic-mutations-in-macedonian-women-with-adverse-pregnancy-outcome/