Thrombophilic polymorphisms are common in women with fetal loss without apparent cause

An association between fetal loss and thrombophilia has recently been descr ibed but has not been yet fully elucidated. We have evaluated prospectively the prevalence of the three common thrombophilic polymorphisms (TP) factor V G1691A (Leiden), thermolabile-methyl-enetetrahydrofolate reductase (TL-M THFR) C677T and factor II G20210A mutations, in 76 women with fetal loss (g reater than or equal to 3 in first, greater than or equal to 2 in second, g reater than or equal to 1 in third trimester) without apparent cause and 10 6 controls without fetal loss. Thirty seven out of 76 (49%) of the women in the fetal loss group had at least one TP compared to only 23/106 (22%) in the control group Cp = 0.0001). Factor V-Leiden was more common in the feta l loss group 24/76 (32%) compared to the control group 11/106 (10%) (OR = 4 .0, 95% CI: 1.8-8.8, p <0.001). Five of the 76 patients (7%) were homozygou s for factor V-Leiden compared to none of the controls (p = 0.012). A trend , albeit no statistically significant difference was found between women wi th fetal loss and control groups regarding factor LI G20210A (8% vs. 4% res pectively, OR = 2.2, 95% CI: 0.6-8.0, p = 0.23) and MTHFR C677T (18% vs. 10 % respectively, OR = 1.95, 95% CI: 0.83-4.6, p = 0.12). Combined TP were do cumented in 6/76 (8%) patients compared to 1/106 (1%) in controls (OR = 9.0 , 95% CI: 1.1-76, p = 0.02). Second or third trimester fetal loss were more common cause of pregnancy termination in 37 patients with TP compared to 3 9 patients without TP (57/158 (36%) vs. 23/135 (17%) respectively, (p = 0.0 004). Thrombophilic polymorphisms are common in women with fetal loss witho ut apparent cause and are associated with late pregnancy wastage. Combinati ons of TP increase the risk for fetal loss.