Introduction: This was a retrospective study performed in order to investigate the distribution of various autoimmune and thrombophilic causes including gene mutations in the Greek population that have been associated in the literature with recurrent pregnancy loss (RPL), the latter considered after at least two and not three fisrt trimester embryo losses.
Materials and Methods: We included in this study the last 80 couples that entered our Recurrent Pregnancy Unit which had at least two consecutive miscarriages before the 13th week of gestation with no other pregnancy apart from induced abortions. They had been checked for: phospholipid autoimmunity (anticardiolipins, β2GPI and serine antiphoSPSholipid antibodies (IgG and IgM)), ANA, antithyroid antibodies (AA), immunoglobulins (IgG, IgA and IgM) and for thrombophilia incuding protein C, protein S, activated protein C resistance (APC-R), antithrombin III, homocystein, lupus anticoagulant and the following gene mutations: FVLeiden, Prothrombin 20210A, MTHFR T677T (homozygous or double heterozygous for C677T and A1298C), PAI-1 4G/5G and the GPI-α gene mutation.
Results: At least one thrombophilic factor was found in 19 patients (24%), an autoimmune factor in 7 (9%), ANA (+) >1/160 in 14 (17%), AA in 19 (25%), increased IgG in 5 (62%). 11 had a possible anatomic factor (18%). Five out of the 19 patients (26%) with thrombophilia had a thrombophilic gene mutation with no phenotypic findings in peripheral blood. All percentages were calculated with respect to the number of patients searched for the specific factor.
Conclusion: The distribution of the above factors is discussed and their possible role in RPL. The high percentage of thrombophilia gene mutations among patients with a thrombophilic factor is mainly discussed as well as the need to include those expensive tests in the work-up of RPL.