Pregnancy is a physiological state that requires a perfect balance of all organs and systems. However, certain systems of the human body are more prone to dysregulation during pregnancy, particularly the immune system, which comes in contact with multiple germs and needs to eradicate infectious agents while avoiding a state of hyperactivation that might do more harm than good, particularly to the fetus, which is, essentially, half self and half non-self. Similarly, the coagulation system undergoes significant strain during pregnancy, exhibiting a state of physiological hypercoagulability, coupled with endothelial activation and venous stasis. If these changes occur on a particular genetic background, the balance between physiological and pathological can easily be altered and thrombophilia can become manifest, associating adverse pregnancy outcomes.
Pregnancy is a physiological state that requires a perfect balance of all organs and systems. However, certain systems of the human body are more prone to dysregulation during pregnancy, particularly the immune system, which comes in contact with multiple germs and needs to eradicate infectious agents while avoiding a state of hyperactivation that might do more harm than good, particularly to the fetus, which is, essentially, half self and half non-self. Similarly, the coagulation system undergoes significant strain during pregnancy, exhibiting a state of physiological hypercoagulability, coupled with endothelial activation and venous stasis. If these changes occur on a particular genetic background, the balance between physiological and pathological can easily be altered and thrombophilia can become manifest, associating adverse pregnancy outcomes. To determine the prevalence of these two types of disorders in the pregnant female population in Romania, we have implemented a study funded through the Norwegian Financial Mechanism to offer free access to infectious diseases and thrombophilia screening for pregnant females from all over Romania. To date, we have successfully screened 500 females for IgM and IgG antibodies to infectious agents associated with adverse pregnancy outcomes, such as Toxoplasma, rubella virus, and cytomegalovirus. Screening for thrombophilia has also been completed, with 1500 female patients included in the project. The study offered specialized obstetrical ultrasound examination and collected information on patients’ medical history, on the prevalence of additional risk factors such as family history of thrombosis, personal history of obstetrical complications, or behaviors such as smoking, drinking alcohol or using drugs. We measured the serum functional activity of proteins S and C, and of antithrombin III, the ratio of activated protein C resistance V, factor V Leiden, lupus anticoagulant panel, along with serum values of homocysteine, and we performed genetic testing to identify mutations in factor V Leiden G1691A (rs6025) and H1299R (haplotype R2, A4070G, rs1800595), prothrombin G20210A (rs1799963), methylene tetrahydrofolate reductase (MTHFR) C677T (rs1801133) and A1298C (rs1801131), factor XIII V34L (G103T, rs5985), plasminogen activator inhibitor-1 (PAI-1) (4G/5G polymorphism), endothelial cell protein C receptor (EPCR) (PROCR) G4600A (rs867186, S219G) and EPCR (PROCR) C4678G (rs9574). The results were communicated directly to the patients, who were also offered counselling from specialists in obstetricsgynecology, hematology, cardiology and infectious diseases, to ensure the complex and complete interdisciplinary management of high-risk pregnancies.