Future of prenatal cytogenetic studies: rapid aneuploidy testing or full karyotype

Abstract Thrombophilia is a congenital or acquired disorder of haemostatic imbalance leading to clot formation. Congenital thrombophilia is a result of different genetic polymorphisms in the genes coding for particular elements in coagulation and fibrinolysis processes and is connected with excessive readiness to thrombosis in the carriers the mutated alleles. A higher coagulation activity has been observed in case of pregnant women who are carriers of congenital thrombophilia, when compared to the pre-pregnancy activity. These changes concern first of all utero-placental circulation, and may lead to many complications during pregnancy such as: recurrent miscarriages, intrauterine fetal death in second and third trimester, preeclampsia/eclampsia, intrauterine growth restriction and placental abruption. Numerous research indicates that anticoagulation prophylaxis in pregnant women with the abovementioned complications in medical history might prevent a similar condition in the following pregnancies. What is more, it underlines that administration of low molecular weight heparin and acetylsalicylic acid may improve perinatal outcome in thrombophilic women. However, the notion whether anticoagulant prophylaxis should be applied in women with preeclampsia, fetal hypotrophy or fetal loss remains disputable. Furthermore, the question of when the prophylaxis should start and of its duration remains unanswered. The following summary focuses on congenital thrombophilia in pregnant women with burdened anamnesis and suggested pattern of anticoagulation prophylaxis

Is venous thrombembolism during pregnancy an indication for routine assay of antithrombin activity and antithrombin supplementation?

Summary During pregnancy the concentrations of many coagulation factors are increased what leads to a „physiological” hypercoagulability status and constitutes a natural protection against delivery hemorrhage. These changes may be conducive to venous thrombembolism. Antithrombin is one of the endogenous clotting inhibitors. As a serine protease, it inactivates thrombin and the efficiency of this reaction is intensified by heparin. Acquired antithrombin deficiency is caused by disseminated intravascular coagulation syndrome, deep vein thrombosis, neoplasms, nephritic syndrome, renal failure, liver diseases, long-term estrogen treatment, dialysis or extracorporeal circulation. There are also cases of inherited antithrombin deficiency which leads to thrombophilia. The following study presents a course of pregnancy and postpartum of a woman with deep vein thrombosis and acquired antithrombin deficiency, as well as the applied treatment. The legitimacy of routine assay of antithrombin activity and antithrombin supplementation in pregnant women with thrombosis was considered. This procedure may be helpful when dealing with obese pregnant patients as it is difficulty to identify and establish a therapeutic dose of heparin in their cases. Therapy guidelines for pregnant patients with thrombosis and acquired antithrombin deficiency have not been established yet