Thrombophilia
Testing

Treatment by administering anticoagulants agents (mainly heparin) that inhibit blood clotting, immediately after notification of pregnancy.

Thrombophilia testing

Thrombophilic causes relate mostly to the risk of miscarriage and to a lesser extent – or not at all – to the difficulty of conception.
In these cases, there is an increased possibility of thrombosis of the endometrial vessels in the implantation area, resulting in the inhibition of blood flow in the vessels and the insufficient supply of nutrients to the fetus. In abrasion material of spontaneous miscarriage, at the site of implantation of the fetus, we observe histologically a congestion of the endometrial vessels, rupture of its wall and bleeding, with subsequent necrosis of the feeding area of the fetus. These are mainly attributed to genetic damage of coagulation factors, which have been inherited from one or both of the woman's parents. Treatment effected is by administering substances (mainly heparin) that inhibit blood clotting immediately after notification of pregnancy.

At Locus Medicus Laboratory, in addition to the genetic causes of thrombophilia, we believe that various infectious agents, such as cytomegalovirus (CMV), may be involved in thrombophilia, by infecting blood vessels. We cannot exclude the possibility that the occurrence of relevant laboratory observations, such as the development of antiphospholipid antibodies, taken into account in a history of infertility or spontaneous miscarriages, may be associated with the presence of such viruses.

Here, however, the correlation of thrombophilic risk should be emphasized when it coexists with an immunological factor, resulting in a cumulative or multiplicative risk. Before and after the abrupt development of clots, a characteristic phenomenon is the congestion and dilation of the vessels of the perishable (or pregnant) endometrium. In the immunological etiology, there is a development of necrotic areas with very loose material (not solid) which – in its expansion – entrains blood vessels, resulting in their rupture, automatic hemorrhagic permeation and the development of detachments, due to filling with blood of the necrotic loose spaces. This is the main reason for the development of detachment in the first trimester of pregnancy.

In this way the view developed from time to time in the literature, that heparin administration can act to improve the immunological factor, is linked.

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Thrombophilia screening tests to investigate infertility.

  • Activated C Protein Resistance Test (APC resistance)
  • Factor V (V-LEIDEN mutation)
  • Homocysteinemia mutation – MTHFR (mutation C6777T)
  • Activated plasminogen inhibitor mutation (PAI-1)
  • Factor II – Prothrombin (mutation G20210A)
  • Homocysteinemia mutation – MTHFR (mutation A1298C)

While there are a large number of biochemical and molecular tests to detect polymorphisms that cause genetic predisposition to thrombophilia, when investigating infertility we consider the most important tests to control thrombophilia to be a combination of 2 or more of the above, depending on the case and the family history of the examinee.

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