Thrombophilia Screening

Thrombophilia is logically associated with miscarriages and has less or no implication in difficulty of conception.

Thrombophilia increases the possibility of endometrium vessel clotting at the implantation site resulting in obstruction of blood flow in the vessels and inadequate supply of nutrients to the developing embryo. Histological examination of products of conception show endometrial blood vessel congestion, rupture of wall lining and hemorrhaging followed by necrosis at the implantation site. This is mainly attributed to defective coagulation factors due to genetic predisposition to thrombophilia inherited from one or both parents of the female partner. Thrombophilia is treated by administration of anticoagulants.

Thing are more complicated when as specialized research in Locus Medicus is indicating, infectious factors such as cytomegalovirus are implicated in the creation of the problem by infecting the blood vessels. In these cases specialized antiviral treatment is also administered.

Thrombophilia testing during infertility investigation and pregnancy.

While there is a large number of conventional biochemical tests and genetic coagulation factor mutation screening (find a complete list of thrombophilia genetic screening tests here…), especially for infertility diagnosis we believe that the most important is a combination of 2 or more of the following tests depending on each case and on the medical and family history of the prospective mother.

Classical testing:
  • APC resistance test
Genetic Screening:
  • Factor V Leiden mutation
  • MTHFR C677T mutation 
  • PAI-1 (plasminogen activator inhibitor activator) mutation 
  • Factor II Prothrombin (PT) G20210A mutation 
  • MTHFR A1298C mutation 

Other Specialized thrombophilia testing:

  • Thromboelastography (TEG) assay.  

Classic analysis of coagulability relies on tests such as prothrombin time (PT) or international normalized ratio (INR) and activated partial thromboplastin time (aPTT) to monitor the extrinsic and intrinsic coagulation pathways. A more complete assessment, however, can often be obtained using thromboelastography (TEG), a coagulation assay that evaluates the efficiency of clot formation, as well as the viscoelastic properties of the clot. It provides information regarding hemostasis as a dynamic process acting as a real-time  ex-vivo simulation of clot formation and lysis at the time of sample collection.

REFERENCES
  1. Trapani ML. Thromboelastography: Current Applications, Future Directions. Open Journal of Anesthesiology, 2013, 3, 23-27.