What does the scientific literature say about thrombophilia, which has become a fearful dream for women who want to get pregnant but cannot achieve a successful result as a result of long efforts or who experience miscarriage (abortion) during pregnancy? I have prepared this article for you.

There are two types of thrombophilia. “Hereditary”, that is, transmitted by genes, “acquired”, that is, formed after birth.

In the hereditary type of thrombophilia, there is a problem in the genes passed from mother and/or father to child. The child can be a carrier, that is, the gene has come from only the mother or father, it may be sick, that is, the responsible gene has come from both the mother and the father. While the severity of the disease is mild in the person who is a carrier, it can be severe in the person who is sick. It is known that in case of severe disease, clots accumulate in a vein in any part of the body, and the fragments that break off from this accumulated clot are transported to distant organs such as the lung and brain, causing occlusion of the vessels in that area and consequently tissue death.

During pregnancy, the probability of vein occlusion due to hereditary disease is only 1-2 per 1000 pregnancies. Therefore, routinely requesting these tests from all pregnant women or those considering pregnancy is neither cost-effective nor an accurate indication. Moreover, prospective studies have found either no or very weak association between hereditary thrombophilia and abnormal pregnancy outcomes. These tests should be requested if there is a previous history of vascular occlusion or clotting in the pregnant woman’s history.

Factor V, Factor II (G20210A), Antithrombin, Protein C and Protein S tests are frequently performed for diagnostic purposes. In studies conducted on this subject, which is still controversial today, it has been reported that infant losses during early pregnancy do not increase in individuals who are carriers for Factor II and Factor V genes. Also, methyltetrahydrofolatreductase (MTHFR) deficiency, which is a genetic examination and is frequently examined, causes neither vein occlusion nor early pregnancy loss. Therefore, this test is not recommended. In a meta-analysis published in 2016 on this subject, no finding was found that the use of low molecular weight heparin (LMWH) in cases with hereditary thrombophilia prevents early pregnancy losses. The efficiency factor of the journal in which the study was published is 17.54. Those who follow the scientific literature know very well how high this value is.Again, according to the data of “Cochrane Database”, which is one of the compilations highly valued by us clinicians; Hereditary thrombophilia tests are not SCIENTIFICALly recommended to perform hereditary thrombophilia tests even if a person has experienced conditions that may put the life of the baby and mother at risk, such as growth restriction in the baby, preeclampsia, abruptio placentae, or even experienced infant death in the womb. Because the link between hereditary thrombophilia and these clinical conditions is still unclear, it has not been proven by well-designed studies.

Acquired thrombophilia is more closely associated with recurrent early pregnancy losses. If the patient has a history of 2 or more early pregnancy miscarriages (abortion), first it is proven that the mother does not have anatomical and hormonal disorders and that there is no genetic disorder in the couple, then these tests related to thrombophilia can be performed. This is the recommendation of the American Society for Reproductive Health (ASRM) and the European Society of Human Reproductive and Embryology (ESHRE). Also, even in cases of recurrent pregnancy loss, the probability of a positive Anti-Phospholipid Antibody test is only 5-20%.

In this regard, we as physicians have an important role to play. While informing our patients, we should transfer scientific data. We should not put extra stress on them, and at the same time, we should not endanger their health or put them in financial hardship by giving unnecessary treatments.

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