Thrombophilia and getting pregnant.
Thrombophilia and getting pregnant - is it possible?
The causes of infertility are often very complex and not obvious. The source of the problem with getting pregnant may lie in various conditions - sometimes already visible in the initial diagnosis, but often well hidden. One of the causes of infertility and miscarriages is hypercoagulability. It can not only cause problems with conception itself, as thrombophilia also leads to difficulties in maintaining a pregnancy.
What is this disease? Can I get pregnant with thrombophilia and have a healthy baby? How do I treat thrombophilia during pregnancy?
What is thrombophilia?
Thrombophilia is a condition that leads to embolic and thrombotic complications. It can be genetic or result from an acquired propensity to thrombosis. Pregnancy itself increases the risk of thrombosis, due to the physiological increase in blood density during pregnancy. If, in addition, the woman suffers from thrombophilia, the risk increases significantly (1).
The disease is estimated to affect up to 57,000 people a year in Poland, and thrombotic changes resulting from thrombophilia can contribute to increased risk of miscarriage in the first and second trimester of pregnancy and intrauterine fetal demise in the third trimester (2).
Thrombophilia - symptoms
The symptoms of thrombophilia may not be noticeable at first glance. Quite often, it is only during pregnancy that a woman is diagnosed with hypercoagulable blood syndrome. Symptoms of the disease only occur when blood clots form in the blood system, which impede or block the flow of blood through the vessels. Depending on the vessel that is blocked by the clot, this can occur (3):
- deep vein thrombosis - manifested by swelling and increased warmth of the lower limbs, redness of the skin, visible widening of the veins in the lower limbs, pain when walking,
- pulmonary embolism - occurring with increasing dyspnoea, chest pain, cough, haemoptysis, cyanosis, tachycardia and tachypnoea,
- CNS venous thrombosis - accompanied by vomiting, nausea, headaches, decreased muscle strength or paresis, visual, sensory or speech disturbances.
Symptoms of thrombophilia in pregnancy can be equivocal (e.g. significant swelling and pain in the lower limbs, which are also characteristic of a healthy pregnancy).
Therefore, in women who have had difficulty getting pregnant or who have previously miscarried, it is worthwhile to perform a diagnostic before trying to conceive again.
OBSTETRIC COMPLICATIONS
Thrombophilia in pregnancy can increase the risk of obstetric complications ranging from deterioration of umbilical cord flow to miscarriage to fetal demise (4).
Diagnosis of thrombophilia - what tests to perform?
The Polish Gynaecological Society recommends performance of genetic tests for thrombophilia after a failed procedure in vitro and in women after multiple miscarriages (5).
Even a basic morphological examination with smear and prothrombin time determination can show that the blood clotting processes are too fast. In this case, the attending physician will recommend further investigations (6).
The first step in the diagnosis of thrombophilia is to carry out all tests relating to blood clotting processes:
- APTT - a coalin-cephalin time,
- PT - prothrombin time,
- TT - thrombin time,
- fibrinogen levels.
In parallel, the patient undergoes genetic testing, including:
- Leiden mutation test - coagulation factor V in the F5 gene,
- 20210G assay - prothrombin levels in the F2 gene,
- A222V and C677T assays - determination of 5,10-methylenetetrahydrofolate reductase levels in the MTHFR gene.
The doctor may also order an examination:
- protein C and S levels,
- antithrombin levels,
- anticardiolipid antibodies
- and perform tests for lupus.
If a patient is diagnosed with thrombophilia, she is referred to the care of a haematologist, who will take care of her not only during but also after pregnancy.
Congenital and acquired thrombophilia - what impact do they have on trying for a baby?
Both congenital and acquired thrombophilia do not prevent pregnancy and the birth of a healthy baby. However, it is important to be aware that trying for a baby can be difficult and that a pregnancy in a patient with thrombophilia is a high-risk pregnancy from the outset and requires special care throughout.
A woman with thrombophilia who is trying to have a baby should not only consult her gynaecologist regularly, but also a haematologist, who will monitor her blood coagulation indices on an ongoing basis, adjusting her treatment according to her current test results.
Getting pregnant while being treated for thrombophilia - is it possible?
Treatment of thrombophilia does not exclude natural conception or the birth of a healthy baby. Appropriate haematological care during pregnancy will avoid complications and lead to a happy outcome.
This is why it is so important for women who have had a previous miscarriage or suffer from infertility of unknown aetiology to get tested for thrombophilia. This will allow them to prepare in advance and minimise the risk of thrombophilia complications in pregnancy.
Is thrombophilia an indication for IVF?
Neither congenital nor acquired thrombophilia are direct indications for in vitro fertilisation. Natural conception in a woman with thrombophilia, although made more difficult, is still as possible. Therefore, for patients suffering from thrombophilia, IVF is carried out according to the same standards and qualifications as for women who are not burdened with hypercoagulability.
Is thrombophilia hereditary?
The congenital form of this disease is genetically determined. Therefore, it is possible for offspring to inherit thrombophilia if one of the parents carries a gene mutation associated with the congenital form of hypercoagulability.
BIBLIOGRAPHY
- Bałajewicz-Nowak, M., Pityński, K., & Milewicz, T. (2015). Polymorphisms 1692 G> A (Leiden factor) and 1328 T> C of the coagulation factor V gene and the incidence of recurrent miscarriage. Polish Gynaecology, 86(1).
- GRAŻYNA, Kurzawińska, AGNIESZKA, Seremak-Mrozikiewicz, et KRZYSZTOF, Drews. Congenital thrombophilia as a cause of recurrent miscarriages in the first trimester of pregnancy. Ginekol Pol, 2009, vol. 80, p. 657-663.
- KUPFERMINC, Michael J. Thrombophilia and pregnancy. Reproductive Biology and Endocrinology, 2003, vol. 1, no. 1, p. 1-22.
- BRENNER, Benjamin. Thrombophilia and pregnancy complications. Pathophysiology of Haemostasis and Thrombosis, 2006, vol. 35, no 1-2, p. 28-35.
- SEREMAK-MROZIKIEWICZ, Agnieszka. Principles of management and use of thromboprophylaxis in pregnant women with obstetric complications and congenital thrombofilià. Ginekol Pol, 2007, vol. 78, p. 971-976.
- UNDAS, A. Diagnosis of thrombophilia-current recommendations and practice. Laboratory Diagnostics, 2017, vol. 53, no 1A.
Substantive consultation:
Dr Michał Małek - Specialist gynaecologist-obstetrician
Jarosław Kaczyński, MD - Specialist gynaecologist-obstetrician, endocrinologist
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