Thrombophilia during Pregancy: Diagnosis and Treatment

By (embryologist) and (babygest staff).
Last Update: 09/10/2019

Thrombophilia is a disorder in the clotting of blood or coagulation that can cause thrombosis: blood clots that form and block blood vessels.

Sometimes a woman does not know she has thrombophilia until she has a health problem that indicates alterations in blood clotting. For example repeated miscarriages.

Thrombophilia is one of the main causes of repeated gestational losses. Therefore, specific studies are needed to find out if a woman suffers any type of thrombophilia and to apply an effective treatment that allows carrying a pregnancy to terms.

What is thrombophilia?

Thrombophilia is a disease caused by an alteration in the coagulation mechanisms of the blood, which predisposes to the development of thrombotic phenomena, such as the formation of arterial or venous clots.

In most cases, thrombophilia has no apparent symptoms in the person. However, the risk of thrombosis increases in pregnant women due to physiological changes in hypercoagulability that occur during pregnancy.

Pregnant women with thrombophilia who do not undergo any treatment have an increased risk of developing clots that block blood vessels and make it difficult for oxygen and nutrients to reach the fetus, endangering the life of the fetus.

Depending on the cause of thrombophilia, it is possible to find two large groups.

Hereditary or genetic thrombophilia

Hereditary thrombophilias are due to mutations in the genes of coagulation factors or to the lack of physiological anticoagulants that regulate thrombin formation.

In the following section we will name the most common genetic alterations that cause this type of thrombophilia:

  • Antithrombin deficiency
  • Protein C deficiency
  • Protein S deficiency
  • G1691A mutation in the factor V Leiden gene
  • G20210A mutation in the prothrombin gene
  • C677T homozygous mutation in the gene for the enzyme methylenetrahydrofolator reductase (MTHFR)

Acquired thrombophilia

Acquired thrombophilias are associated with the presence of antibodies that are directed against a component of the body itself (autoantibodies). Therefore, they are considered to be autoimmune diseases.

The most common is antiphospholipid syndrome (APS), a primary thrombophilia. It is a systemic autoimmune disease characterized by a tendency to hypercoagulability and inflammation, and is frequently associated with obstetric complications.

In fact, the APS is responsible for approximately 15% of recurrent abortions. The most important antiphospholipid antibodies responsible for thrombosis in the placenta are the lupus anticoagulant, anti-cardiolipin antibodies and beta2-glycoprotein1.

On the other hand, there are other types of acquired or secondary thrombophilias that are related to dietary disorders, malabsorption or metabolic disorders, such as celiac disease or insulin resistance.

How is thrombophilia detected?

To make a diagnosis of thrombophilia, a blood test is usually done to check blood clotting levels first.

It will also be necessary to make a more specific study of thrombophilias that includes genetic and/or coagulative analysis of the following factors:

  • Standard antibodies
  • Anti-protein Z antibodies
  • Anti-anexin V antibodies
  • Factor V Leiden
  • Factor VIII
  • Factor XIII
  • ABO Genotype
  • Homocysteine
  • Polymorphism of factor XII (46 C/T)

It is most likely that little by little new genetic factors and polymorphisms that can alter blood coagulation will be discovered, so the different diagnostic tests on the market are constantly being updated.

In general, a thrombophilia study is not usually done unless there is some indication for it, such as a thrombotic episode, family history, recurrent miscarriages, etc.

Indications for a thrombophilia study

In relation to pregnancy and gestational loss, experts consider studying thrombophilia when the following situations occur:

  • Two or more miscarriages before 10 weeks of pregnancy.
  • Two or more miscarriages before 10 weeks of pregnancy.
  • Premature delivery of less than 34 weeks gestation.
  • Intrauterine fetal death.
  • Severe or early pre-eclampsia.
  • Premature detachment of the placenta (placental abruptio).

Most people with thrombophilia have no signs or symptoms, so it is difficult to diagnose before a thrombotic event occurs.

Treatment During Pregnancy

Once thrombophilia has been diagnosed, it is important for the gynaecologist to collaborate with the haematologist in order to establish an appropriate treatment that allows a pregnancy to be achieved at term.

Anticoagulants, such as aspirin and heparin, are most commonly prescribed before and throughout pregnancy.

The most appropriate drug is low molecular weight heparin. Thanks to its administration, the prognosis of these women has improved considerably, not only by reducing the risk of abortion, but also by solving many cases of repeated implantation failures.

This is due to all the processes in which heparin acts:

  • It has an anticoagulant effect and favours adequate irrigation by the placenta.
  • It has anti-inflammatory and immunomodulatory properties.
  • It interacts with adhesion molecules that participate in the implantation of embryos.

In terms of pregnancy follow-up, the patient should have all recommended ultrasounds to assess the growth of the baby, the amount of amniotic fluid and the functioning of the placenta.

Occasionally, the specialist may order rest depending on the results obtained. In addition, the patient should also have blood tests to evaluate anticoagulant function.

Assisted Reproduction

Thrombophilia may be diagnosed during a process of assisted reproduction. Failing to get pregnant, couples go to a fertility clinic where they begin testing for the cause of not being able to conceive.

Thrombophilia tests are usually performed after several in vitro fertilization (IVF) failures without any other apparent cause.

It is important to study thrombophilias before resorting to ovodonation, unless the cause of infertility is the low ovarian reserve. If donor eggs are used in women with thrombophilia, implantation failure and recurrent miscarriages will occur as well.

If it is found that the patient suffers from thrombophilia, the strategy to follow will be to schedule aspirin and heparin during controlled ovarian stimulation.

In doing so, a high percentage of women are able to become pregnant and a healthy child is born.

And still, some women still have gestational losses even with anticoagulant medication and are unable to gestate a baby at term. At this point, the only way to have a biological child will be surrogacy.

FAQs from users

Why does Pregnancy increase the risk of thrombosis?

By Zaira Salvador (embryologist).

This is because a woman's body suffers from various changes, including changes in blood composition:

  • Incease in the synthesis of coagulation factors
  • Increased resistance of activated protein C
  • Decrease of natural anticoagulants such as protein S
  • More venous stasis

All these variations lead to the production of thrombin, which can trigger a thrombosis in the vessels of the placenta and halt fetal development.

What special care should be taken in a pregnancy with thrombophilia?

By Zaira Salvador (embryologist).

In addition to all the prenatal checkups that are routinely done in all pregnancies, women with thrombophilia will need to keep track of their heparin treatment at different times. For this purpose, the following tests are performed:

Doppler ultrasound
to check that blood flow in the umbilical artery is adequate and that the baby receives sufficient nutrients and oxygen. It also serves to see fetal growth and development.
Heart rate monitoring
checks the baby's heart rate and its variation as the baby moves. It is used to ensure that the baby receives enough oxygen.
Blood analysis
to verify that anticoagulation is within the expected therapeutic range.

Is there any type of diet in order to cure thrombophilia?

By Zaira Salvador (embryologist).

There is no specific diet that can cure thrombophilia. However, some foods may help strengthen the immune system and improve cardiovascular health.

For example, lemon is useful to eliminate toxins, olive oil reduces the level of bad cholesterol or LDL in the blood, avocado has multiple benefits, garlic has anticoagulant effects, artichoke helps prevent thrombus and embolisms, celery is rich in antioxidants and phytoelements that regulate blood pressure, cranberry juice improves blood circulation, red wine reduces the possibility of heart attack or thrombosis, carrot prevents heart attacks and balances cholesterol levels, and so on.

Suggested for you

If you need more information about surrogacy and what its indications are, we recommend you enter the following article: What is surrogacy?

In addition to thrombophilia, there are other diseases that cause an inability to gestate. You can find them all here: Medical contraindications to pregancy- when to use a surrogate.

Our editors have made great efforts to create this content for you. By sharing this post, you are helping us to keep ourselves motivated to work even harder.

References

Authors and contributors

 Zaira Salvador
Zaira Salvador
Embryologist
Bachelor's Degree in Biotechnology from the Polytechnic University of Valencia (UPV). Embryologist specializing in Assisted Procreation, with a Master's Degree in Biotechnology of Human Assisted Reproduction from the University of Valencia (UV) and the Valencian Infertility Institute (IVI). More information about Zaira Salvador
License: 3185-CV
Adapted into english by:
 Romina Packan
Romina Packan
Babygest Staff
Editor for the Babygest magazine in English and German. More information about Romina Packan

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