Thrombophilia study and recurrent miscarriage screening: the key fertility test in the development of your pregnancy

Maria had gone through three consecutive miscarriages. She had visited several fertility clinics, undergone hormone tests, hysteroscopies, reproductive immunological tests… but the reason for her losses remained a mystery.

When she came to Vida Fertility, we suggested a thrombophilia test. The result: a genetic mutation that affected her coagulation and put the viability of her pregnancies at risk. With the right treatment, today she is holding her baby in her arms.

We talked to Dr. Alejandra García-Villalba, medical director of Vida Fertility Alicante about the study of thrombophilias and repeated miscarriages in women who have not been able to have a baby.

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What is thrombophilia and how does it affect pregnancy?

Thrombophilia is a condition in which the blood has an increased tendency to clot. This can cause problems in the circulation of the placenta, hindering embryo implantation or increasing the risk of miscarriage.

What types of thrombophilia are there?

There are two main types of thrombophilia:

Hereditary thrombophilia: caused by genetic mutations in clotting factors.
Acquired thrombophilia: such as antiphospholipid syndrome, which can develop over time.

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Main causes of thrombophilia study

Acquired thrombophilia

In some cases, thrombophilia develops throughout life due to medical conditions or external factors. Among the most important are:

Antiphospholipid syndrome (APS): lupus anticoagulant, anticardiolipin, b2-glycoprotein.
Chronic inflammatory diseases

Risk factors that may trigger or aggravate thrombophilia

In addition to genetic or acquired causes, there are certain factors that may increase the risk of developing complications associated with thrombophilia:

Obesity
Smoking
Hormone therapy
Pregnancy: In women with thrombophilia, this may increase the risk of miscarriage or pre-eclampsia.

At Vida Fertility, we perform this study on all patients with recurrent miscarriages or implantation failure, ensuring that each pregnancy has the best possible chance of reaching full term.

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What does the thrombophilia study consist of?

Thrombophilia screening is not based on a standard blood test, but requires specific tests for detection.
These studies provide information not only on alterations in clotting factors, but also on genes involved in the circulatory system and blood coagulation.

Genetic study to detect thrombophilia

Among the most common tests are the detection of:

Factor V Leiden (FV Leiden) or G1691A mutation
This genetic alteration prevents activated protein C from properly performing its function of deactivating thrombin production, leading to excessive blood clotting.
G20210A mutation in the prothrombin gene
This mutation increases the amount of prothrombin, a protein produced in the liver and a precursor of thrombin, which increases the risk of thrombus formation.
C677T mutation of the MTHFR (methylenetetrahydrofolate reductase) gene.
Causes a substitution of cytosine for thymine in DNA, which reduces the body’s ability to process homocysteine, an amino acid linked to an increased risk of venous thrombosis.
A1298C mutation of the MTHFR gene
In this case, an adenosine is replaced by cytosine, affecting the enzymatic function of MTHFR and reducing its efficiency in homocysteine metabolism.

This type of mutation can occur in heterozygosis (one gene from one parent altered and one normal) or in homozygosis (both genes on both chromosomes altered).

Blood coagulation tests

Protein C
This protein inactivates factors Va and VIIIa, essential in the clotting process. Low levels increase the risk of hypercoagulability.
Protein S
Acts as a cofactor for protein C. Its deficiency interferes with the anticoagulant action of the system, increasing the likelihood of clot formation.
Antithrombin (AT)
This molecule neutralises the enzymes responsible for activating coagulation. If its levels are insufficient or its function is impaired, the risk of thrombosis increases significantly.
Prothrombin time (PT) and activated partial thromboplastin time (aPTT)
These tests measure the efficiency of the extrinsic and intrinsic coagulation pathways. A prolonged PT or aPTT may be indicative of an alteration in one of the factors necessary for normal clotting, which helps to identify deficiencies or dysfunction in the haemostatic system.

Antibody Testing: Antiphospholipid Syndrome (APS)

Antiphospholipid antibodies are proteins mistakenly produced by the immune system that attack normal components of the blood. These antibodies can damage the inner lining of the blood vessels, causing the blood to thicken and make it easier for clots to form.

In women seeking pregnancy or undergoing fertility treatment, this alteration can hinder embryo implantation or cause early miscarriages. For this reason, detecting these antibodies is key to adjusting treatment and protecting the development of the pregnancy from the start.

Who should be tested for thrombophilia study?

The thrombophilia test can be performed at any time, as it does not interfere with a possible pregnancy. However, it is a key female fertility test in patients with:

Repeated miscarriages without apparent cause.
Implantation failure after fertility treatments.
Family history of thrombosis or clotting problems.
Patients on long-term anticoagulant therapy.

This test is performed on a blood sample and tests for genetic mutations, antiphospholipid antibodies and other factors that affect clotting.

Thrombophilia and pregnancy: what to do if the test is altered?

Pregnancies in women with thrombophilia tend to be more complex, with a higher likelihood of bleeding episodes, especially in the first trimester.

For this reason, in some situations, specialists may recommend rest to reduce the risk of gestational loss.

It also requires treatment with anticoagulants or antiplatelet agents or vitamin supplementation.

Treatment for thrombophilia during pregnancy

If thrombophilia is detected, treatment may include:

Anticoagulants (low molecular weight heparin) to improve placental circulation.
Acetylsalicylic acid (aspirin) in low doses to reduce the risk of blood clots.
Specific supplementation according to the type of alteration found: for example, B vitamins in hyperhomocysteinemia.

Following medical indications and adhering strictly to the treatment prescribed by gynaecologists, obstetricians and haematologists can make the difference between facing complications or successfully delivering the baby.

Thrombophilia testing and recurrent miscarriages: how to avoid them

For patients with coagulation disorders, carrying a pregnancy to term represents a medical challenge.

It is essential for the gynaecologist to work closely with a haematologist to effectively manage coagulation disorders and ensure that the baby’s development runs smoothly until delivery.

Research supports the use of anticoagulants or antiplatelet agents, such heparin and aspirin, in women with thrombophilia during pregnancy.

Thrombophilia study: Have you suffered repeated miscarriages and still do not have a clear diagnosis?

Dr. Alejandra García Villalba, medical director of Vida Fertility Alicante, can help you. In our clinic we analyse each case in a personalised way and we carry out thrombophilia studies when necessary.

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Frequently asked questions about the thrombophilia study and recurrent miscarriages

Does thrombophilia cause female infertility?

Dr. Alejandra García-Villalba responds

Yes, infertility is the inability to achieve a full-term pregnancy, so women who have thrombophilias are likely to miscarry and this is a condition for female infertility.

How do I know if I have thrombophilia? Symptoms

Dr. Alejandra García-Villalba responds:

In most cases, thrombophilia has no visible symptoms, it is silent, until it causes a complication. That is why it is so important to detect it in women with implantation failure or recurrent miscarriages, or where there is a family history, even if they are physically well.

However, in some cases, especially if there has already been a thrombotic episode, signs may appear such as:

Swelling in the legs, tension or heaviness
Chest pain when taking deep breaths
Changes in skin colour
Marked superficial veins

If you are trying to get pregnant and have had several unexplained miscarriages, a thrombophilia test may be essential to understand what is going on.