My Journey with Genetic Testing for Blood Clotting Issues: Worth It?

Hello everyone!

My Story:

In 2020, my partner and I started trying to get pregnant, and after a year and a half of unsuccessful attempts, we finally saw that second positive line. It wasn't super clear, but it wasn't a faint one either. After retesting a few days later, I still saw the same line, and I thought that was weird. The next day, I got a blood test and got a positive result, but the numbers were way too low. I didn't want to give up, so I decided to check my hCG levels over time. But just a couple of days later, I had a miscarriage, a complete spontaneous abortion.

Physically, everything went smoothly (if you can even call it that) – it felt like I was just getting my period, and it was all over without any interventions. But emotionally, it was really tough.

After one of these 'chemical pregnancies,' they don't send you for any further testing; instead, they tell you to keep trying. With a phrase like 'this happens.' You need to have a few miscarriages before you start figuring out what's going on with your body.

We, of course, got rechecked (ultrasounds, blood work, hormones) – everything was fine. For a while, we just kind of lived in a bubble, I was recovering, we went on a vacation, and we just enjoyed each other's company. Then one day, I saw an ad for a free consultation with a reproductive endocrinologist. We had talked about it, but we had put it off. We decided to go, to hear what they had to offer. The doctor didn't seem too interested in our case, because it wasn't a complex situation, and we hadn't been diagnosed with infertility yet. But he suggested we get a tubal patency test. I went through all the stages – denial, acceptance – and of course, I agreed. I just had to wait for my period and schedule an appointment. And... my period didn't show up, and I turned out to be pregnant!

Part 2:

I was still seeing my reproductive endocrinologist for free during the initial stages of pregnancy, and they sent me for a blood test that showed an elevated Activated Clotting Time (ACT) - a fundamental marker of blood coagulation.

An increased ACT raises the risk of hypotonic maternal bleeding.

It was this specific marker, along with my past medical history, that prompted my reproductive endocrinologist to err on the side of caution and send me to see a hematologist for further testing and analysis.

The genetic polymorphism analysis -

is a comprehensive study of genetic risk factors for developing blood clotting and folate cycle disorders.

I have to admit, this is a pretty complex topic to write about, with a lot of unfamiliar terms and jargon. So, if I'm being super basic, it's essentially a genetic test for mutations that increase the risk of developing pathological conditions, such as infarcts, strokes, bleeding, miscarriages, and other issues.

My analysis checked for:

Genetic polymorphisms associated with a risk of developing thrombophilia:F2 ProthrombinF5F7F13A1FGB-Fibrinogen(PAI-1)ITGA2 (GP Ia) - α-2 IntegrinITGB3 (GP IIIa) - b3-IntegrinGenetic polymorphisms associated with folate cycle disorders:

MTHFR (Methyltetrahydrofolate Reductase)MTRR (Methionine Synthase Reductase)MTR (Vitamin B12-dependent Methionine Synthase)I took this analysis because my doctor wanted to cover all bases. I didn't have any direct indications for the test, but I was eager to get some peace of mind.

Indications for the test:

Family history of blood clotting disorders;History of blood clots during pregnancy or postpartum;Long-term use of oral contraceptives;Other conditions that increase the risk of blood clots and thromboembolism;Identification of polymorphic allelic variants in blood clotting and folate cycle genes among relatives;Pre-eclampsia, placental abruption, chronic placental insufficiency, growth restriction, stillbirth, or recurrent miscarriage in the medical history;Pregnancy with an increased risk of birth defects.I didn't have any direct indications, so my doctor was just being cautious. But I totally get it - if you're expecting a baby, especially after a loss, you'll do whatever it takes to ensure everything is okay.

Cost:

The test cost 4620 rubles in 2021.

Preparation:

No additional preparation is required.

My result:

When I got my test results, I was shocked. Reading the descriptions of each mutation left me even more stunned.

Out of 12 genes tested, 7 were abnormal:

6 were in a heterozygous state1 was in a homozygous stateI'm pretty sure homozygous means the gene is completely broken, and the risk of developing pathological conditions shoots way up.

At the time, I was 11 weeks pregnant, and I decided not to freak myself out and leave it for the hematologist.

The hematologist's verdict:

She took a look at my results and just raised an eyebrow, asking, 'Why did I make me get this done?' But she did make an important appointment.

So, I've got a homozygous mutation in the MTHFR:1298 gene (Methylenetetrahydrofolate Reductase) - C/C

This mutation reduces the activity of the MTHFR enzyme, which is responsible for

converting homocysteine to methionine with the help of cofactors - pyridoxine (Vitamin B6), cyanocobalamin (Vitamin B12) - and a substrate - folic acid.

High levels of homocysteine - hyperhomocysteinemia - have a toxic effect and increase the risk of cardiovascular diseases. For pregnant women, hyperhomocysteinemia can lead to severe complications during pregnancy.

As far as I understand, the broken gene is a problem because it raises homocysteine levels in the blood and/or reduces folic acid, which has a negative impact on the body.

Folic acid deficiency caused by genetic MTHFR defects in pregnant women also increases the risk of neural tube defects in the embryo and some other central nervous system damage.

So, my hematologist prescribed me methylfolate instead of synthetic folic acid because methylfolate is already a biologically active form that my body can use.

And another thing - I need to take methylfolate throughout the entire pregnancy (usually gynecologists recommend taking folic acid only in the first trimester).

I took methylfolate from Solgar throughout my entire pregnancy.

My Verdict:

Let's get straight to the point:

My pregnancy ended successfully with a C-section delivery. There were no complications, but I did experience some other issues: morning sickness, gestational diabetes (diet), and Rh-negative blood (analysis for Rh antibodies) and so on.

Did my methylfolate intake affect my pregnancy? Possibly. In any case, I'm glad I know this nuance about my body. I also can't rule out other mutations, even if they're in a heterozygous state. Maybe I'll dive deeper into this topic someday.

Genetic analysis - Polymorphism of genes in the hemostasis system is a must!

Wishing you all good health and happiness!