What Testing Can be Done for RPL?

Doctors have many different opinions on what types of testing are necessary for RPL. This post is for those who are unsure if they are being "cheated" by their RE or Ob/Gyn and not getting the care that they deserve. I've been there and want to make you aware of what is available. I am NOT a doctor and I am not a know it all. I do this in my free time, reading & researching RPL. Researching the possibilities of why I lost my 4 angels. If no one else is going to give me answers I have to research to hold on to my hope, faith and sanity. This is what I have found and there very well could be more out there. If something is incorrect please leave me a message. If you are looking for more about a particular diagnosis leave me a message and I'll be glad to try and help you.

Let's start with thrombophilia for this post. Approximately 40% of those who have thrombophilia have inherited it. Thrombophilia means a person is prone to develop blood clots due to defect in the process of coagulation. Some interesting facts about thrombophilia related to RPL:

"Inherited thrombophilias have been associated with early and late recurrent pregnancy loss as a result of uteroplacental microvascular thrombosis and hypoperfusion. Obstetrical complications such as intrauterine growth retardation, placental abruption as well as preeclampsia have also been related to abnormal placental vasculature. Genetic thrombophilia are suspected to account for about 30% of these obstetrical complications. Poor pregnancy outcomes are associated with maternal thrombophilia but may also be associated with fetal thrombophilia by inheritance of maternal and paternal thrombophilic genes."

~ Found on the Millenova Lab website

Thrombophilia labs include Antithrombin III, Protein C & S activity, MTHFR, Homocysteine, Factor II and Factor V Leiden.

So what are these tests and what are the tests testing for?

Antithrombin III test is to determine how the amount of AT III in the blood, a protein that assists in blood clotting. When you have an AT III deficiency often times these things may appear:
1) Increased risk of venous thrombosis and pulmonary embolism. Venous thrombosis occurs most frequently in the deep veins of the lower extremities.
2) Thrombotic events begin in mid-late teenage years.
3) Mesenteric veins, inferior vena cava, renal veins are all susceptible.
4) Cerebral vein thrombosis can occur.
5) Events occur with AT activity at 40-60% of normal. Homozygosity is fatal in utero.
6) May be precipitated by provocations such as surgery, trauma, pregnancy, oral contraceptive (OCP) use, or infection.

Protein C & S activity is another blood test that examines the function (activity) or quantity (antigen) of both proteins. The lack of one or the other protein or possibly both (highly unlikely) indicates that you do not produce this substance to help prevent blood clots.

- 1 out of every 300 people has one normal gene and one faulty gene for protein C deficiency.

- Protein S deficiency is less likely and only occurs in about 1 in 20,000 people.

- 20-40% of women who have had two or more consecutive m/c have an incidence of Protein C deficiency.

Next, MTHFR. The full name Methylenetetrahydrofolate reductase. From my understanding a blood test helps to identify a mutated gene. This can be heterozygous (inherited by one parent) or homozygous (inherited by both parents). A defective MTHFR gene cannot process folic acid and B12 properly. As we all know folic acid is very important for a developing fetus.

- The incidence of a heterozygous MTHFR condition in women with RPL is about 25-30%.

- Where as the homozygous MTHFR condition is found in 14% of women with RPL.

- MTHFR is the most common abnormality in women with thrombophilia.

High homocysteine levels are usually found in those who are carriers of a MTHFR mutation. Not all the time is there a connection. People who are deficient in folic acid, B6 & B12 may have high homocysteine levels as well.

Factor II deficiency is is present when there is a lack of Prothrombin in the blood, this creates a blood clotting/coagulation problem. Both parents must be carriers of Factor II to pass it along to their children. Factor II deficiency is most commonly caused by lack of Vitamin K. Some babies are born with a Vitamin K deficiency which explains why a Vitamin K shot is given shortly after birth.

- 8% of women who experience fetal loss have this mutation.

People with Factor V Leiden not only have a higher chance of developing blood clots but have a high chance of the blood clot breaking away from the original site. Some history about Factor V Leiden, it was named after a Dutch professor who discovered it in 1994. I find that interesting since I'm half Dutch. ;-)

"The factor V Leiden mutation is associated with a slightly increased risk of pregnancy loss (miscarriage). Women with this mutation are two to three times more likely to have multiple (recurrent) miscarriages or a pregnancy loss during the second or third trimester. Some research suggests that the factor V Leiden mutation may also increase the risk of other complications during pregnancy, including pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). However, the association between the factor V Leiden mutation and these complications has not been confirmed. Most women with factor V Leiden thrombophilia have normal pregnancies."

- Between 3% and 10% of Caucasian people are heterozygous for Factor V Leiden, and a much smaller percentage are homozygous.

- In Sweden the rate of heterozygous mutation may be as high as 15%.

- Approximately 1 in 100 women who have FVL will have a serious deep vein thrombosis (DVT) during pregnancy.

While researching Factor V Leiden, I came across an informative website for those who have been diagnosed with Factor V Leiden. I also came across this article, "Pregnancy, Clotting, and Factor V Leiden: An Overview"

Stay tuned! More info to follow on immune and hormonal blood tests.