Among hundreds and thousands of genes that lay the blueprint of our bodily structures and functions, the MTHFR gene is being studied for its effects on pregnancy. The methylenetetrahydrofolate reductase gene is responsible for producing the MTHFR enzyme, which takes care of the processing of folate in the body. Folate is broken down to form homocysteine, which is further processed to make methionine; an amino acid used for DNA, RNA, and protein formation. (1) There are two types of variants of the MTHFR gene – C677T and A1298C. In Australia, 10-14% of the people have two copies of the gene variant. Studies have shown that having a variant of the MTHFR gene is responsible for many health outcomes including heart disease, high blood pressure, stroke, abnormal blood clot formation, and some adverse pregnancy outcomes. Studies have also found that women with miscarriages or conception failures carried at least one variant of the MTHFR gene. (2)
Elevated homocysteine levels (more than 13 μmol/L) have been seen in people with the MTHFR gene variant. This condition is known as hyperhomocysteinaemia. Research shows that it can be a risk factor for certain unfortunate pregnancy outcomes, such as a miscarriage, preeclampsia (high blood pressure during pregnancy), birth defects, implantation failure, and other fertility issues. Men with the MTHFR gene variant have been found to have low sperm count and sperm quality. Low quality of egg and sperm substantially affect the growth and development of the foetus into a healthy baby. Therefore, getting oneself tested for the MTHFR variant is crucial to ensure timely management of the condition before you get pregnant. Read on to know what you can do to ensure that you prepare the best way for pregnancy, especially if you have the MTHFR gene variation. (3)
Getting tested for MTHFR
MTHFR testing is often not recommended by physicians but if you’ve had multiple miscarriages in the past, have a family history of an MTHFR variant or have abnormally raised homocysteine levels, there is a high chance that you may have one of the MTHFR gene variations. . This test is conducted either via a blood test or a buccal swab (a collection of saliva from the inside of your mouth) e, which is then analysed to check whether you carry the gene variant. If you do have the gene, then it’s vital that you take steps to optimise your folate levels before you consider falling pregnant. Read our information on how to read your results. If you think you might have this gene, you can test in Australia and in the US. (1)
Diet is a key way to start
If you’ve been tested positive for MTHFR, there are certain precautions that you need to take before getting pregnant. One such important factor is your diet. Although folate is important for pregnancy, much of our food is fortified by law with folic acid. You do not want to use folic acid as it has the capacity to build up in your body and inhibit key enzymes that make active folate (5-MTHF). It is essential that you avoid all fortified foods. Here is a list of the key folic acid foods. . Since your folate metabolism is already down regulated, you will need to skip any food items and supplements that may contain folic acid. These include wheat products, such as bread, pasta, crackers, processed food and so on.
Instead of taking folic acid supplementation, it is good to consume active folate – this is known as methyl folate, which is present in abundance in leafy greens. Eating these green, leafy vegetables is a better source of methyl folate than heating or cooking them. It’s important to note here that eating a folate-rich diet is important for both you and your partner before conception to improve the quality of the sperm and eggs produced, and very crucial for you during pregnancy to prevent developmental defects in your baby.
Methyl folate supplements
Besides fulfilling the dietary folate, for optimal growth of your baby, you will need folate supplements. The dosage of folate will depend on whether you carry one copy or both copies of the MTHFR variant. Our recommendation is that you take anywhere between 2 mg (2000 mcg) methyl folate per day during pregnancy when you have a single copy of the variant and up to 5,000mcg if you carry two copies of the polymorphic MTHFR. Our preconception course will guide you through the correct dose for you as everyone is different. Methylfolate supplements fulfil the daily needs of folate for both the mother’s bodily functions and the growth and development of the baby. It serves as a methyl donor for healthy DNA and RNA production and the regulation of homocysteine metabolism. It is important that you do not self-medicate and consult your physician or take our course before taking any folate or other supplements to support a safe pregnancy to minimise the risk of miscarriage and support the health of your baby.
Blood thinning medication
Those people with the homozygous C677T polymorphisms (variants) may have elevated homocysteine levels. In the research, high homocysteine levels are seen as a risk factor in pregnancy due to which the blood vessel walls may get damaged resulting in the development of blood clots. These blood clots can disrupt the supply of nutrients and oxygen to the growing foetus, which can further result in a miscarriage. Studies have shown that women who are prescribed low molecular weight heparin, such as low-dose aspirin, could successfully complete full-term pregnancy without any complications. Remember that these medications are to be taken as prescribed and under the supervision of your physician. (4), (5)
Checking whether you have the MTHFR gene variants is a crucial first step in preparing for pregnancy. Testing is easy and those diagnosed with unexplained infertility or those who have experienced a miscarriage have a high percentage of carrying the MTHFR gene variant. Once you know this, it changes everything because optimising folate levels (the right form and dose) significantly improves your chances of falling pregnant and reduces the risk of miscarriage. Preparation is key to a successful pregnancy. Your 12-week preconception programme is absolutely essential for both you and your partner. If you want to know more about MTHFR, you can visit our website or search here.
If you think you may have the MTHFR gene, take our quick Quiz here to find out.
- MTHFR Mutation Test. Medline Plus, US National Library of Medicine. Viewed 2021.
- MTHFR Gene Variant. Genetic and Rare Diseases Information Centre. Viewed 2021.
- Moll S, et al. Homocysteine and MTHFR Mutations. Circulation. 2015 Jul 7;132(1):e6-9.
- Greenberg JA, et al. Multivitamin Supplementation During Pregnancy: Emphasis on Folic Acid and l-Methylfolate. Rev Obstet Gynecol. 2011;4(3-4):126-127.
- Altomare I, et al. The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of fetal loss: a case series and review of the literature. Thromb J. 2007;5:17.