MTHFR Mutations may Result in Miscarriages. Learn how you can prevent it

Pregnancy loss or a miscarriage is very challenging for anyone who experiences it. Unfortunately, every 1 in 3 pregnancies ends in a miscarriage. Most of the time you wonder what could have possibly lead an apparently normal pregnancy to a miscarriage.  The reasons for it are many and varied, much of the time, however, there are no reasons found. Research shows that genetic disorders, more specifically the MTHFR polymorphism in one or both the parents, are among the most common risk factors for miscarriages. Presence of the MTHFR gene variant may disrupt a cascade of normal biochemical processes, which play an important role in sustaining a pregnancy. This is because the MTHFR gene is so crucial in you being able to make active folate. Hence, it is crucial to take the necessary steps beforehand to prevent any potential complications. Read on to know how you can work towards a successful pregnancy if you’re carrying the MTHFR variant.  

What is MTHFR? What does it do?

MTHFR is an abbreviation for methylenetetrahydrofolate reductase, a gene which regulates the 5-MTHFR enzyme. This enzyme is responsible for creating active folate, called methyl folate and converting homocysteine (an amino acid) to methionine (an essential amino acid) in the body. Methionine mediates some of the vital cellular activities, such as DNA and RNA production and protein formation. Regular production of DNA, RNA and protein lays the foundation of healthy tissue growth, cell rejuvenation, blood cell and haemoglobin production, good quality egg and sperm production, healthy uterine and foetal tissue growth, and so on. This tells us how important the MTHFR gene is for the normal functioning of the body. (1)


How is MTHFR related to miscarriage?  

MTHFR regulates homocysteine levels in the body and helps you make active folate. If you carry its variant, the whole transmethylation cascade through which methionine provides methyl groups for folate formation gets disturbed. In people who carry one copy of the variant C677T, the MTHFR enzyme activity is reduced to 35% of that in normal people and to 70% in those who have both the copies of the gene variant (one from each parent). According to research, in people carrying both copies of the variant the risk of miscarriage is 3.3 times higher as compared to their apparently normal counterparts. Studies also showed that on average, women carrying the C677T MTHFR gene variant reported having had nearly four miscarriages throughout their lives. (2)

The production of the MTHFR enzyme is reduced, which results in a rise in homocysteine levels and a fall in folate levels. A list of events can occur due to high homocysteine levels, such as:

  •     Damage to placental blood vessels
  •     Growth of low-quality uterine tissue, which has a very low potential to sustain pregnancy
  •     Blood clot formation in the placenta
  •     High risk of mental health disturbances, such as anxiety and depression.

Further, low folate levels increase the risk of:

  •     Genetic and developmental defects in the foetus.
  •     Abnormal placental growth

Because of the factors mentioned above, there is a higher chance of disruption or complete blockage of foetal nutrition due to placental abruption (detachment) leading to a miscarriage or stillbirth. (3,4)

I am carrying the MTHFR gene variant. How can I prevent a miscarriage?

Conception and the whole pregnancy period can be overwhelming, especially when you continue to have miscarriages.  But by following this 4Ts rule[1] – testing, treatment, taking care and telling the others, you and other women like you can enjoy motherhood even with an MTHFR polymorphism.  Let’s discuss these 4Ts in detail.


The MTHFR test is recommended to anyone who is considering getting pregnant. Homocysteine testing is another important test that can be done to identify potential MTHFR polymorphisms.  The MTHFR test is done to identify the most commonly occurring variants of this gene – C677T and A1289C and whether you carry one or both of its copies. It is usually performed by taking your blood sample or a swab from the inside of your mouth (buccal swab). You can read more about how to interpret your MTHFR test result here. (5)

Get your test now (Link to our US and Australian tests)



You must be wondering if a genetic disorder could be treated. Well, the answer is no. But the good news is that the effect of the gene can be overridden by taking the correct form and correct dose of folate.. The dosage varies from person to person, so we recommend you go to our FREE 10 day fertility course to find out more..  Methyl folate supplementation complements dietary folate and helps both partners produce healthy and quality eggs and sperm. It also reduces the risk of miscarriage and developmental defects in the baby. (6)


Blood thinners prevent the formation of blood clots in the mother’s body as well as in the placenta. Your doctor may recommend low molecular weight (LMW) aspirin or baby aspirin and heparin for the same. Research shows that women with MTHFR polymorphism who receive methyl folate supplementation with LMW aspirin and heparin were able to complete full-term pregnancy without complications. (7)

Taking care

Needless to say, pregnancy is all about taking good care of your physical and mental health. The key is to have your diet planned out and manage your lifestyle. Since your body may bedeficient in folate, eat more food items that are rich in methyl folate, such as raw leafy greens. Check out our list of folate-rich food items that you can have to lower the effects of an MTHFR polymorphism. Research suggests that physical activity, stress management and not smoking  are associated with lower homocysteine levels. The ultimate guide to preparing for pregnancy if you have the MTHFR gene is here. (8)


 Telling the others

Lets spread the word! If you come across couples who have been trying to conceive, have had multiple miscarriages and no conclusive diagnosis of the problem, suggest they test for the  MTHFR variants and encourage them to seek support.  You can test here. 


Thinking about or experiencing a miscarriage is daunting for every couple. The emotional struggle is huge and couples are usually left in the dark as to what went wrong. Being a little careful of the warning signs, such as feeling tired and exhausted, having anxiety for a long time, a family history of similar pregnancy outcome patterns due to MTHFR and a past experience of miscarriage(s), can prevent this from happening in your future pregnancy. Keep the 4Ts in mind and find out more about the effects of MTHFR on infertility. 







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