Maybe you’re struggling to conceive and someone has suggested that you have an MTHFR test?

Or you’ve had a miscarriage and it’s been recommended that you get your MTHFR genes tested?

Or maybe you’re just starting to think about trying to conceive, and you’ve heard something about the MTHFR and want to know more about it.

In this blog, I’m going to give you an overview on the MTHFR: what it is, when you should get it tested, what the results mean and what to do about them…

What is MTHFR?

MTHFR is an acronym that stands for Methylene Tetra Hydro Folate Reductase – which is a very big name for a tiny little gene.

The MTHRF gene plays an important role in the production of the MTHFR enzyme, which effects the way that our body absorbs an important fertility nutrient called folate. 

I’m sure that you’ve heard of folate before… Folate, vitamin B9, or folic acid, as it is also known, is important in the lead up to pregnancy, and during your first trimester to help with cell division to form your baby’s neural tube, which is the first part of your baby’s body that is developed. In case you were wondering, the neural tube is just a fancy word for your baby’s brain and spinal cord. If your body is unable to absorb adequate folate, it can cause problems with the cells dividing properly, which can lead to miscarriage.

As cell division is such an important process for creating your baby, your body needs a lot of folate. That’s why it’s recommended that you eat a folate-rich diet and take additional folic acid supplements when you are trying to conceive. And, just to clarify the terminology for you… it’s called folate when it comes from food, and folic acid when it is a synthetic form either added to food, or found in supplements.

MTHFR testing

The MTHFR enzyme helps your body process the folic acid, by turning it into another compound called L-methylfolate. That’s why if your MTHFR enzyme doesn’t process folic acid properly, you can just bypass this step by taking methylated folic acid supplements instead of standard folic acid supplements. They’re a bit more expensive than standard folic acid supplements, but can be a good option if you’re concerned that your body isn’t processing folic acid properly.

However, only about 10% of people have a MTHFR gene problem, and out of these, most people can still absorb about 60% of regular folate, so it’s really only people with a severe MTHFR problem that need to be concerned. If you don’t need methylated folic acid supplements, you could just be throwing money down the drain, but they won’t hurt you either, so if you want err on the side of caution, that’s fine too. Your second option is to get an MTHFR gene test. These can be ordered by your doctor, fertility specialist, or sometimes even by your pharmacist or dietitian.  They can either be done as a mouth swap or as a blood test, whichever is easier for you. However, current research suggests that these tests aren’t always accurate or helpful, so you might like to think about whether or not this is a good use of your time, money and emotional energy.

Your healthcare professional can interpret the results for you – however I would caution that if the healthcare professional sells methylated folic acid supplements in their practice, their interpretation of the results might be a little biased, so you may like to get a second opinion.

Your third option is to get a folate and homocysteine test when you get your next blood test, as your folate will be low and homocysteine levels high, if you’re not absorbing it properly.

Now, there’s a few key things to note…

Firstly – whether you need methylated folic acid supplements or just standard ones, make sure you are taking the right dose for your individual needs. If you’re overweight, have diabetes, smoke, or take certain medications for convulsions or arthritis, have had gastrointestinal surgery or have a digestive condition such as Coeliac disease or Chron’s disease, you may have higher requirements than standard.

Secondly – folate isn’t the only nutrient that impacts your baby’s neural tube.  Vitamin B6, riboflavin, choline and vitamin B12 are also essential for the development of your baby’s neural tube, so if you’re having problems, you might need to look at your intake and absorption of these as well.

Thirdly – just because you’re taking a methylated folic acid supplement, doesn’t mean that you can skimp on your green vegies which are one of the best dietary sources of folate.

Finally – it’s important to note that research tends to suggest that MTHFR doesn’t impact fertility, pregnancy or miscarriage in most people, so I don’t want you to be concerned about this. But, it could be something to look into if you are having problems conceiving, if you’ve had a previous baby with a neural tube defect, or if you are having re-occurring miscarriages.

Now, I’m guessing that you have loads of questions about this topic, as there’s still so much more I could say… so please post your questions in the chat box below. 

Also, to ensure that you are getting enough dietary folate each day, I’ve created a free fertility meal plan for you. Just go to to download. 


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