MTHFR Fertility

How can I find out if I have MTHFR?

If you’ve found your way here, you’re likely seeking answers as to why you may be experiencing miscarriage or unexplained infertility, despite all the usual tests saying that ‘there’s nothing wrong’.

More than a decade of clinical experience tells us that MTHFR genes and the resultant problems with methylation can affect up to half of all couples trying to conceive. With a few simple tests, some tweaks to supplementation and diet and lifestyle habits, we see a profound difference in the fertility outcomes of couples.

If you’re not familiar with MTHFR, you can learn more about what this is, and what it can mean at the useful blogs below:

How does MTHFR affect your fertility?


How Does MTHFR Affect Fertility?

5 Main Symptoms That You May Suspect You Have The MTHFR Gene Variation and Potential Problems in Pregnancy


5 Symptoms of MTHFR and Pregnancy Problems

How do you know if you have a methylation problem?

Methylation is the process where little ‘methyl groups’ bind to things like amino acids, proteins and the like to biologically ‘turn off’, or activate them. Think of them as ‘on off’ switches.

The most important methylation process for anyone trying to fall pregnant is methylation of your DNA. This ensures that your DNA is healthy enough to support a growing foetus. Both sperm and eggs need methylation so it is equally important for both males and females.

So how do you ‘methylate’ your DNA?

Well, it starts with folate. You’ve probably heard how important folate is for preconception and this is why. Folate, specifically your biologically active folate (methylfolate), is what gives you the ‘methyl’ to methylate your DNA.

That means the key goal is to make methyl folate….. The gene that controls your folate is the MTHFR gene. This stands for methylenetetraydrofolate reductase. Essentially, this is a long word for an enzyme that turns folate into methyl folate. If you have two copies of this gene that are ‘mutated’ (different from what we expect in the normal gene), then your ability to make methyl folate may be down regulated by as much as 75%. This can put you at an increased risk of miscarriage, failed IVF and/or being diagnosed with ‘unexplained infertility’.

The signs of problems with methylation depend on your unique biochemistry and life circumstances. What you eat, where you live, where you work, what you’re exposed to as well as lifestyle habits like drinking, smoking, exercising and stress – can all influence methylation. Because of this, the potential list of symptoms one may experience is quite vast and different from person to person. Some common signs and symptoms which can indicate a deficiency in methylation may be a family history of the following:

  • Infertility or pregnancy-related complications
    Methylation helps in promoting foetal growth and maintaining a healthy pregnancy. Multiple miscarriages are a big red flag that there is a problem with methylation.
  • Hormonal imbalances
    Methylation plays an essential role in detoxifying and metabolising estrogen. Hence, it can lead to PCOS (polycystic ovarian syndrome), PMS (premenstrual syndrome), fibroids and endometriosis etc.
  • Mental health disorders
    Methylation is responsible for many mood modulating neurotransmitters such as adrenaline, dopamine, serotonin and noradrenaline. If there is a disturbance in any of the neurotransmitter levels then it can have a negative impact on our mood and mental health leading to anxiety, depression, obsessive compulsive disorder, schizophrenia and much more.
  • Cardiovascular disorders
    Methylation helps in the regulation of levels of homocysteine. If there is an increase in the level of homocysteine then it can result in inflammation and free radical damage. Increased homocysteine is a risk factor for many pregnancy related disorders like pre-eclampsia.
  • Autoimmune disorders
    Methylation is very crucial for the regulation and repair of the immune system.
  • Histamine intolerance
    Allergies are caused due to enhanced production of histamine and result in various symptoms such as itching, sneezing, watery eyes and running nose. This excess histamine is controlled by the methylation process.
  • Memory problems
    Homocysteine can damage our neurons and result in inflammation. To prevent any memory problem, our body needs to produce more melatonin and serotonin which happens through methylation. The key nutrient for our brain is phosphatidylcholine and this can only be produced via methylation.
  • Chronic fatigue
    Methylation helps in the production of energy and maintains the functioning and the health of various organs such as thyroid gland, adrenal gland and also enhances the nervous system.
  • Inflammatory conditions
    Continuous inflammation can affect your body and availability of methylated molecules in the body.
  • Digestive problems
    If methylation is being impacted, the body becomes a poor manufacturer of phosphatidylcholine – which is an important component of bile. Poor bile production can result in digestive problems as bile has antimicrobial properties and prevents the overgrowth of bacteria. It also helps in increased absorption of fat and other nutrients as well as playing a vital role in the detoxification of certain substances.

Often we see methylation being categorised into two types of presentations; not enough or too much that can’t be used (underutilisation – also sometimes referred to as over methylation)


  • Fatigue
  • Insomnia
  • Depression
  • Addictions
  • Obsessive-compulsive disorders
  • Seasonal allergies
  • Delusions
  • Low threshold for pain
  • Digestive issues
  • Frequent headaches
  • High libido
  • Self-motivation
  • Strong will
  • Perfectionism


  • High anxiety and hyperactivity
  • Rapid speech
  • Low libido
  • Dry eyes and mouth
  • Low motivation
  • Self-mutilation
  • Paranoia and paranoid schizophrenia depression
  • Sleep disorders
  • High threshold to pain
  • Eczema
  • No seasonal allergies
  • Artistic or musical ability
  • Obsession without compulsion
  • Pacing and nervous legs

In the case of undermethylation, several precursor nutrients like copper, folate, zinc, magnesium, choline and vitamin B may need to be assessed and certainly should be checked regularly in blood work and be a focus in your diet. Various food items which help in enhancing the methylation process are fresh vegetables, full-fat yoghurt, grass-fed beef, wild salmon and eggs. While processed foods, vegetable oils, soy and gluten should be avoided. (7)

The term “over methylation” can be a little misleading, but it is colloquially how many health professionals have represented methylation. What may be more accurate is actually under utilisation. Meaning that the body will create methyls, but because of a variety of reasons they may not be getting used effectively, thus leading to excesses. Poor gut health, mould exposure, infections, viruses, low vitamin B12 and low detoxification capacity are just some examples of why this may occur.

The secret here is to find out WHY methylation is blocked, clear the reason and improve the way the person uses their folate. Sometimes we even try to slow down the production of methyls to take the pressure off initially.

Getting tested for MTHFR.

The most definitive way to determine if you have genes that are impacting your methylation is to test for them. There are a few ways to go about this.

Firstly, you can test the most common genetic SNP that impacts methylation at the top of the chain – that is, MTHFR. This test is a simple buccal swab – which is simply obtaining a test kit with an oversized cotton tip and rubbing it around on the inside of your cheek to collect a sample of your saliva and cells, and sending it away for analysis. These tests are the lowest cost method to getting answers.

Test for MTHFR in Australia

Test for MTHFR in the USA and Canada

If you would like to obtain a more comprehensive look at your genes, with a ‘bigger picture’ approach, you might want to get all your genes checked using Stratgene or

The MTHFR Support clinical team can assist you with navigating testing, or test analysis, you can book an appointment with one of our genomic fertility specialists here:

Ready to get started right away?

If you want to get started today, you can. Remember, ideally, you will pre-prepare your body with a minimum 4 month preconception care plan. So get started today by enroling in the ONLY MTHFR preconception and fertility course in the world.

1. If you’re ready to get started and have support right away, enrol now in our YOUR BABY Preconception Course.

This 8 week, self-paced course is supported by monthly check-ins from our fertility specialists and a self-paced program of educational webinars to help you navigate testing, diet, lifestyle and other aspects that might be impacting your fertility success. This course also gives you the opportunity to connect with other couples in the YOUR BABY program to share your journey with a community of couples who understand the highs and lows of miscarraige and unexplained infertility.

2. Book an appointment with a fertility specialist at the MTHFR Support clinic and get one-on-one guided, personalised support.

(Please note: There can be a 2-3 month waiting list to obtain a new patient appointment so you will get immediate assistance from the course and you can book an appointment at any time down the track if you need support).

Carolyn and the
MTHFR Support Fertility Team


MTHFR, Methylation and Histamine in Psychiatric Conditions. Psychology Today.
Kandi V, et al. Effect of DNA Methylation in Various Diseases and the Probable Protective Role of Nutrition: A Mini-Review. Cureus 2015 Aug; 7(8): e309.

What is Methylation? MTHFR Support Australia 2017.

Ganguly P, et al. Role of homocysteine in the development of cardiovascular disease. Nutr J 2015 Jan; 14: 6.

Hague WM. Homocysteine and pregnancy. Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):459–69.

Miller A. What is Methylation and Why Should You Care About it. Thorne. 2018 Sep 3

Carnahan, J. Is Undermethylation Keeping You Down? What You Can Do. Flatiron Functional Medicine 2018 Jul 5.

10 Signs You Need Methylation Support. BioCare. 2018