Epigenetics: it’s more than a buzzword. When you’re thinking about fertility, you need to know about it.

It’s the way you can influence your genes.

It’s the element of control you have over whether you inherit your mum’s endometriosis or your dad’s bipolar disorder.

And when you are planning for a baby, the idea of being able to influence the genes for the health of your baby takes on a whole new significance.

Conventional preconception care is pretty basic at best. Sexually transmitted infections and general blood screens are sometimes the limit, maybe with minimal thyroid function screen and iron studies. You are told to take a preconception supplement containing folic acid, and to just let nature take its course.

But what if you have the MTHFR gene polymorphism?

(The what?)

In a nutshell, MTHFR is an enzyme used in a process in your body called methylation, and is critical for folate metabolism. As with other genes, you can have one or more copies of a mutation. In this situation, a mutation or polymorphism results in diminished activity of this important enzyme. The end result is an increased risk of just about any disease you care to name (but more accurately, cardiovascular disease, cancers, neurological diseases, diabetes, autoimmune disease and CIN – or a bad result on a Pap Smear, and a precursor to cervical cancer). Elevated homocysteine in the blood (or homocysteine at the upper end of the range) can be a marker for this.

Specifically relevant to conception is the issue that the MTHFR polymorphism increases risk for:

  • Male infertility
  • Recurrent miscarriage
  • Hypertension in pregnancy
  • Pre-eclampsia
  • Pre-term labour
  • Health issues in the infant, such as neural tube defects (e.g. spina bifida) or Down syndrome

But there are two pieces of good news:

Finding out your MTHFR status is easy, and cheap (if you live in Australia, at least).

I frequently send patients for this test as a cheek swab (what a bonus, no blood test needed!) and is around $50. A small price to pay for a critical piece of information about your own and your future baby’s health.

Even better, there’s something you can do about your risks if you do have the polymorphism.

It involves judicious supplementation with certain B-vitamins to offset your risk.

And what about the recommendation to take folic acid supplements from 4 weeks before a pregnancy? A 2014 study pointed out this is not long enough to normalise homocysteine, optimise red blood cell folate and reduce risk in the majority of women, and that only 20% of women are doing this. It is critical to get good folate intake in the diet.

So there’s no way out of it girls – eat your greens! And see my blog post for a delicious way of getting folate in your diet.

So why not just take megadoses or folic acid, like those available over the counter at the pharmacy?

As in many cases, something that sounds like a bad idea IS a bad idea! Taking too much folic acid can mask a vitamin B12 deficiency, which is very bad news for a pregnancy. Folic acid is also not the optimal form of folate for use by the body. Folic acid is a synthetic form, which must be metabolised to tetrahydrofolate by the body in order to be of use. And you guessed it, there are multiple factors that influence this – so taking folic acid is by no means a complete solution.

Ideally, all women should ascertain their MTHFR gene status before falling pregnant and work with their functional medicine practitioner or integrative doctor to support their health.

Genetics can be slightly scary or overwhelming – but hooray for epigenetics, which means we can do something about it!

Do you know your MTHFR status?


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