Towards a Healthy Baby – MTHFR & choosing the right Folate for your type.

You may have heard of the gene MTHFR. It stands for methyl tetrahydrofolate Reductaseand it’s pretty popular right now. Essentially it’s responsible for making the folate or folic acid we take through food or supplements into an active form the body can use, and around 2 in every 5 people have a variant of this gene that reduces the work it can do.

With the most common variant, 40-60% of the folate you eat will not be activated, which is actually a big deal when you’re trying to make a baby! Folate is crucial in every stage from preconception to birth because it is needed to turn other genes on and off. Regulating the genome during egg and sperm formation, implantation, and foetal development is vital. It takes a lot of folate to make a baby.

MTHFR variants have been associated with:

· Ovulation (or lack of)

· Chromosomal problems like Down’s Syndrome

· Neural tube defects

· Pre-eclampsia

· Congenital heart defects

· Low birth weight

· Autism


· Allergies …………

[perfectpullquote align="full" bordertop="false" cite="" link="" color="" class="" size=""]More importantly, for some people, taking standard Folic acid during pregnancy, as is usually recommended may make a difficult situation worse.[/perfectpullquote]

Folic acid is a synthetic form of the natural folates you would eat and it’s used because it’s more stable and fairly cheap to produce. But it’s not in an ‘active’ form that the body can use, and for some parents-to-be, it can actually slow down folate metabolism, which is not what you want if you already have a slow running gene. The active form of folate, 5-MTHF, however, has been found to be safely tolerated and effective, and it’s already in a form your body can use – no other conversion required.

So what can you do to make sure bub-to-be has the best start?

1. Start early – research on neural tube defects and folic acid has shown that the best results come from preparation. Optimising gene function 3-6 months before conception is ideal if possible, but even if you’re already pregnant, it’s not too late to be eating folate –rich foods like dark green leafy vegetables and chick peas.

2. Get checked – while you can get an MTHFR single gene test done for around $50-$80, I would recommend a good look at the many genes involved in folate metabolism pathways, which can be done by a simple spit test (no needles!) at the clinic. Results are available 4-6 weeks later, and we can then design a program that is tailor made for your body to be at it’s best.

3. Get your partner checked – yes, it takes two to tango and you both donate half your genetic code to bub. So men, it’s just as important to optimise sperm quality and gene function for you as it is for women.

4. If you’re found to have an MTHFR variant - then you’re in good hands. The Family Wellness Clinic has worked with many people looking to optimise their genes. In fact we were finalists in the Bioceutical’s Innovation in Nutrition Awards for the work we do! After meeting with the genetic counsellor, Elvira, who will explain the whole report in plain English (yes, it is possible), you’ll then meet with our nutritionist Linda, who can look at your diet, supplements and recommend folate that is the right type for your body, based on your individual genetic makeup.

So if you’re planning your family book in to talk to us about how we can support and nourish you and your bub-to-be, right down to your DNA.

Elvira Zilliacus is a Genetic Counsellor and you can make contact via our email


Folate & Fertility

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