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WTF is MTHFR?


Genetics are what make you, you. They contribute to your overall health, your ability to produce healthy eggs and your partner’s ability to produce healthy sperm and ultimately factor into whether those healthy eggs and sperm actually can come together and make an embryo.


Thanks to advances in medical technology, a simple blood draw can screen for most of the genetic issues that would cause diseases or contribute to infertility. You may be asking yourself why you would need addition genetic testing and why is a such a silly acronym applicable to you? Well, if you’ve started with the basic hormone tests and beyond and still aren’t getting pregnant, it might be time to seek out genetic testing for more information.


Many couples mistakenly believe that if they are overall pretty healthy, they shouldn’t need additional genetic screening. This is unfortunately far from the truth! An individual can be a carrier for a gene (meaning you aren’t affected by that gene all by itself) but when you mix together two of those genes in trying to make an embryo, you get a recipe for altered gene expression = recurrent miscarriage or infertility. In addition to this more blatant example, there are several genetic anomalies that can have a HUGE impact on your fertility and most of us wouldn’t even know it. One of the most common genetic tests we run is for something called MTHFR.


MTHFR (methyl tetrathydrate reductase) is the name of an enzyme that activates folic acid in the body. Interesting name for such a boring enzyme right? You may be thinking: but I need folic acid for a healthy pregnancy! And you would be right. Folic acid is a critically important nutrient that allows your cells to reproduce in a healthy way. But certain variants of MTHFR prevent your body from effectively activating folic acid inside your cells. This means you could have a hard time making healthy eggs or your embryo could have a hard time growing (MTHFR variants can be associated with higher risk of miscarriage). In fact, anyone who has ever had a second trimester miscarriage or has a family history of spina bifida or cleft lip and palate should be tested for an MTHFR anomaly.



The reason we keep using words like “may” and “could” is because having an MTHFR variant isn’t necessarily the only cause of your fertility problems. Lots of women with MTHFR have no problem with infertility. We have also tested people for whom we were SURE they would have an MTHFR mutation and found none. This is also a mutation that tends to affect us more as we age. So while someone may have had a perfectly easy time conceiving in their 20’s, may find themselves unable to conceive in their early 30s. Because an MTHFR mutation can be relatively straightforward to treat (changing and adding additional supplements),


Caveat: yes, MTHFR variability is a much more complicated topic than a short blog post can fully cover, but it’s also not always as complex or critical as I have seen many other sources present. Definitely worth a conversation with your doctor, particularly if you have unexplained infertility or before setting off into the world of IVF.


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Natural Fertility SLC  

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