MTHFR Mutations and Pregnancy

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Okay, let’s be honest, you may have giggled a little when you saw the title of this blog. It’s okay, almost every time I start talking about this gene mutation with my patients, they always seem to associate this gene with a bad word. I wonder, why? So now that we talked about the elephant in the room, let’s dive right in.

What is MTHFR?

As humans, we all have a gene known as 5- methyltetrahydrofolate (MTHFR, for short). This gene is involved in the activation of B12 and folic acid. It helps convert the folic acid we consume through our diet into the active form known as folate. Folate, as we know, is essential in pregnancy and without, it can lead to major concerns including neural tube defects and miscarriages. Unfortunately, just like any gene in our body, we can have mutations in this gene. Mutations in MTHFR increases your risk of miscarriages, preeclampsia , children born with spina bifida and can directly affect egg quality. So, although mutations in MTHFR have been directly associated with these complications, MTHFR mutations are not typically evaluated on initial screening exams with your PCP or OBGYN. Most women will never be evaluated until they struggle with recurrent miscarriages.

Not only can patients with a positive MTHFR mutations experience deficiencies in folate but they can also experience elevation in homocysteine. Homocysteine is an amino acid used to make proteins in our body. Homocysteine should normally be broken down by folate. Unfortunately, individuals with MTHFR mutations often do not have enough folate to break down the homocysteine, which leads to an accumulation of homocysteine. This elevation in homocysteine leads to a condition known as Hyperhomocysteinemia. Hyperhomocysteinemia can also lead to an increase risk of miscarriage, preeclampsia and birth defects.

How can I get tested for MTHFR gene mutations?

I highly recommended talking to your doctor about getting tested for MTHFR mutations. This test is a simple and easy blood test that can be done at any major lab. This test ranges from $50-$100 without insurance, which makes it an affordable and easy test that can help you along your fertility journey. In my private practice, I screen all of my patients for MTHFR mutations during their preconception and fertility visit.

How Common is this Mutations?

Recent surveys have found that 1 in 4 patients will have a mutation in MTHFR. This mutation is hereditary, which means, it can run in families, which is why I highly recommend getting the whole family tested. Make sure they monitor your Vitamin B12, Folic Acid as well as Homocysteine levels to accurately monitor you.

What to do if you have a MTHFR mutation and want to get pregnant

If you are planning on starting a family or have been struggling to conceive and recently found out you have a MTHFR mutation, it is important that you are taking the correct Pre-natals. Pre-natals are basically multivitamins with extra folic acid. However, if you have an MTHFR mutations, extra folic acid will not be enough. You will want to make sure you are using a Pre-natal that contains Methylfolate. Methylfolate is the active form of folate and it bypasses your gene mutation, providing your body with the active folate it needs to support a pregnancy. My favorite Pre-natal is Pre-Natal Pro by Designs for Health as it contains the Methylfolate and MethylB12 both of which are critical for pregnancy.


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Having trouble getting pregnant? At NMD Wellness of Scottsdale, we offer personalized integrative solutions for all your hormone and fertility needs.

Dr. Zen is a licensed naturopathic physician specializing in Women's Hormones and Fertility. Her local private practice is located in Scottsdale, Arizona, however, she works with patients around the world. Her goal is to educate, inspire and empower women to take control of their health naturally. She believes in providing integrative healthcare options that get to the root cause of your unique symptoms. She has been featured as an expert in a variety of publications including Shape, Elite Daily and Forbes.

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