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What the MTHFR Gene May Mean During Pregnancy

Folate (vitamin B9) is such an important nutrient during pregnancy that the U.S. Preventive Services Task Force recommends a daily folic acid supplement for anyone who might become pregnant, even those who aren’t trying to have a baby. Folic acid is the artificial version of folate, which naturally occurs in food. The nutrient helps keep brain and spine defects from developing in babies.

There’s a gene in your body called methylenetetrahydrofolate reductase (MTHFR) that helps your body process folate. If you have a change (mutation) in this gene, you might not be able to process folate properly. 

“Until recently, it was thought that the MTHRF gene mutation increased the risk of blood clots in the body, heart disease, pregnancy loss and adverse pregnancy outcomes,” said Amy Snell, a women’s health nurse practitioner with Banner Health. 

“But the most current research has shown no evidence of associations with adverse outcomes or increased mortality. The majority of people that have the MHTFR gene mutation do not develop health problems,” she says. “This is a good example of how the science of medicine is ever-changing.”

Why folate/folic acid is important

Everyone needs folate since it helps make and repair DNA and helps red blood cells form and grow. It’s especially important during pregnancy since it nourishes the baby’s cells to grow and develop properly. 

While MTHFR mutations can make it harder for your body to process folate effectively, in most cases, the effect is small. “Most people with these gene mutations only have a slightly lower absorption of folic acid than the general population,” Snell said. 

How to make sure you get enough folic acid

Supplementing 400 micrograms of folic acid daily is recommended for everyone during pregnancy. “Ideally, this should start three months before pregnancy,” Snell said. This amount of folic acid ensures you have enough to help reduce the risk of brain and spine defects, even if you have the MTHFR mutation.

Most prenatal vitamins, including over-the-counter (OTC) options, include the recommended amount of folic acid. “Make sure to read labels to ensure you are taking the correct amount,” Snell said.

Keep in mind that the U.S. Food and Drug Administration (FDA) doesn’t regulate OTC supplements. You’ll want to check that supplements are third-party tested, so you know that they are safe to use and that they include what it claims it contains. Third-party testing agencies like ConsumerLab.com, NSF or USP can help ensure quality and purity.

You may have heard that you need to take other types of folates if you have the MTHFR mutation. But folic acid is the only type that helps reduce the risk of specific brain and spine defects.

Folate is found in leafy greens, citrus fruits and beans, so including these foods in your diet can also help you get enough of the nutrient.

Should you test for MTHFR?

Experts used to sometimes recommend testing for the MTHFR mutations if you had a personal or family history of blood clots, multiple miscarriages, unexplained infertility or a history of pregnancy complications. But that’s no longer the case. “The most current research and recommendations do not recommend testing for MTHFR,” Snell said.

It’s important to discuss your specific situation with your health care provider. “Have a meaningful conversation regarding any history of the MTHFR mutation and what it means to both your health and your baby’s health,” Snell said. “With any question or potential health issue, it is important to ask and get the information you need, rather than not ask and not know.”

The bottom line

It’s important to get enough folate (vitamin B9) before and during pregnancy. That’s because this nutrient helps reduce the risk of some serious brain and spine defects in babies. 

The MTHFR gene plays a role in how your body processes folate and mutations in the gene can affect your folate levels. Experts used to recommend testing for the genetic mutation in certain people. However, newer research has found that folic acid supplements should provide enough folate even in people with the mutation. So, testing is no longer recommended.

If you have questions about the MTHFR gene or other questions about how to keep yourself and your baby as healthy as possible during pregnancy, reach out to your health care provider or an expert at Banner Health.

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