May 17, 2019

Have you heard of MTHFR? As an expecting mother, or someone considering pregnancy, knowing your MTHFR status important for both you and your baby.

What is MTHFR?

Methylenetetrahydrofolate reductase (MTHFR) is a gene that helps your body break down a substance called homocysteine. Homocysteine is an amino acid that your body uses to make proteins. Usually, folic acid and other B vitamins break down homocysteine and convert it into other substances your body needs. If your body has adequate levels of folic acid and other B vitamins, there should be very little homocysteine in your bloodstream.¹

For people with an MTHFR genetic mutation, the folic acid may not be processed properly, hindering its ability to break down homocysteine. Because folic acid is a critical vitamin in preconception and early pregnancy, many women thinking about pregnancy should know their MTHFR status.

The recommended folic acid intake is 400 micrograms (mcg) daily, in addition to consuming food with folate from a varied diet.² Knowing the recommended intake and meeting this goal is important when it comes to knowing your MTHFR status. For women that are affected by the MTHFR mutation, they may be taking 400 mcg per day but if they may not be absorbing the appropriate amount needed to support a healthy pregnancy. It is important to discuss this with your doctor.

MTHFR Testing

The purpose of the MTHFR test is to diagnose or confirm the presence of an MTHFR mutation. The test will let you know if you have one of two MTHFR mutations: C677T and A1298C.² The may also be used as a risk assessment. The test must be ordered by a medical professional, such as a genetic counselor, health care provider, licensed physician, nurse practitioner or physician assistant.³

Who Needs Testing?

You may need to receive the MTHFR mutation test if:

• You had a blood test that showed elevated levels of homocysteine
• A close relative was diagnosed with an MTHFR mutation
• You and/or a close relative have a history of premature heart disease or blood vessel disorders

Your newborn may also get an MTHFR test as part of their routine health screening, which involves a simple blood test that checks for a variety of serious diseases.²

How the Test is Performed

The test for MTHFR mutations is relatively simple. The test is performed by collecting specimens of isolated DNA and peripheral (whole) blood.³

Your healthcare professional will take a blood sample from a vein in your arm, using a small needle. Once the needle is inserted, a small amount of blood will be collected in a vial. Most patients will only feel a minor sting when the needle is inserted or removed. The entire process usually takes five minutes or less.¹

For a newborn screening, a healthcare professional will clean your baby’s heel with alcohol and poke the heel with a small needle, collect a few drops of blood and then apply a bandage.¹ Typically, this test is performed when the baby is one or two days old and is done in the hospital where he or she was born. If your baby was not born in a hospital, or if you have left the hospital before testing could be performed, consult your healthcare provider about scheduling a test as soon as possible.

How to Prepare for the Test

In most cases, the patient will be required to provide documented informed consent as well as receive genetic counseling before and after the test. There are no other special preparations required for an MTHFR mutation test.^1-2

Associated Risks

There are very few risks to you or your baby with MTHFR testing. You may experience slight pain or bruising at the site. Your baby may feel a pinch when their heel is poked, and a small bruise may form at the site. These symptoms should go away quickly.¹

Getting the Results of the Test

The results of the test will show whether the patient is positive or negative for an MTHFR mutation. If your results are positive, the test will show which of the two mutations you have and whether you have one or two copies of the mutated gene.

If your results are negative, but you have high homocysteine levels, your health care provider may order additional testing to determine the cause.¹

Whatever the reason for high homocysteine levels, your healthcare provider may recommend taking folic acid or other vitamin supplements and/or changing your diet. Vitamin B and folic acid can help regulate homocysteine levels.¹

Why Testing is Important

Knowing your MTHFR status and taking the appropriate steps to manage it can help prevent serious birth defects to your baby.

Neural tube defects (NTDs) are the second most common type of birth defect in the U.S. after congenital heart defects. Women with elevated homocysteine levels, low folate or low vitamin B12 are at a greater risk of having a child with an NTD.⁴

Prenate® for Women with an MTHFR Mutation

Taking folic acid supplements during pregnancy may help reduce the risk of NTD birth defects, therefore most pregnant women are encouraged to take folic acid, whether or not they have an MTHFR mutation.¹

The Prenate^® Vitamin Family line of vitamins includes a form of folate that can be processed by women with the MTHFR mutation. L-methylfolate and other so-called reduced folates are highly absorbable and bioavailable, meaning they can be used and absorbed more directly by the body, even for women who are affected by the mutation that affects folic acid metabolism.⁵
This form of reduced folate is used in all Prenate^® products, including Prenate Pixie^®, Prenate Mini^®, Prenate^® Enhance and more.

Talk to Your Doctor

Be sure to consult with your doctor or genetic counselor to learn more about MTHFR mutation testing, especially if you are pregnant or planning to become pregnant.