- What Is It?
- Risks
- Precautions
- Treatment Options
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While women can get pregnant with an MTHFR gene mutation, they may have an increased risk of complications during pregnancy, including:
- Preeclampsia, or high blood pressure during pregnancy
- Congenital birth defects:
- Spina bifida, where the spinal cord protrudes from the child’s back, causing nerve damage
- Anencephaly, where the child is born without parts of their brain or skull
- Polycystic ovarian disease (PCOD):
- Women with polycystic ovary syndrome (PCOS) typically have higher homocysteine levels as well as difficulty conceiving and a higher incidence of gestational diabetes
Women with multiple pregnancy losses often test positive for MTHFR gene mutation. However, there is no scientific evidence that MTHFR gene mutations cause recurrent pregnancy loss.
What does the MTHFR gene do?
MTHFR stands for methylenetetrahydrofolate reductase, which is an enzyme that helps the body break down and use folate. It is responsible for converting dietary folate (methylenetetrahydrofolate) to active folate (methylfolate). Methylfolate plays an active role in converting homocysteine (an amino acid that helps maintain cells) to methionine (helps with growth and tissue repair).
When there is an MTHFR gene mutation, it can prevent the conversion of inactive folate to methylfolate. As a result, homocysteine levels build up in the blood, leading to:
- Homocystinuria, a disorder that affects the eyes, joints, and cognitive abilities. It usually starts in early childhood.
- An increased risk of heart disease, stroke, high blood pressure, and blood clots.
How can you know if you are at increased risk of MTHFR gene mutation?
A mutated MTHFR gene can be passed down from your parents. You may also be at increased risk of a positive MTHFR gene mutation if you have had:
- Recurrent pregnancy losses
- An infant with a neural tube defect, such as spina bifida or anencephaly
- A history of preeclampsia
What precautions should you take if you have a MTHFR gene mutation?
If you have a positive MTHFR gene mutation and are planning to become pregnant, you should consume 400 mcg of folic acid the day you start planning for the baby. Consuming 400 mcg of folic acid each day can help prevent neural tube defects even with MTHFR gene mutations.
Your doctor may recommend taking more than 400 mcg a day if you are in the high-risk category.
What are treatment options if you are pregnant with a positive MTHFR genetic mutation?
Treatment options include:
- Lovenox or heparin injections: These injections can help prevent blood clots from forming between the developing placenta and the uterine wall, which is caused by the mutated MTHFR gene.
- Daily aspirin: Doctors may recommend this to prevent blood clot formations, but there isn’t any large-scale scientific evidence supporting its effectiveness.
- Prenatal vitamin with L-methyl folate: Some doctors may prescribe this supplement instead of folic acid. Studies have shown that L-methyl folate reduces the risk of anemia in pregnant women.
SLIDESHOW
16 Early Signs & Symptoms of Pregnancy: Could You Be Pregnant? See SlideshowMedline Plus. MTHFR Gene. https://medlineplus.gov/genetics/gene/mthfr/
Centers for Disease Control and Prevention. MTHFR Gene, Folic Acid, and Preventing Neural Tube Defects. https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html
American Pregnancy Association. Folate and Folic Acid in Pregnancy. https://americanpregnancy.org/getting-pregnant/infertility/folate-vs-folic-acid-68699/
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