MTHFR Mutations and Pregnancy: What You Need to Know | Methyl-Life®

MTHFR Mutations and Pregnancy: What You Need to Know | Methyl-Life®

Jamie Hope - Founder of Methyl-Life

Written By:

Jamie Hope - Founder of Methyl-Life
Dr. Nare Simonyan - PhD Pharmaceutical Science

Medical Reviewer:

Dr. Nare Simonyan - PhD Pharmaceutical Science

Updated On:

March 27, 2025

Table of Contents

    How the MTHFR Mutation Affects Pregnancy

    Women with an MTHFR gene mutation may be at a higher risk for miscarriage, preeclampsia, and having a baby with birth defects. Risk factors for MTHFR gene mutations include recurrent pregnancy losses, giving birth to babies with certain birth defects, and a history of preeclampsia.


    When planning a pregnancy, many parents learn about the importance of folic acid. Having a sufficient amount of it in your system is vital for the proper development of the baby. This is because folate is foundational to the RNA/DNA building blocks and synthesis process among so many other important activities in the body.


    The MTHFR (L-5-methyltetrahydrofolate) gene is responsible for processing folic acid to create a usable form of folate for the body. When a person has an MTHFR gene mutation, the body isn't converting folate into the precise enzyme that’s required to kick off all of the important downstream reactions folate requires. While folate deficiency is dangerous for every person, it's a big concern for pregnant women due to possible birth defects associated with it.


    This article will talk about the way MTHFR mutations affect pregnancy and what can be done to counter their negative effects.

    The MTHFR Gene and Pregnancy

    Each person has two copies of each MTHFR gene SNP (single nucleotide polymorphism) — they get one from each parent. Gene mutations can affect one (heterozygous) or both copies (homozygous). Health issues are more likely to occur when both genes are affected. This happens in 10% to 15% of people1.


    The two common variants of MTHFR SNP mutations are C677T and A1298C. These mutations can cause a folate deficiency via poor conversion from folate to its active enzyme form, L-methylfolate (or chemically (6S)-5-methyltetrahydrofolate). This in turn could lead to issues with pregnancy and birth defects. The possible problems related to MTHFR mutation during pregnancy include:

    ● Spina bifida — a neural tube defect that occurs during the baby's development prior to birth. A baby with such a defect has a variety of health issues, including weak leg muscles, deformed feet, scoliosis, seizures, bowel problems, and more.

    ● Anencephaly — another neural tube defect that affects the brain rather than the spine. It could cause the baby to be born without a part of the brain. In the United States, 1 in 4,600 babies2 is born with this defect.

    ● Preeclampsia — low levels of folate caused by the MTHFR mutation have been linked to high homocysteine levels3 in the blood, which leads to increased risk of pre-eclampsia. This complication is characterized by high blood pressure and damage to internal organs like the liver and kidneys. If left untreated, the condition could cause serious (and sometimes fatal) complications for the mother and the baby.

    ● Other health issues — MTHFR mutations can cause such health issues as hypertension, glaucoma, psychiatric disorders, and even some types of cancer. Some of these problems can make it hard for a woman to have a successful pregnancy.

    Problems caused by MTHFR mutations during pregnancy are associated with low folate levels. To avoid this issue, it's imperative to focus on preventive measures that commonly include taking supplements.

    MTHFR and Miscarriages

    Regular research is being done to understand how MTHFR mutations affect pregnancy. Recurrent pregnancy loss is one of the issues that requires further studies.


    Earlier research4 in 1997 found that women with homozygous MTHFR 677 mutations (677TT) had a 2-3 times greater risk of miscarriage due to high homocysteine levels. According to the research5 done in 2018, no connection has been found between MTHFR mutation and miscarriages.


    However, two studies conducted in 2019 (one in Canada6, and one in China7) showed the opposite. The former found the relationship between homocysteine concentration and placenta-mediated complications. The latter noted the connection between mutations of one or two MTHFR gene copies and unexplained recurrent pregnancy loss.


    Considering the conflicting results of the above-mentioned studies, more research needs to be done to confirm the connection. If a woman has recurrent miscarriages, a doctor may recommend genetic testing in order to prepare for possible complications.

    MTHFR C677T Pregnancy

    One specific MTHFR SNP mutation is C677T. This mutation can cause hyperhomocysteinemia. This condition is characterized by high levels of homocysteine in the blood. Elevated homocysteine levels damage the lining of the arteries and speed up the blood clotting.


    Some studies8 show the relationship between hyperhomocysteinemia during pregnancy and preeclampsia, placental abruption, and miscarriage. Meanwhile, others don't show any correlation between these conditions.


    While more research needs to be done to prove the connection between MTHFR C677T and pregnancy, doctors recommend taking folate supplements to prevent hyperhomocysteinemia.

    MTHFR A1298C Pregnancy

    Just like C677T, A1298C mutation can have a negative effect on pregnancy. Research found9 that women with A1298C mutation suffered from elevated homocysteine levels. It showed that women carrying this gene SNP are at significant risk of vascular-related pregnancy complications.


    Another study showed10 that women who experience preeclampsia during their first pregnancy are more likely to have the A1298C SNP, higher levels of homocysteine, and babies with low birth weights. The compound heterozygous mutation (C667T + A1298C) is more likely to cause pregnancy complications than a single mutation in just one gene SNP.

    MTHFR Treatment During Pregnancy

    Many women live with MTHFR gene mutations and can still give birth to healthy babies. However, if the mutation is discovered before or during pregnancy, several treatment options exist to improve the health of both the fetus as well as the mother.

    Preventive Measures

    Since MTHFR mutations cause folate deficiency, the key to preventing negative consequences is maintaining proper levels of folate in the blood system.


    According to the CDC11, taking 400mcg of folic acid daily before and during pregnancy can increase the chance of having a healthy baby for women with MTHFR gene mutation.


    However, most doctors agree that taking the active form of folate, L-methylfolate, gives women a much better chance of having a healthy pregnancy. This is particularly true for women who have MTHFR mutations because they cannot properly convert the folic acid into the directly usable form of folate their body so badly needs, (6S)-5-methyltetrahydrofolate.


    In fact, the European Journal of Obstetrics & Gynecology and Reproductive Biology12 had some very specific concerns about folic acid and their findings encourage L-methylfolate as a superior approach to women’s health during pregnancy.

    Treatment During Pregnancy

    If you don't have any complications during pregnancy, you may not need any treatment. However, your doctor may prescribe medication to prevent excessive blood clots and increase folate levels.


    The treatment may include:

    ● Taking vitamins (including B12 and prenatal vitamin with L-methylfolate)

    ● Taking folate supplements

    ● Taking aspirin

    ● Heparin injections

    ● Diet adjustments (eating more folate-rich food to improve methylation)


    If a woman suffers from hyperhomocysteinemia, additional treatment is needed.


    Methyl-Life® has a line of products aimed specifically at countering complications related to MTHFR mutations during pregnancy. The ultra-pure methylfolate contained in these supplements has already helped thousands of people with MTHFR gene mutations live happy and healthy lives.

    Living with an MTHFR Mutation During Pregnancy

    If you have an MTHFR mutation, it doesn't mean you will face pregnancy complications. While some research associates these mutations with health problems and birth defects, it's possible to prevent them with the right treatment.


    By leading a healthy lifestyle, monitoring your diet, and taking the right supplements, it's possible to avoid complications and give birth to a healthy baby.


    Methyl-Life's® methyfolate-based vitamin package is designed to support a woman's health during pregnancy, especially if she has an MTHFR gene mutation. This vitamin set contains the much-needed active B-12, a generous dose of L-Methylfolate, as well as a methylation-supporting multivitamin. Together, these supplements can help prevent pregnancy complications associated with the common MTHFR mutations.

    References

    1. Darya Gaysina; "Folic acid in pregnancy – MTHFR gene explains why the benefits may differ"; The Conversation; 2018 May

      https://theconversation.com/folic-acid-in-pregnancy-mthfr-gene-explains-why-the-benefits-may-differ-95302

    2. --

      https://www.cdc.gov/ncbddd/birthdefects/anencephaly.html#:~:text=How%20Many%20Babies%20are%20Born,anencephaly%20in%20the%20United%20States.

    3. Norma C Serrano, Doris Cristina Quintero-Lesmes, Silvia Becerra-Bayona, Elizabeth Guio, Mónica Beltran, María C Paez, Ricardo Ortiz, Wilmar Saldarriaga, Luis A Diaz, Álvaro Monterrosa, Jezid Miranda, Clara M Mesa, José E Sanin, German Monsalve, Frank Dudbridge, Aroon D Hingorani, Juan P Casas; "Association of pre-eclampsia risk with maternal levels of folate, homocysteine and vitamin B12 in Colombia: A case-control study"; PLoS One; 2018 Dec

      https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283543/#:~:text=Low%20levels%20of%20folate%20and,pre%2Declampsia%20%5B14%5D.

    4. Willianne LDM Nelen, Eric AP Steegers, Tom KAB Eskes, Henk J Blom; "Genetic risk factor for unexplained recurrent early pregnancy loss"; Research Letters, Vol. 350, Iss. 9081, p.861; 1997 Sep

      https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(97)24038-9/fulltext

    5. Domenico Dell'Edera, Antonella L'Episcopia, Francesca Simone, Maria Giovanna Lupo, Annunziata Anna Epifania, Arianna Allegretti; "Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms and susceptibility to recurrent pregnancy loss"; Biomedical Reports; 2018 Jan

      https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778916/

    6. Shazia H. Chaudhry, Monica Taljaard, Amanda J. MacFarlane, Laura M. Gaudet, Graeme N. Smith, Marc Rodger, Ruth Rennicks White, Mark C. Walker, Shi Wu Wen ; "The role of maternal homocysteine concentration in placenta-mediated complications: findings from the Ottawa and Kingston birth cohort"; BMC Pregnancy and Childbirth; 2019 Feb

      https://bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-019-2219-5

    7. Yajuan Xu, Yanjie Ban, Limin Ran, Yanru Yu, Shanshan Zhai, Zongzong Sun, Jingzhe Zhang, Miao Zhang, Teng Hong, Rui Liu, Lidan Ren, Lulu Hu; "Relationship between unexplained recurrent pregnancy loss and 5,10-methylenetetrahydrofolate reductase) polymorphisms"; Fertility and Sterility, Original article, Vol. 111, Iss, 3, p. 597-603; 2019 Mar

      https://linkinghub.elsevier.com/retrieve/pii/S0015028218322064

    8. William Martin Hague; "Homocysteine and pregnancy"; Best practice & research. Clinical obstetrics & gynaecology; 2003 Jun

      https://pubmed.ncbi.nlm.nih.gov/12787538/

    9. Klai, Sarraa; Fekih-Mrissa, Najibaa; El Housaini, Soniab; Kaabechi, Nazihac; Nsiri, Brahima; Rachdi, Radhouenc; Gritli, Nasredinea; "Association of MTHFR A1298C polymorphism (but not of MTHFR C677T) with elevated homocysteine levels and placental vasculopathies"; Blood Coagulation & Fibrinolysis; 2011 Jul

      https://journals.lww.com/bloodcoagulation/Abstract/2011/07000/Association_of_MTHFR_A1298C_polymorphism__but_not.4.aspx

    10. Peter Chedraui, Danny Salazar-Pousada, Alejandro Villao, Gustavo S Escobar, Cecibel Ramirez, Luis Hidalgo, Faustino R Pérez-López, Andrea Genazzani, Tommaso Simoncini; "Polymorphisms of the methylenetetrahydrofolate reductase gene (C677T and A1298C) in nulliparous women complicated with preeclampsia"; Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology; 2014 May

      https://pubmed.ncbi.nlm.nih.gov/24611473/

    11. "MTHFR Gene and Folic Acid"; Centers for Disease Control and Prevention (CDC)

      https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html

    12. Enrico Ferrazzi, Giulia Tiso, Daniela Di Martino; "Folic acid versus 5- methyl tetrahydrofolate supplementation in pregnancy"; European Journal of Obstetrics & Gynecology and Reproductive Biology, Vol. 253, Pg. 312-319; 2020 Oct

      https://www.sciencedirect.com/science/article/abs/pii/S0301211520303754#:~:text=Folic%20acid%20is%20commonly%20used,to%20the%20mother%20and%20fetus.

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