Over the last 15 years, there has been an increasing awareness of the MTHFR genetic mutation and its association with pregnancy risks and birth defects. A growing number of scientists have published studies highlighting the direct link between MTHFR and pregnancy related issues and have recommended that the medical field to take action; but despite this, many doctors fail to look at MTHFR genetic analysis. Every year, many women suffer and pay a very high price because of this mind-blowing act of unacceptable oversight. Sadly, there are still few doctors that have a solid knowledge on MTHFR. Just in the last ten years, I have seen many female patients in tears saying: “I wish I had known before.” It is for that reason that I am writing this article.

Put simply, your body needs folate to make DNA and modify proteins. Your MTHFR gene provides instructions for your body on how to make the MTHFR protein, which helps your body process folate (20). MTHFR is an enzyme responsible for the breakdown of raw folate, or folic acid, to create methylated folate. It is responsible for converting dietary folate (raw folate) to active folate (methylated folate) (4). For your methylation cycle to work properly, your body needs methylfolate (the methylated form of vitamin B9) and methylcobalamin (methylated vitamin B12). If you are deficient of any of these nutrients, your methylation cycle is disrupted and so are two hundred other vital processes in your body.

Within the first 28 days of pregnancy, the neural tube, which is responsible for the development of the brain and spine, closes. Inadequate concentrations of folate can prevent closure of the neural tube, which can lead to a neural tube defect. If women have a mutated MTHFR gene, they are not going to be able to produce enough folate, which is vital and crucial for the health of the baby. Why is it crucial? Because methylated folate converts homocysteine to methionine, which is needed for the baby to make and repair DNA and to produce red blood cells.

The MTHFR gene normally produces an enzyme that helps regulate homocysteine levels in the body. However, with a mutated MTHFR gene, the mother may have a high level of homocysteine in her blood. What does that mean? High levels of homocysteine result in two to three times more increased risk for preeclampsia (pregnancy-induced hypertension); placental abruption; neural tube defects including spina bifida, anencephaly, and intrauterine growth restriction; polycystic ovarian disease (PCOD) (6); and recurring pregnancy loss. (1) (2) (3) (7) (16) (35)

Unfortunately, the majority of women are still given prenatal vitamins with folic acid (containing at least 800 μg) during their pregnancy. This is cause for concern because women who have a MTHFR gene mutation will not be able to fully process the folic acid in the prenatal vitamins and their body will build up toxicity because of the presence of unmetabolized folic acid. It is scientifically proven that high supplemental folic acid intake during pregnancy for women that have a MTHFR mutation may lead to pseudo-MTHFR deficiency, disturbed choline/methyl metabolism, embryonic growth delay and memory impairment in offspring (25) neurobehavioral abnormalities in newborns (26), or a greater incidence of defects in embryos (27). There are many studies that stress the unintended negative consequences of supplemental folic acid, but many women are still not warned to avoid supplements that include folic acid. Because of this, women are having miscarriages or having unhealthy babies without having any idea why. For women that have MTHFR mutations, they should replace folic acid with methylated folate.

The risk is so well-researched that it is natural to expect all women would get tested for MTHFR mutations. The reality is, in though, most doctors will not test for these mutations until the woman has either had a few miscarriages or has already had a baby born with autism.

In 1998, the U.S. Food and Drug Administration required that folic acid be added to processed grain products like breakfast cereals, pasta, rice, and bread in order to reduce the risk of infants developing these birth defects. What the FDA did not consider is that folate and folic acid are not the same thing. That was back in 1998. The worst part is that despite all the studies clearly proven supplementation of the natural form, 5-methylTHF, is a better alternative to supplementation of folic acid (12) (13) (14) (15) (17) (18) (19) (28) (29) (37) there are still doctors today that are still giving prenatal supplements containing with folic acid to pregnant women.

Do not get me wrong, folic acid supplementation will prevent most birth defects, but for women who have MTHFR mutations, methylated folate is a much better choice (12) (13) (14) (15) (17) (18) (19) (28) (29) (37). MTHFR mutations have been associated with autism by many studies because unmetabolized folic acid may increase toxicity and affect brain development in the womb (64) (65) (66) (67).

Consequences of high homocysteine during pregnancy include:

  • Neural Tube Defects (NTDs)
    The neural tube forms the early brain and spine and when it does not close properly somewhere along its length, the result is a hole in the spinal column or another type of birth defect. The most common NTDs are spina bifida (a spinal cord defect) and anencephaly (a brain defect), along with encephalocele (opening in the skull) and iniencephaly (head that is bent severely backward) (38) (47) (48). The studies suggest genes that are linked with the occurrence of NTDs, especially the MTHFR gene, are directly and indirectly responsible for controlling the closure process of the neural tube (45). When folate is not converted to its active form, the lower folate levels in the blood may cause an impairment of the brain, skull, and spinal cord during pregnancy. Approximately 20% of women who have a child with a neural tube defect have an abnormal homocysteine metabolism (58). There are many studies out and yet more coming all around the world that prove the strong connection between MTHFR mutation and the risk of NTDs in the fetus (39) (40) (41) (42) (43) (44) (46).
  • Homocystinuria
    Homocystinuria due to MTHFR deficiency is a genetic disorder that results from poor metabolism of folate in which the body cannot break down a particular amino acid. Children born with homocystinuria often experience blood clotting, feeding difficulties, learning disabilities, movement disorders, skeletal abnormalities, psychiatric disturbances, and in some cases eye problems (50) (51) (52).
  • Hyperhomocysteinemia
    Hyperhomocysteinemia is linked to MTHFR C677T, and researchers are finding more and more data on its connection to recurrent miscarriages and cardiovascular diseases, especially in women with preeclampsia (dangerously elevated high blood pressure during pregnancy) and placental abruption (where the placenta detaches from the uterus) (53) (54) (55) (56) (57) (59) (60).
  • Unexplained Recurrent Pregnancy Loss (URPL)
    Unexplained recurrent pregnancy loss results from many factors such as obesity, high maternal age, smoking, alcohol usage, etc. However, many recent studies have found that the occurrence of URPL is statistically associated with MTHFR mutations as well (61) (62) (63).

Many scientific studies have shown that women who have MTHFR mutations have a high risk of NTDs, recurrent pregnancy loss, congenital abnormalities, and more (8) (9) (10) (11) (21) (22) (23) (24) (30) (31) (32) (33) (34) (49). However, there have been no official medical recommendations to replace folic acid with methylated folate, or to perform additional screenings based on genotype alone.

Ask yourself; Would you want to know if you had this risk factor? I do not know any woman who would answer “no” to this question.

The medical establishment accepts the fact that some MTHFR mutations leads to a higher risk for the pregnancy, and yet the test is not a standard procedure. They think if women have high homocysteine levels, they can just treat the homocysteine (the symptom) and ignore the MTHFR mutation (the root cause) which has further implications that go beyond just homocysteine, such as unmetabolized folic acid toxicity.

Maybe the reason is that most doctors do not have enough knowledge of MTHFR and how to support methylation. Half of my patients with the MTHFR mutation started their care with another health care professional but ended up leaving them because of their lack of knowledge on MTHFR gene mutations.

The solution is simple, when you know exactly if you have a MTHFR mutation, what type of mutation it is and what to do for each mutation.

NTDs, which affects 3,000 pregnancies in the United States and more than 300,000 worldwide every year, are preventable; however, you can only prevent them early on in pregnancy. Since MTHFR is a key factor why wait to get tested for MTHFR mutations?

My main motivation to create MTHFRDoctors.com was to educate patients and healthcare professionals on the direct link between MTHFR genetic mutations and health issues.

Being trained in Chinese medicine I should point out that the Chinese word for “doctor” is “Dai Fu”. Dai = doctor and Fu = educator. A word to all health care professionals reading this article: we should educate ourselves constantly and pass the knowledge on to our patients so that they can make better choices.

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