MTHFR and Fertility Complications

You’re ready to become a parent. You replaced birth control pills with prenatal vitamins, expecting to be expecting any day now.

After a few months, you begin to think your early pregnancy tests are defective since there’s no “+” sign or blue line in sight.

Next up, you visit the infertility specialist for some tests. Your doctor doesn’t see any problem, but a year goes by and still no conception. “Unexplained infertility” is the diagnosis recorded in your chart — and you feel completely devastated.

Waves of fear and sadness wash over you as you begin to believe you’ll never know what it’s like to be a mother to your own children. How can this be fair? So many women have no desire to become a mother, and you absolutely won’t feel complete unless you can be.

No doctor seems to think there’s anything wrong with you, or your partner, so why the hell are you struggling so much?  You may have an MTHFR Mutation preventing your pregnancy. Read on to discover why this gene abnormality is often overlooked and how you can determine if it is affecting your chances of having a successful conception.

Does MTHFR affect fertility?

Absolutely! The MTHFR (methylenetetrahydrofolate reductase) gene affects folate levels. Folate is one of the most important nutrients for fertility. It helps regulate your DNA, and without healthy DNA a successful pregnancy is unlikely.

Folate is also essential for hormone synthesis, a crucial component of fertility. While there’s plenty of misinformation on MTHFR and pregnancy, you can learn more about the truths in this article.

Regardless of the misinformation, the truth is that a lack of folate can make pregnancy, or the potential to become pregnant, extremely difficult. Different types of MTHFR gene mutations exist, and some affect pregnancy more than others. Did you know that many women who have recurrent pregnancy loss test positive for the MTHFR gene mutation?

Recurrent Pregnancy Loss and MTHFR

Recurrent pregnancy loss (RPL) occurs when there are two or more consecutive pregnancy losses. Often times, women don’t even realise they’ve had a miscarriage when they experience a clotting period at an irregular time in their cycle.

Research suggests that both the C677T and A1298 homozygous polymorphism in the MTHFR gene are linked to (RPL). However, no scientific evidence exists declaring MTHFR as the cause for RPL. Here is a simple explanation on pregnancy-related issues connected with MTHFR genes and how these genetic mutations could be playing a critical part. Fortunately, this situation can be reversed and the risks minimised by supplementing with the correct form of folate.

Vascular complications play a principal role in RPL as well. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. If you have experienced multiple miscarriages, your doctor will suggest tests to determine the cause of recurring losses.

Often the test results will show nothing conclusive unless he or she requests a specific blood test called methylenetetrahydrofolate reductase mutations testing, or MTHFR DNA testing. Should your doctor discover elevated homocysteine levels, an MTHFR Genetic Test is your next best step.

Here’s why homocysteine levels matter.

When present in high concentrations, this amino acid can cause blood clots. As small blood clots develop in the uterus, the placenta can block the circulation of nutrients and oxygen to the fetus in its early stages of growth.

Women with elevated homocysteine levels are typically found in those with homozygous mutations. Various treatments are available to you if you fall into this category. Your doctor might recommend folate, B Vitamins and anti-clotting medicines like heparin or baby aspirin.  If you want MTHFR specific help with your MTHFR gene mutation take our look at our fertility program and solve your MTHFR and fertility issues once and for all!


MTHFR mutations are also connected with an increased risk of preeclampsia during pregnancy. Those who suffer from this condition have higher levels of homocysteine. Having an MTHFR mutation won’t allow for the proper folate metabolism required to break down homocysteine.

Two of the most common MTHFR genes tested are C677T and A1298C. If the test reveals two of the C677T gene, or a C677T and one A1298C, blood work will often show elevated homocysteine levels for the patient as well. But two A1298C genes usually are generally not associated with elevated homocysteine levels. Read more about problems associated with high homocysteine here and about low homocysteine levels here.

Fetal Developmental Disorders

MTHFR mutations require our acknowledgment and support because of their important role in creating the active folate required for cell division and healthy DNA production. Pregnant women who have a positive MTHFR mutated gene encounter a variety of complications during pregnancy (if they can conceive) when folate levels are low. Complications can include neural tube defects such as:

  • Spina bifida – A birth defect where the spinal cord sticks out of the baby’s back, creating nerve damage.
  • Anencephaly – A serious birth defect where a baby is born without parts of their brain or skull.

Test for MTHFR Mutations

While there’s no scientific declaration stating MTHFR is the true cause in many of these conditions, there is no doubt MTHFR plays a part in RPL, preeclampsia and other pregnancy complications. In my experience working with fertility patients with unexplained fertility, recurrent miscarriage, failed IVF and placenta issues, addressing the lack of folate caused by MTHFR genetic mutations and associated nutrients deficiencies can make all the difference to a successful pregnancy.

If you think you might have the MTHFR genetic polymorphism you can order your test kit here. If your test came back positive for the MTHFR mutation and you would like more information or guidance in navigating a supportive course of action for your health, please join us here.