What You Need To Know About MTHFR Gene Mutation And Pregnancy

by Wendy Wisner
Originally Published: 
Jenna Edwards

When the unimaginable happened and Jenna Edwards’ son, Greyson, was stillborn at 34 weeks, Edwards naturally was on a search for answers. Why had her otherwise healthy baby passed so suddenly after a completely uncomplicated, textbook pregnancy? After performing several tests and exams, her OB could not find a reason for his death.

“My OB ‘guessed’ it was a cord accident, but other than a longer than average cord, the pathology reported clots and that the placenta was smaller than average for the gestational age,” Edwards tells Scary Mommy.

Unwilling to give up on her quest, Edwards found a new OB, who was open to digging a little deeper. “After the first few months of initial shock and grief, I sought out a new OB who ran every test under the sun, and urged me to wait to become pregnant again until the tests came back,” she recounts.

But what her OB found is something that Jenna herself had never heard of, and that remains somewhat controversial in the medical world as a cause for stillbirth, miscarriage, or other pregnancy complications. It’s a genetic mutation called MTHFR mutation, and since Edwards had a homozygous form of the mutation, her new OB felt that further testing was warranted.

Edwards’ OB cautioned her not to get pregnant again until the tests were run and a plan was put in place to protect Edwards during any upcoming pregnancies. Then she sent Edwards to a Maternal-Fetal Medicine (MFM) specialist, who ran a few more tests.

“She [the MFM specialist] ran an additional PAI-1 genotype test that confirmed I had a higher risk of blood clotting during pregnancy, and she recommended that I begin daily injections of a prophylactic dose of Lovenox for any subsequent pregnancy at 8 weeks to ensure viability. After experiencing a very early chemical pregnancy a few months later, I was pregnant with my rainbow baby two cycles later!”

In addition to the Lovenox, Edwards’ OB told her to take baby aspirin daily as an additional protection against blood clots. Edwards herself did some investigation and learned that MTHFR carriers like herself should take a methylated form of folate during pregnancy. Synthetic folic acid cannot be properly broken down by some MTHFR mutation carriers, explains Edwards, and methylfolate is an active form of folate which can be more readily used and absorbed, ensuring that mothers with MTHFR mutation can provide proper folate for their baby’s growth.

After a thoroughly and carefully monitored pregnancy, Edwards’ second son, Gavin, her rainbow baby, was born healthy and thriving, just 18 months after Greyson’s passing. You can listen to Edwards’ tell her heartbreaking, but ultimately healing story over on The Birth Hour’s podcast. I warn you that you will need a boatload of tissues.

Jenna Edwards

Edwards is now on a mission to educate others about MTHFR mutation, and to urge any woman who has had unexplained pregnancy losses to find a doctor who will listen and exhaust all avenues of investigation to find answers.

Now, obviously, just because a pregnancy is lost or results in stillbirth, it does not meant it is attributed to MTHFR.

But what is MTHFR gene mutation, and how might it affect pregnancy?

Simply put, MTHFR is a gene that we all have, but for some of us, a mutation of the gene can be present. “We all carry two copies of MTHFR,” explains the National Institute of Health (NIH), “MTHFR tells our body how to create an enzyme involved in breaking down the amino acid homocysteine. As is true for any gene, the DNA code of the MTHFR gene can vary.”

What happens if you have a mutation of MTHFR, and how might this impact your pregnancy? Well, the answer is kind of complicated (and still somewhat controversial), so we at Scary Mommy went ahead and interviewed a few MD’s to answer these questions and shed some much-needed light on the whole matter.

Ready? Here goes.

According to Dr. Alan B. Copperman, Director of the Division of Reproductive Endocrinology and Infertility at Mount Sinai and Chief Medical Officer of Sema4, there are two main ways that MTHFR mutation could theoretically impact your pregnancy: inadequate folate absorption in mothers, and the propensity for the mother’s body to form blood clots during pregnancy that would be harmful for the growing fetus.

Additionally, Dr. Verónica Maria Pimentel, a Maternal Fetal Medicine Specialist, tells Scary Mommy that certain studies have linked MTHFR mutation with mothers having an increased risk of babies with neural tube defects. “Fortunately, we routinely supplement all pregnant women with folic acid to prevent neural tube defects,” she explains.

Dr. Copperman elaborated on the links between MTHFR, folate absorption, and diet. “Methylenetetrahydrofolate reductase (MTHFR) plays an important role in folic acid metabolism,” he said. “Folic acid works with other vitamins to help red blood cells deliver oxygen. Variations in the sequence of MTHFR gene have been implicated in the causing infertility or delayed conception in some patients.”

Dr. Copperman explains that (like Edwards’ doctor) he is most concerned when patients have two copies of a certain variant of the mutation, as that leaves them more vulnerable to blood clotting issues. “When a patient carries two copies of certain variations of the gene, blood levels of the amino homocysteine could rise and place the patients at risk for medical problems including blood clots,” explains Dr. Copperman.

Still, Dr. Copperman cautions that simply having a MTHFR mutation is not enough of a reason for you to go into panic-mode. It turns out that MTHFR mutations are quite common, and only rarely impact fertility.

“There are some reputable studies that tie MTHFR mutations to miscarriages and other reproductive issues, but the majority of studies suggest that the mutation is actually fairly benign,” assures Dr. Copperman. “In fact, depending on ethnicity, somewhere between 25 and 40% of women carry one copy of the mutation, and the vast majority of them do not experience reproductive challenges.”

All of this is why some doctors, including several of those interviewed, are very skeptical of connecting MTHFR mutations with fertility and pregnancy issues—and is why many medical professionals don’t even suggest that mothers get tested for it (which is what happened with Edwards and her first OB).

Dr. Asima Ahmad, OB/GYN, as well as co-founder and Chief Medical Officer of Carrot, a product that makes it easier for companies to offer fertility coverage to employees, cites the American College of Obstetricians and Gynecologists’ (ACOG) statement on the matter, which says that testing for MTHFR should not be performed on mothers, even if they are experiencing fertility issues.

“The American College of Obstetricians and Gynecologists (ACOG) does not recommend routine screening of MTHFR (Methylenetetrahydrofolate Reductase),” Dr. Ahmad tells Scary Mommy. “There is not an association between MTHFR (either heterozygous or homozygous status) and poor pregnancy outcomes for baby or increased risk of blood clot (venous thromboembolism) for the mother. […] For this reason, I do not routinely check MTHFR levels in my patients.”

Since ACOG does not support testing mothers for MTHFR mutation, you have to really be an advocate for yourself if you want answers regarding the mutation. You must seek out doctors who are on top of the newest research, and willing to investigate and seek out answers.

For Edwards, getting tested for MTHFR, and then receiving treatment for it, was exactly what brought her some much needed solace as she put together the events of her stillbirth, and prepared for her upcoming birth.

“For me, having the mutation was at least some sort of reason or explanation as to why my first son died,” Edwards shares with Scary Mommy. “Taking the Lovenox daily helped to make me feel like at least I was doing everything in my power to help my son have a chance at life, and I’m confident that with that and my amazing team of care providers I was able to birth a healthy baby and hopefully future siblings to come! It gave me the confidence back in my body again, and that a mother’s instinct is so crucial.”

Jenna Edwards

Hopefully we will see more research done in the area of MTHFR gene mutations and pregnancy loss.

As always, if you have any concerns about your fertility or reproductive health, never hesitate to seek out the counsel/support of your doctor.

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