While the list of disorders associated with MTHFR mutations can be a long and eye-opening one, those conditions involving pregnancy or the ability to fall pregnant can be the most heartbreaking and saddening to see.

Below I have broken down he latest research on the three most common pregnancy-related issues associated with MTHFR genes, and explain just how these important genetic mutations could be playing a role.

1. Recurrent Pregnancy Lost (RPL)

In the world of MTHFR and fertility, it unfortunately isn’t uncommon to hear many stories of women dealing with recurrent miscarriages.

And while science is still working to unearth the key role MTHFR is playing in RPL, it does understand the role your MTHFR gene plays in ensuring your levels of homocysteine do not elevate too high.

Homocysteine is an amino acid (small protein) that in excessive amounts can cause blood clots.

And while the jury is still out, some scientists have put forward the hypothesis that these blood clots may form close to the placenta, causing a block in the flow of nutrients to the fetus in it’s early stages of growth.

There are several key genetic mutations that have been associated with an increased risk of clot formation, with the MTHFR genes being some of them.  And while studies tend to examine these genes in isolation, one study looked at the effect of these genes in unison and found the cumulative effects of multiple genetic mutations (such as Factor V Leiden and MTHFR) are indeed risk factors for RPL.

This study also found that women suffering from RPL were more likely to carry a homozygous mutation, that is, two copies of a genetic mutation as opposed to one copy, or no mutated copies.

The good news is more and more doctors, specialists and health practitioners are starting to test women who have either a family history of thrombophilia’s or who are experiencing RPL for these clothing related genes. The normal recommendations within the medical field to support these genes is to prescribe folate, B Vitamins and anti-clotting medicines like heparin or baby aspirin.

2. Preeclampsia

Both variants of the MTHFR gene, A1298C and C677T, have been implicated in preeclampsia, with different studies yielding differing results.

Research has found mutations to the MTHFR A1298C gene to be significant risk factors for several vascular-related pregnancy complications.  In this paper, researchers found significantly higher plasma homocysteine levels and increased risk of premature separation of the placenta from the wall of the uterus, smaller fetuses, recurrent pregnancy loss, and preeclampsia among pregnant women with MTHFR A1298C mutations.

Another study found women with preeclampsia in their first pregnancy are also more likely to have MTHFR A1298C mutations, higher homocysteine levels, and babies with lower birth weights.

However, the MTHFR C677T variant has also been implicated in preeclampsia, with women suffering from preeclampsia more likely to be carrying a homozygous MTHFR C677T mutation (meaning two copies of the mutated gene).  So while these studies have examined different MTHFR genes and aspects of pregnancy health, both C677T and A1298C variants have been shown to play roles in complications during pregnancy.

3. Fetal Developmental Disorders

The foundational reason MTHFR mutations require our acknowledgment and support, whether pregnant or not, is due to their vital role in creating active folate, which we need for cell division and healthy DNA production. Read more about that here.

Having healthy levels of DNA during pregnancy has clearly been linked with the prevention of developmental problems including neural tube defects such a spina bifida and anencephaly.

And while these links are common knowledge within the medical sector, research now also shows:

• The presence of the maternal homozygous MTHFR C677T variant linked with the development of childhood asthma
• An association between MTHFR and autism spectrum disorders
• MTHFR C677T and A1298C linked with orofacial clefts in Iranian children, and congenital heart disease in Chinese populations

While science still needs to definitively show MTHFR as a true cause in many of these conditions, there can be no doubt MTHFR is highly suspect in RPL, preeclampsia, and other pregnancy complications.

With this in mind, the best advice I can give to women who are pregnant or preparing for pregnancy is to strongly consider screening yourself and your partner for the MTHFR gene and other clothing factors if appropriate.

And always remember, if you do have a variant genotype, know that there are a number of available treatments that are simple and easily accessible, assisting you to have a healthy pregnancy and a thriving baby.

Founder MTHFR Support Australia