MTHFR Gene Mutation and Pregnancy

Every human has the gene known as 5-Methyltetrahydrofolate, but a significant percentage of humans have a mutation of that gene, simply known as MTHFR Mutation. MTHFR mutation boils down to the body’s inability to break down folate. Folate is imperative to the process of making DNA and modifying certain proteins as they relate to DNA. When looking closely into MTHFR, we find that people with this mutation have high levels of homocysteine. Homocysteine is the amino acid produced when proteins are broken down within the body. This high level of homocysteine can lead to arterial damage and blood clots. Hand in hand with this elevated homocysteine level, we find both a folate and vitamin B-12 deficiency. MTHFR mutation is hypothesized to affect 25% of hispanic people and 15% of white, and is likely to affect 40% of the overall population according to the genetic care and rare diseases information center. This mutation is not a random occurrence, in fact it appears to be passed through genetics only, meaning it is very hereditary.

So how does this gene mutation affect pregnancy? Well, the entire answer to this question is still cloaked in uncertainty, but here is what we know. The first clue that may prompt a Dr. to test for the mutation is recurrent miscarriages. However, it is important to note that at this time there is no solid evidence that MTHFR is at fault for these miscarriages. It is anecdotal evidence we have collected in caring for these individuals, but has not been officially studied and scientifically proven. It is hypothesized that these miscarriages could be the result of irregular clotting factors that come with the mutation, as these clots can form within the placenta and interfere with proper development. Alongside the potential risk of miscarriage we find heightened risk for Pre-eclampsia, neural tube defects, spina bifida, anencephaly, and of course blood clots.

Treating pregnant patients with MTHFR mutation has no hard and fast rules. Many Drs may recommend nothing more than a daily aspirin and folate supplement, while others may recommend a similar regime in combination with heparin or lovenox injections through to the second trimester. In patients with a history of blood clots, these shots may be recommended throughout the entire pregnancy and up to 6-8 weeks postpartum. Extra testing and scans may also be recommended as MTHFR gene mutation brings about an increased risk of preeclampsia, neural tube defects, blood clots, preterm birth, and spina bifida. For patients that use lovenox injections, it is recommended that they be replaced with heparin injections at roughly 36 weeks gestation. This is due to the blood thinning factor that can lead to an increased risk of postpartum hemorrhage. In fact, the risk for hemorrhage goes up to 12% in the event that you have been injected within the 24 hours prior to the onset of labor.

The MTHFR gene mutation is still largely a medical mystery. The lack of concrete evidence means that your treatment plan should stay an ongoing and in-depth conversation with your birth team throughout your pregnancy. Remember that you are in the driver’s seat of your pregnancy, labor, birth, and postpartum. A treatment regimen that feels safest to you is imperative to a happy, healthy pregnancy.

Resources:

A scientific summary of MTHFR: https://www.healthline.com/health/homocysteine-levels#symptoms

No Scientific evidence to link miscarriage to MTHFR is broken down here https://www.medicinenet.com/can_you_get_pregnant_with_mthfr_gene_mutation/article.htm

The study discussing the risk of postpartum hemorrhage when actively using lovenox injections 24 hours or less before labor- https://pubmed.ncbi.nlm.nih.gov/22475315/

This blog was written by a former Tranquility by HeHe team member.