- Health

What to do if you are pregnant and have MTHFR gene defect?

What is the MTHFR gene defect?

MTHFR also known as Methylenetetrahydrofolate Reductase, is an enzyme that plays a remarkable function in your body. MTHFR makes feasible the transformation of folate or folic acid into 5-methyltetrahydrofolate or methylfolate, the active form of folates (vitamin B9). The presence of methylfolate prompts the DNA, RNA synthesis, and formation of new healthy red blood cells.

You carry two copies of the MTHFR gene that instruct your body how to produce the MTHFR enzyme, which is involved in amino acid metabolisms. Unfortunately, when the MTHFR gene is defective or mutated, your body loses the ability to synthesize this enzyme or produce it in a small amount. Many health issues are related to its deficiency, such as; high homocysteine level,cardiovascular diseases, brain tissues, and affects pregnancy. Two variants of the MTHFR gene are;

  • A1298C
  • C677T

Pregnancy and MTHFR gene mutation:

The mutation in the MTHFR gene causes many diseases; here, we disclose its effects on pregnancy. Women can conceive with muted MTHFR gene, but they may experience complications during pregnancy, including;

  • Preeclampsia: The condition in which a pregnant woman may experience high blood pressure during the pregnancy period.
  • Anencephaly: This is a serious neural tube defect in which a baby is born with a reduced brain and skull. The babies cannot survive and die after a few hours or days.
  • Spina bifida: This is also a birth defect in which the spine and spinal cord do not close properly. However, babies born with spina bifida can survive.

If you are pregnant and have a defective gene, your body cannot convert folate into methylfolate, affecting your baby’s growth. And high homocysteine level causes blood clotting in your body; blood clots may get stuck in the placenta and may lead to miscarriage.

Some studies support that the MTHFR C677T variant is responsible for miscarriage, but no firm evidence exists.

In 2018, Italian research showed that C677T mutation does not cause spontaneous abortion. But, in 2019 china study showed that this variant increases the chances of recurrent miscarriage.

Additionally, studies indicate that hyperhomocysteinemia increases the chances of recurrent pregnancy loss.

Testing for MTHFR:

Many medical associations are against testing the MTHFR gene variant. There’s no need for every pregnant woman to test the MTHFR variant. Your doctor only allows you for testing if you have lost multiple pregnancies, a child born with neural tube defects, and your family history has muted gene. This test is expensive; you can’t afford it.

Results are delivered within 1-2 weeks.

If you have two A1298C gene variants, they are usually not responsible for high homocysteine levels and pregnancy loss.

What treatment options are present if you are pregnant and have an MTHFR mutation?

If you are positive with MTHFR gene mutation, take a long breath and relax; it’s not true that all pregnant women lose their pregnancy due to MTHFR gene mutation. Massive data indicate that many women maintain their pregnancy and successfully give birth; despite their MTHFR gene being muted.

The proper treatment is still not available. However, doctors recommended medicines that help to prevent blood clotting and increase folic acid levels.

  1. Heparin or Lovenox injections:These injections stop the formation ofblood clots between the placenta and uterine wall. And it prevents recurrent miscarriages. The women should start this treatment at the beginning of pregnancy.
  2. Aspirin: Aspirin is also used to prevent blood clot formation—however, no scientific evidence in favor of aspirin benefits treatment or not.
  3. Prenatal vitamin containing L-methylfolate: Your doctor may recommend using prenatal vitamin containing L-methylfolate. You know L-methylfolate is the active form of folic acid and works efficiently. It promotes the synthesis of red blood cells and DNA necessary for the growth of fetus cells.


MTHFR is the enzyme involved in the breakdown of homocysteine and converts folate and folic acid into l-methylfolate. While mutation occurs in the MTHFR gene reduces the production of enzymes. It may cause complications in pregnant women that are muted to this gene. However, many women successfully carried their pregnancies with defective MTHFR genes by proper treatment and intaking supplements containing l-methylfolate.