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Do MTHFR Mutations Come With Any Pregnancy Complications?

Last updated on June 29, 2018

There are several different types of mutations that can take place with this particular gene. Some of them can greatly affect pregnancy more than other. Mutations also affect some other body systems as well such as the heart and brain. There is currently no scientific reason that these MTHFR mutation genes lead to recurrent pregnancy loss, but all those women who have had several miscarriages generally test positive for the MTHFR mutation gene.

Pregnant women who are MTHFR mutation genes positive may suffer several complications during their pregnancy. These may include:

  • Preeclampsia – This is a condition that leads to High Blood pressure during pregnancy
  • Anencephaly – This happens to be a serious birth defect where the baby is born without parts of skull or brain. Most of such babies do not live more than a week.
  • Spina Bifida – This is another birth defect where the infant is born with a spinal cord stuck out onto the baby’s back, causing nerve damage. Depending on the severity of Spina Bifida, some of the babies get to have a normal life, whereas others require full-time assistance.

Why Testing For MTHFR Mutation is Crucial

It is not really a standard protocol to test all pregnant women for the existence of MTHFR mutation genes. It can be quite expensive to do so, and insurance does not really cover it. However, your doctor may ask you to get these tests done if you have:

  • A family history of MTHFR mutated gene
  • Several miscarriages
  • Genetic issues with another pregnancy

The results of these tests are generally available in 1 to 2 weeks.

To check for MTHFR mutation, several variants of the MTHFR genes are assessed. The two most commonly tested genes variants are known as A1298C and C677T. If an individual has both these variants, the tests generally indicate elevated levels of homocysteine.

On the other hand, the two A1298C gene variants generally are not related to higher homocysteine levels. It is possible to be negative on MTHFR mutation genes test and still have elevated homocysteine levels.


Screening for MTHFR mutation genes is strongly recommended for every pregnant woman. Despite the fact that many women go through normal pregnancies, even if they test positive for MTHFR mutation gene, many researches connect the high incidence of Autism with unmetabolized folic acid due to MTHFR mutation. Therefore, you perhaps need to be tested for this gene if you are pregnant or planning to get pregnant.