The MTHFR Gene and Pregnancy
With the advent of inexpensive and easily accessible DNA testing opportunities for the general public thanks to companies like 23 and Me and Ancestry DNA, questions about various genes and their mutations have become familiar and commonly used. One such gene is called MTHFR, and it is of particular interest to women who are trying to conceive and women who are pregnant. This is what you need to know about the MTHFR gene and how it can impact pregnancy.
What is the MTHFR gene?
MTHFR is a gene that is also known as 5-methyltetrahydrofolate. We all carry two copies of MTHFR. The MTHFR gene is responsible for the breakdown of a vitamin called folic acid. The breakdown of folic acid creates folate. It is important that folic acid is broken down because if it is not, the body’s ability to have enough folate will be blocked. Just like any other gene, the DNA code of the MTHFR gene can vary.
What does the MTHFR gene have to do with pregnancy?
For women who have a MTHFR gene mutation, there is concern about hyperhomocysteinemia and its effects. Hyperhomocysteinemia happens when the homocysteine levels are elevated which is connected with the breakdown of folic acid. These high homocysteine levels can lead to pregnancy complications, particularly when these high levels are combined with low folic acid levels.
As FamilyEducation’s Genetics expert, Dana Bressette, succinctly explains, “The MTHFR gene breaks down folic acid into folate in the human body. If a pregnant woman has a mutated copy of this gene, her body cannot break down folic acid into folate. Folate is an important vitamin during pregnancy, as it can help prevent birth defects, mainly spina bifida.”
According to Healthline, pregnancy complications can also include:
- miscarriage
- preeclampsia
- birth defects
What do I need to know about pregnancy complications specifically associated with some of the MTHFR gene variants?
Anencephaly:
There is a small increased risk for anencephaly which is a neural tube defect. This kind of birth defect occurs during brain and spinal cord development. Babies with anencephaly are missing large parts of the brain. They also have missing and incompletely formed skull bones.
Spina Bifida:
Some studies also show an association between variants of the MTHFR gene and a small heightened risk of spina bifida. This is another common form of neural tube defect. Babies with spina bifida may have permanent nerve damage due to part of the spinal cord sticking out through an opening in the spine.
Preeclampsia:
This is a condition that specifically affects the mother during pregnancy. Preeclampsia causes high blood pressure throughout the pregnancy which can lead to complications.
