The gene 5-methyltetrahydrofolate is found in every individual. It’s also known as MTHFR.
The function of MTHFR is to break down folic acid, which results in folate. Folate insufficiency or a defective MTHFR gene can lead to various health issues and abnormalities.
Women whose test is positive for a MTHFR gene during pregnancy are at an increased risk of miscarriage, preeclampsia, or having a baby with congenital disabilities such as spina bifida.
Here’s what you need to know about getting tested for this gene and how it might affect your pregnancy.
What does the MTHFR gene do, and why is it important?
Hyperhomocysteinemia is an illness in which the homocysteine levels are high. People who have a positive MTHFR mutation gene test often have hyperhomocysteinemia. High homocysteine levels, especially in the presence of low folate levels, might lead to pregnancy problems, including:
- congenital disabilities
Folate is needed for:
- making DNA
- repairing DNA
- producing red blood cells (RBCs)
When the MTHFR gene is damaged, folic acid isn’t broken down. A mutated MTHFR gene is what I’m talking about. It’s not uncommon to have a faulty gene. According to the Genetic and Rare Diseases Information Center, in the United States, between 25% and 15% of Hispanics and whites have this variation.
MTHFR gene variants and their associated risk factors
The MTHFR gene is inherited from the parents to their children. There’s nothing that causes you to have a mutated MTHFR gene. It’s passed down through your mother and father to you.
Might be danger, if you have any from them:
- recurrent miscarriages
- A newborn with a neural tube defect, such as spina bifida or anencephaly.
- history of preeclampsia
What are the MTHFR mutation’s potential risks and side effects?
Here are some types of changes that this gene can undergo. Some of them have the potential to influence pregnancy more than others. Mutations may also affect various bodily processes, such as the heart.
Positive MTHFR mutated genes in pregnant women can lead to pregnancy difficulties. These are some of the possible complications:
- Spina bifida. This is a condition in which the spinal cord protrudes from the child’s back, causing nerve damage. Some children with spina bifida have everyday lives, while others require full-time care.
- Anencephaly. This is a severe congenital disability in which a baby comes out of the womb with portions of their brain or skull. The majority of babies die within one week after delivery.
- Preeclampsia. Blood pressure during pregnancy is extremely high in women with preeclampsia.
While testing for the presence of a mutated MTHFR gene is not typical practice, it may be cost effective, and insurance does not always cover it. However, if you satisfy any of the conditions above, your doctor might request this test:
- I’ve had numerous miscarriages throughout my life.
- MTHFR gene mutations are hereditary in your family.
- Another pregnancy is problematic, however, due to their genetic problems.
Typically, results are available in one to two weeks.
The MTHFR gene is examined as part of the standard genetic testing process. The MTHFR gene has two variants, C677T and A1298C, among the most frequent. The test frequently reveals high homocysteine levels if a person has two C677T gene variants, a C6771 gene, and one A1298C gene.
However, two A1298C gene variants are rarely linked to high homocysteine levels. It’s feasible to have a poor MTHFR gene test and have elevated homocysteine levels.
There are several MTHFR gene therapy options that are beneficial.
There has been no cure found for MTHFR gene mutations. However, many specialists will prescribe medication to aid in preventing blood clots or boost folic acid levels.
Your doctor may advise the following treatments:
- Injections of Lovenox or heparin might be used to treat this condition. The subsequent blood clots can block the developing placenta and prevent it from absorbing nutrients properly. Many women who receive this therapy start early in pregnancy.
- Aspirin (81 mg). There’s no evidence that it’s effective, but it does help with blood clot formation.
- Prenatal vitamin with L-methyl folate. Instead of folic acid, your doctor may give you this vitamin during pregnancy. In some studies, L-methyl folate has been found to lower the incidence of anemia in pregnant women.
The lesson to be learned
MTHFR mutation testing isn’t advised for every pregnant woman. Even if a woman tests positive for the MTHFR gene defect, many have healthy pregnancies. If you have had three or more miscarriages, you may be required to get a genetic test if you have a newborn with neural tube defects. Discuss your worries with your doctor.