MTHFR in Pregnancy: Risks, Diagnosis & Treatment

MTHFR Pregnancy – What Is It?

Pregnancy can be a tough time for some women, especially for those who have tested positive for a mutated MTHFR gene. All humans have the MTHFR gene in their bodies, it is known as gene 5-methyltetrahydrofolate and is responsible for breaking folic-acid to create folate. Less folate or malfunctioning of the MTHFR gene can result in some disorders or health conditions, more so in pregnancy. In case the gene is mutated, it can increase the chances of miscarriage, preeclampsia, or birth defects in babies.

What Is Meant By MTHFR?

MTHFR or gene 5-methyltetrahydrofolate is a gene which is responsible for breaking down of folic acid to folate. It is found in every human and is the cause of how the body processes folate. Folate in everyone is responsible for making their DNA, repairing the DNA and producing RBCs (Red Blood cells) in the body. In some people MTHFR gene malfunctions and stops or slows down the breaking of folic acid. This condition is known as mutated MTHFR gene. Having a mutated MTHFR is not an uncommon condition and is generally harmless in most people; however, in a few people, it can create certain health issues. People with positive MTHFR mutation gene have Hyperhomocysteinemia.

Hyperhomocysteinemia is the condition in the human body when the homocysteine levels are elevated. In women, high homocysteine levels with low folic acid levels may create complications in reproduction and lead to MTHFR mutation pregnancy. Women with mutated MTHFR gene may face issues in reproduction and may have a higher risk of preeclampsia, baby born with a certain birth defect such as spina bifida or miscarriage. Most females who have a problem in conceiving or repeated miscarriages or stillbirth come to know that they have mutated MTHFR gene. In some cases, females with mutated MTHFR gene can have successful pregnancies and may come to know of this condition much later or after suffering from a loss of their baby.

Risk Factors of Positive Mutated MTHFR

A mutated positive MTHFR gene is a genetic issue. It passes from the parents (mother or father) to the child. No one can have positive mutated MTHFR after birth, as a baby is born with it. Simply nothing causes positive MTHFR gene, it was always there. A person who has genetically inherited the positive mutated MTHFR from both parents may have more issues than a person who inherited it from one parent. However, having positive mutated MTHFR doesn’t mean one will have any health problem or issues. It just increases the risk of having health issues. A few of the risk factors of positive mutated MTHFR are:

  • Homocystinuria– It is a disorder where the body is able to process homocysteine at a lesser pace. This may result in eye problems, skeletal abnormalities, abnormal blood clotting, and cognitive problems.
  • Spina bifida– It is the incomplete formation or development of bones surrounding the spinal cord.
  • Anencephaly-It is a birth defect which is characterised by incompletely or missing formed parts in the skull or brain.
  • Hearing loss due to age.
  • Heart disease
  • Hypertension
  • Stroke
  • Preeclampsia or high blood pressure during pregnancy.
  • Psychiatric disorders
  • Glaucoma
  • Certain types of cancer

What Are the Complications of Positive MTHFR During Pregnancy?

MTHFR gene can have many different mutations. These mutations may cause various health problems and affect various organs such as the heart. Some of the mutations affect pregnancy more than the other mutations. Though there is no accurate scientific evidence which proves a positive mutated MTHFR gene can cause recurrent miscarriage; however, women who had suffered multiple miscarriages often test positive for mutated MTHFR gene.  A positive mutated MTHFR gene may several complications during pregnancy. A few of the complications caused by positive MTHFR during pregnancy are:

1. Spina Bifida

Spina bifida is a birth defect in a baby where the spinal cord is sticking out of the back. This creates nerve damage. Several children can have normal lives if the severity of the Spinal Bifida is low. Babies with high severity need full-time care.

2. Anencephaly

Anencephaly is a serious birth defect. Babies suffering from anencephaly are born with an underdeveloped brain or skull i.e. some parts of their brain or skull are missing. Babies suffering from this defect mostly don’t live past one week of their birth.

3. Preeclampsia

Preeclampsia is a health condition of high blood pressure in pregnant women.

4. Blood Clotting

A positive MTHFR mutation can cause blood clotting during pregnancy between the uterine wall and growing placenta. This area is known as ‘low flow maternal-placental interface’ and the blood clot prevents the nutrients to be transported to the baby. MTHFR blood clotting disorder can occur both during early or late in pregnancy. When occurring in early pregnancy, it can cause repeated miscarriage as the foetus is very vulnerable. When it occurs in advance pregnancy, it causes stillbirth as the blood clot is formed in the umbilical cord or placenta.

A MTHFR Pregnancy

Diagnosis of a Mutated MTHFR

A positive mutated MTHFR cannot be (and is) not tested in every pregnant woman. The test is expensive and the mutated MTHFR affects only a few women, so it is done only on the advice of the doctor. The doctor generally orders a test to detect mutated MTHFR in pregnant women who have had multiple miscarriages or had a family history of positive mutated MTHFR gene or the women who had genetic issues in their other pregnancies. The test done to determine positive mutated MTHFR involves the following testing methods:

  • The doctor may ask to check different variants of the MTHFR gene to check for positive MTHFR mutation through a blood test. The blood test is done to determine the homocysteine levels of a person.
  • Genetic testing is also done to identify the MTHFR gene mutation.
  • There are two gene variants which are most commonly tested. They are – C677T and A1298C.
  • A person having elevated homocysteine levels will have two C677T genes variant or one A1298C and one C6771 variant.
  • Any person with elevated homocysteine levels will not have two A1298C gene variants. Though it is possible to have high homocysteine levels with a negative MTHFR gene mutation test.

Treatment for Positive Mutated MTHFR

There are many treatments prescribed by doctors to treat positive mutated MTHFR gene. Most treatments help prevent blood clots and increase folic acid levels in the body. Some popular treatments for positive mutated MTHFR are:

1. Lovenox or Heparin Injections

These injections assist in preventing blood clots formation between the uterine wall and the developing placenta. Most doctors prescribe this treatment for pregnant women in their early pregnancy. This is because then the mutated MTHFR gene is not able to form a blood clot anytime during pregnancy. The doctor can only determine for how long the injections need to be continued.

2. Aspirin

Many pregnant women having mutated MTHFR gene often ask their doctors if they should take aspirin for MTHFR as Aspirin also works as a blood thinner. Aspirin may prevent blood clotting but it should be taken only after checking with a doctor.

3. Prenatal Vitamin with L-Methyl Folate

Anaemia is common in pregnant women. Pregnant women having mutated MTHFR gene generally have low folic acid. So MTHFR and folic acid are co-related. L- methyl folate helps in decreasing the anaemia risk in pregnant women. MTHFR prenatal vitamins are different than normal prenatal vitamins as pregnant women with mutated MTHFR gene process folic differently, so they need different prenatal vitamins with L-methyl folate rather than synthetic folic acid. So prenatal vitamins with L-methyl folate are prescribed instead of folic acids by some doctors.

Is MTHFR Linked to Miscarriage?

There are several opinions about MTHFR and pregnancy. Some people believe that positive MTHFR gene and miscarriages are directly linked and some believe there is no correlation. Though the increased number of miscarriages is often linked with positive MTHFR gene mutation as the women had C677T MTHFR gene. It is proved that women having C677T mutation cannot effectively recycle homocysteine which results in the accumulation of blood. Accumulation of blood results in homocysteinemia which poses a risk for coronary artery disease or formation of blood clots. Blood clots prevent nutrients transportation to the placenta, causing starvation of the foetus and eventually spontaneous abortion.

MTHFR gene mutation may seem scary especially for pregnant women. However, it can be managed with medications and proper treatment. Moreover, many females with positive MTHFR gene have had normal pregnancies. So there is no reason to panic. In case of any issues, talk to your doctor and she can determine the effects of MTHFR on your pregnancy. Timely diagnosis and prompt treatment can increase your chances of a successful pregnancy.

Also Read:

Placenta In Pregnancy
Eclampsia While Pregnant
Ectopic Pregnancy

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