Prenatal care is preventive care for an expectant mother and her unborn baby. A big part of the preventive care at the beginning of the pregnancy involves various tests to determine whether or not the mother and/or the fetus have any health issues that could be life-threatening. Sometimes, these tests result in the mother discovering a medical condition that she hasn't yet been diagnosed with.
That condition is called an MTHFR gene mutation. Here's what that means and what to expect when you're expecting and are unexpectedly diagnosed with an MTHFR gene mutation.
What is the MTHFR gene and why is it harmful to pregnancies?
MTHFR stands for methylenetetrahydrofolate reductase. It's responsible for methylation and the body's ability to process folic acid to make folate, which is necessary in the development of a healthy baby. Folic acid helps prevent major birth defects involving the spine and brain, which is why it's included in prenatal vitamin formulations.
But, if you have an MTHFR gene mutation, your body is unable to process folic acid and, therefore, there are specific precautions you'll need to take during your pregnancy. It can also cause preeclampsia, which is a blood clotting disorder during pregnancy that can cause high blood pressure that comes on suddenly and can lead to premature birth.
Who gets tested for an MTHFR gene mutation during pregnancy?
Typically, this is not a test that is done on everyone who is pregnant. It is, however, usually done when someone has had multiple miscarriages or has given birth to a child with the possible birth defects caused by a lack of folic acid.
It's also given to pregnant women who have a history of medical conditions or symptoms that may be explained as resulting from an undiagnosed MTHFR gene mutation. Testing is performed from a blood sample taken from the vein.
What happens if your MTHFR gene mutation test is positive?
You can still have a healthy pregnancy, but you will need to be extremely vigilant with your health. If your MTHFR test result is positive for a gene mutation, you will need to be sure you schedule and keep all prenatal care appointments. Depending on your personal medical history, you may need to visit your provider for prenatal care more frequently than a typical pregnancy.
You will likely be given injections to prevent the formation of blood clots and special prenatal vitamins that contain L-methylfolate instead of folic acid. You may be referred to a nutritionist to help you in nourishing your and your baby's bodies during your pregnancy.
If you are pregnant, talk to a prenatal care doctor about your health.