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Writer's picture🧬MTHFR Coach Rhiannon

MTHFR and Pregnancy: Understanding the Connection


MTHFR (Methylenetetrahydrofolate Reductase) is a gene that is responsible for producing an enzyme that helps in the metabolism of folate (vitamin B9). Folate is important for many bodily processes, including the formation and maturation of red blood cells and the development of the nervous system. It is also critical in the early stages of pregnancy as it helps in the formation of the neural tube.


However, some individuals carry a genetic variation in the MTHFR gene, which can result in reduced activity of the MTHFR enzyme. This can lead to a buildup of homocysteine, an amino acid, in the bloodstream, which can increase the risk of certain health problems, including birth defects and pregnancy complications.


Here's what you need to know about MTHFR and pregnancy.


The connection between MTHFR and pregnancy

MTHFR and pregnancy are closely linked because folate plays a crucial role in fetal development, especially in the early stages of pregnancy. In fact, women who are pregnant or planning to conceive are often advised to take a daily supplement of folic acid to ensure an adequate supply of folate.

However, if a woman has the MTHFR gene variation, she may not be able to metabolize folic acid effectively. This can increase her risk of having a baby with a birth defect, such as a neural tube defect. Neural tube defects occur when the neural tube fails to close properly, leading to conditions such as spina bifida or anencephaly.


Additionally, women with the MTHFR gene variation are also at a higher risk of having a pregnancy affected by other complications, such as miscarriage, pre-eclampsia, and deep vein thrombosis.


Diagnosing MTHFR gene variation

To determine if a woman has the MTHFR gene variation, a blood test can be performed. This test measures the levels of homocysteine in the blood and can help determine if the MTHFR enzyme is functioning properly. If a woman has a genetic variation in the MTHFR gene, she may be advised to take a different form of folate, such as 5-MTHF, which can be metabolized more effectively.


Not sure if you have the variation, or know you have it but was to test other corresponding SNPs (genes)? Learn more about how the MTHFR Coach can support you with testing and the potential impacts on your overall health and wellness.


Treatment and prevention

If a woman has the MTHFR gene variation, she may be advised to take a supplement of 5-MTHF instead of folic acid. This form of folate can be metabolized more effectively and can help reduce the risk of pregnancy complications and birth defects.


In addition to taking supplements, women with the MTHFR gene variation may also be advised to make dietary changes, such as eating a diet rich in leafy greens, which are a good source of folate. It is also important for women with the MTHFR gene variation to avoid alcohol and tobacco, as these substances can further increase the risk of birth defects and pregnancy complications.


Finally, it is crucial for women who are pregnant or planning to conceive to discuss their MTHFR status with their healthcare provider. This will help ensure that they receive the proper care and treatment to reduce the risk of complications and ensure the health of both mother and baby.


In conclusion, MTHFR and pregnancy are closely linked, and women with the MTHFR gene variation are at a higher risk of having a baby with a birth defect or experiencing pregnancy complications. However, by taking the right form of folate, making dietary changes, and avoiding harmful substances, women with the MTHFR gene variation can reduce their risk and ensure a healthy pregnancy.

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