If you have experienced a miscarriage - or recurrent miscarriage - it may be wise to ask for a MTHFR test before you plan to conceive again. There are two common types of mutation to the MTHFR gene and this article refers to the MTHFR C677T (Methlyenetetrahydrofolate reductace) type most commonly associated with recurrent miscarriage. The MTHFR gene mutation is the most common gene mutation which negatively affects blood clotting mechanisms, the mutation is known to affect approximately 5-10% (homozygous) of caucasians.
The incidence of MTHFR mutations may be substantially higher in infertile women especially those with recurrent losses. If you have a family history of arterial disease, venous thrombosis or thromboembolism or coronary artery disease to may have a higher risk of carrying the mutated gene.
You can carry the MTHFR gene mutation as a single copy (called heterozygous) inherited it from one parent or as a double copy (called homozygous) indicating that one copy was inherited from both parents. Having a double copy of the gene mutation is more likely to cause pregnancy loss but some experts believe that women with a single copy are at risk too also albeit at a lower level.
MTHFR is a key enzyme which is essential for the body to process and eliminate a toxic substance called homocysteine which if allowed to accumulate in the body is associated with recurrent loss, neural tube defects and still births.
People with the MTHFR gene mutation do not metabolize folic acid properly and therefore a main focus of treatment is large doses of extra folate. Aside from folic acid; vitamin B12 and vitamin B6 are also important for eliminating homocysteine and all are present in the prescription supplement Folgard RX 2.2 commonly prescribed to MTHFR positive women.
Folgard RX 2.2 provides 2.2 mg of folic acid, 25 mg of vitamin B6 and 500 mcg of vitamin B12 and is taken twice a day. Women with digestive disorders which may impact absorption may want to consider a sublingual source of these nutrients to ensure adequate intake.
If you have a homozygous (double) MTHFR gene mutation your homocysteine will likely be tested too, if it is high the extra folic acid and other nutrients will often bring levels down. Some experts feel that homocysteine should be retested during pregnancy as the various metabolic changes of pregnancy may cause levels to increase unchecked.
When a homozygous mutation is present anti-coagulant medications such a Lovenox are usually prescribed throughout pregnancy - or until the 34th week - to prevent miscarriage and pregnancy complications. For many women with MTHFR mutations this combination of Lovenox, folic acid and B vitamins has allowed them to break the chain of recurrent losses and have a full-term healthy baby.
This article is intended for informational purposes only and is not intended to diagnose or replace medical advice for which you should consult a suitably qualified physician.
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