My first pregnancy (14 years ago) resulted in a pre-term birth at 28 weeks and I have had 2 miscarriages since. My husband and I have been trying to conceive for 14 months, to no avail. I recently learned that I have a gene mutation (MTHFR a1298c is homozygous). I'd like to know what impact that may have on my ability to conceive and carry to term? I'm also curious as to how it can affect my overall health. My current doctor has relocated and I'm in the process of finding a new one. In light of this new info, I'm curious if I should seek a specialist as well, I'm just not sure what kind of specialist would deal with this particular condition. Any help is appreciated!
"The A1298C gene variant is found in the MTHFR gene. This gene produces an enzyme that is important in the metabolism of homocysteine, an amino acid.
We all have two copies of the MTHFR gene, one from each parent. People with two copies of the A1289C gene variant are referred to as homozygous. Having two variants/mutations, such as A1298C, can cause elevated homocysteine levels.
MTHFR deficiency, in the presence of elevated homocysteine levels, has been associated with a variety of health issues including an increased risk for venous thromboembolism (the formation of a blood clot in a vein), early onset cardiovascular disease, and adverse pregnancy outcome including fetal growth restriction, preeclampsia, miscarriage and placental abruption. However, these risks may not be increased in the presence of normal homocysteine levels. A blood test can be performed that measures plasma homocysteine levels.
We recommend that you continue to follow-up with your physician. We may also benefit from meeting with a genetic counselor who can review your personal and family history as well as discuss the genetics and inheritance of MTHFR deficiency. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. We wish you the best."
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