homozygous mthfr mutation factor

ICRN2008, BSN, RN · Oct 21, 2005

Here is a link from Babycenter:

http://bbs.babycenter.com/board/preconception/precongrief/1202012/thread/1291170

Hope it helps!

sharann, BSN, RN · Oct 21, 2005

Demand to speak to you physician not his "nurse". Find out exactly what it is. Also, I am truly sorry for your loss.

Liddle Noodnik · Oct 21, 2005

As some of you may recall, my baby boy was stillborn in June. He was full-term, beautiful... perfect looking. A cause was never determined. Today I received a call from my OBGYN's nurse stating that from the labs I had drawn in early Sept., I appear to have the blood clotting disorder mentioned above. I did some research online, but the terminology is so complicated I am having trouble understanding exactly what this is.
Do any of you have experience with this disorder? Have you heard of it causing a stillbirth before? Do you know what the treatment is? Are there any tests I should have my regular doctor perform? I am really afraid that I'm going to have a DVT or stroke now.
I realize that this is not a site for medical advice. I am just wondering if any of you have experienced it. I am going to see my OBGYN early in November, so I will discuss it with her further then, but I want to get a list of questions together first and with those complicated explanations, I don't even know what to ask!

I don't know about that dx, but I am so sorry for your loss nurse wannabe!

BittyBabyGrower, MSN, RN · Oct 21, 2005

They should have also referred you to genetics.

prmenrs, RN · Oct 21, 2005

I think you should request a consult w/a geneticist. Tape the conversation and/or have another person come w/you [and husband] to listen/take notes. There will be terms and words you don't understand and you may get overwhelmed during the visit. By having someone else there and taping the consult, you'll have the info to replay, digest, research further and replay again.

I am also very sorry for your loss, and I hope you are able to get the info you need.

wilsonmd71 · Oct 21, 2005

This is how I understand it. MTHFR stands for methylene tetra hydro folate reductase which is an enzyme that converts homocysteine to methionine. So if there is a mutation in the gene that makes MTHFR, homocysteine will not be converted but instead will build up in the blood. High levels of homocysteine have been linked to miscarriage and stillbirth, congenital heart defects and neural tube defects (think spina bifida). High levels of homocysteine in an adult has been linked to coronary artery disease from atherosclerosis. I got this information from the website http://www.fetal-medicine.com/MTHFR.htm

I just finished my Ob-Gyn clinical and spent a half day in maternal fetal medicine where I met a woman who was pregnant with twins and had tested positive for this same mutation. She was coming in for (I think) weekly fetal NON stress tests. So I had heard of MTHFR before and it caught my eye as I was perusing the topics.

I am so sorry that your baby died and I hope you can get some answers from your physician.

~Wilson

wilsonmd71 · Oct 21, 2005

I just reread your post and have more info to help clarify some things (as a disclaimer, I am no expert, so the information I am giving may be wrong, not that I would intentionally give out false information, but to allay any fears I have had several genetics classes - prior degree - and am in my senior year of nursing school). Being homozygous for something means that you inherited two copies of the mutated gene. One from mom and one from dad, b/c all of our cells carry two copies of chromosomes, 23 from mom, 23 from dad (except our sex cells which only carry 23). So you have inherited this defective MTHFR from your parents. Because both copies of the gene in your cells are affected, your body does not covert homocysteine to methionine well thus you probably have a high level of homocysteine.

Having a defective MTHFR is considered a thrombophilic disorder. Thrombo meaning clot and philic (philia) meaning tendency toward. So this disorder predisposes you to having a tendency toward clotting. If I recall, the pregnant mom mentioned in the above reply was on low dose anticoagulant (but don't quote me on this b/c I was looking at her chart and I could have mistaken pre pregnancy drugs for what she is on now.) But the good news is, is that she is pregnant and doing well and being monitored for complications and has the defective MTHFR. So it is doable. Now that you have been diagnosed with this you and your ob-gyn have more information and can better manage your health in any future pregnancy. I hope this has helped in some way and that you will be prepared for your appt in November.

~Wilson

prmenrs, RN · Oct 22, 2005

Thank you, Wilson, for your awesome post!!!

jkaee · Oct 22, 2005

Nursewannabe....I just wanted you to know the I was thinking about you just the other day. I hope that you are taking care of yourself, and know that I will continue to pray for you and your family.

Jennifer

nurse_wannabe · Oct 23, 2005

Yes, Wilson, that was a wonderful post. I really DO understand it so much better now! And I think you are correct about the anticoagulant. Thge nurse mentioned something about baby asprin for future pregnancies. Thank you!

Jkaee, thanks for thinking about me :)

You are all wonderful folks! And I will ask my doctor about seeing a geneticist.