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Hi Nate, I'm really sorry to hear about your losses. I would ask your doctor to have your wife's homocysteine levels taken. If she has elevated levels, this could be a cause of the mcs. If not, they may tell her what I was told, that the MTHFR mutations were not the cause. I'm not sure I believe that and there is much controversy among Drs about it. But in any event, she should probably take folic acid and possibly heparin during the next pregnancy (that, at least, most seem to agree on). I would also make sure that they test you too. If you have one or more mutation yourself, this could affect the baby's DNA and therefore its viability. Sorry to sound clinical about it, but in cases like these I think knowledge is our best bet - all of us. I wish there was more known about this and whatever factors probably interact with it. We are still waiting for my husband's genetic test results. We may go to IVF b/c of the prenatal genetic testing. When we end up getting pregnant again, assuming we do, I'll be taking folic acid and heparin shots. Best of luck to you both and please let us know what you find out at the doctor's office on Tuesday.

Hi Kristine~ I am sorry for your two mc's. Mine occurred at 7 weeks and then 9 weeks. I am now on Folgard, which is a combo of folic acid, vitamin B6 and B12. I am also taking a baby aspirin each day (although I know many doctors don't recommend this until a positive preg. test). Like you, I tested negative for Factor V, and I was tested for Factor II (neg. also). Who knows...this is all so confusing. The doctors told me that my single mutation most likely is not the cause, but I meet more and more people like you and I who have miscarried. I am 33...and although my doctor seems to think I am still 'young', this whole process is wearing me out. I hope that this helps you somewhat. Keep me posted. :) Best of luck to you.

Amy....Wow! We are very similar. My m/c's were at 6 and 7 weeks. My doctor told me not to take baby aspirin until I got a positive test . She also said I am still young..... 33 like you!! Well I don't feel it. I feel like I am very behind with starting a family. Also, two doctors told me the single mutation may not be the cause. In a way, I am grateful that I do not have some of the complex medical issues that many of these women post but what is causing me to lose the pregnancies? No one has an exact answer. I guess it is in a higher power's hands so to speak. Good luck as well xo

Hi, everyone - this is such a great discussion about this very confusing disorder. My sister tested positive for compound heterozygous MTHFR, and I recently had my blood tested and found out that I also have it or something similar. I'm not sure yet since the nurse just called me and said I should have a consultation with my doctor to find out more information about the results, which I couldn't schedule until 3/15. Anyway, neither my sister nor I have started trying to get pregnant, but since I am 33, my husband and plan to start around june this year. My question is about other symptoms that exist withthis disorder, My sister said that her doctor told her that it caused other problems, like headaches and exhaustion, and I was wondering if any of you had anything else to add. I have a lot of headaches and frequently feel tired, so I am hoping that maybe all that has something to do with the MTHFR and can be treated. I am already taking folic acid (have been for at least a year in preparation for pregnancy, anyway), but i would appreciate any other advice. Thanks!

Hi everyone. My name is Cheryl and I'm 36. I echo that this is the first place I've found with real info on MTHFR. I just found out, after two miscarriages, that I have the homozygous MTHFR. My genetic counselor advised me to take 4mg of folic acid and baby aspirin. He advised me against Heparin, since I have no history of blood clots and have had two healthy, full-term pregnancies before I started miscarrying. I'm looking for advice from you on a few things: I have not had my homocystein tested yet. Who orders that test? Can I go to my primary?? Also, I haven't been taking any extra B vitamins just the extra folic. I'm interested in Folgard and Folex from this board, but it doesn't seem to have 4mg. Are you ladies taking it several times a day?? And finally, considering I have the homozygous mutation, should I go straight to the perinatalogist instead of my OB?? Thanks in advance.

Erin. My sister has this and it caused her to lose a baby when she was 5 1/2 months pregnant. The hardest thing ever to witness. She went on to have a healthy child a little over a year later and everything was fine. She did have to take Lovenox injections starting around her 3rd month and continuing until she gave birth. YOU CAN NOT AND I REPEAT CANNOT TAKE BIRTH CONTROL PILLS after being diagnosed with MTHFR!! It is a blood clotting disorder and can cause a stroke or heart attack at a young age, and please don't smoke either. This is a very serious disease and should be treated as so. Good Luck.

Annie, I am so sorry for your sisters loss. MTHFR is a gene that everyone has. Problems come when there are mutations on it. I am now sure of only one thing, that this has to be far more complicated than it appears. From what I have read above, people can have the mutation but it is causing different things to go on in different women. Most are taking extra folate/b12/b6 but the mg needs can vary. Some are only taking aspirin while others take injections for the blood clotting component. Does everyone have this blood clotting part? I just had my homocystine levels checked, I'm still waiting for the results. I have the compound heterozygous (the C and the A) mutation scenario and I believe it may have contributed to my 2 miscarriages in some way. Finding out as much as we can may narrow down how. Is it my homocysteine levels, is it the blood clotting factor that has been mentioned, could it be the fact that my husband has the double mutation as well? Trying to understand this, if it is my H levels, why could I have 4 children and then start having miscarriages. It could be the way the mutations are placed on the chromosomes. My double mutation could be on one chromosome leaving the other one fine. My husband, having the double mutation could have them both on one chromosome as well. I want to know how viable a baby would be if they got my double bad chromosome and his double bad chromosome from this gene. We are getting tests done on our parents to see if we can tell where the mutations fall on the chromosomes. We either have one mutation on each chromosome or two on one. Could this alone could have caused the miscarriages or homocystien or, or, or. Testing, testing, testing. We will meet with Dr.s that will attempt to tell us the answers. Hope to all of you.

Hello all. Well my wife is off to the doctor's office now to discuss the meanings of our results. Compound Hetero for C&A as a recap. I'm anticipating him wanted to have me tested and in the meanwhile putting my wife on some of the things yall are on. I have a question to you ladies that have been blessed enough to have had children before/during/after finding out you have had MTHFR... Due to the fact that this is new and there hasn't really been any concrete studies on the children, have you noticed any development issues with your kids or do they seem to be as "normal" as the next family that doesn't have the mutated genes? I mean granted, many of you have stated that you've had 1+ children at one time or another and they have been "healthy" (which is all that I can ask for), but what if anything is there to say about how MTHFR has effected a childs early-late developments? Honestly if my wife and I can make it through a healthy pregnancy and birth, I will be overjoyed and greatful. But this might be good information to prepare those of us that haven't had children yet so that we can be better prepared. Any information would be appreciated as usual.

Hi Krista - I think you've summed up the complexity well. Those with the homozygous mutations have more to worry about on their own health than heterzygous. In either case, the levels of homocysteine can be high, though. I wonder if these fluctuate regularly or increase with age? If homocysteine was the cause of your miscarriages, that would be an important question to have answered. If the problem was the baby's own DNA and not your own homocysteine/folic acid levels, then that's is another difficulty to overcome. I'm in the same boat, but know my homocysteine levels are normal (at least on the day I was tested), but don't know my husbands genetic test results yet. I wonder if we both have mutations if that could be passing enough problems onto the fetus to cause it to miscarry. I'd be very interested in what you learn as you continue. I don't have any kids, but otherwise we have similar situations. I'm heading in for another IUI this weekend. We're considering IVF if that doesn't work, but I'm terrified of going through all that only to miscarry again. Good luck, all, and don't loose heart!

Kristine~ We are very similar! Let's hope that 33 is the magic number. Well actually, at this point I would be 34 by the time I have a baby. I do know what you mean about feeling a bit behind...and this just adds to my angst. And every miscarriage just puts me behind another 3 months or so. However, I guess we can't think like that. There is hope for all of us here...we just have to keep persevering! :)

Nate ~ First I want to say kudos to you for sticking yourself out there and posting to all of us ladies. I want to respond to your entry from earlier today. I am a special education teacher working toward a doctorate (not a medical doctor in the least). However, I have seen and worked with many children who have Trisomy 9, Trisomy 18 and Trisomy 21 (commonly called Down's Syndrome). My second miscarriage resulted in a baby who had trisomy 22. I am positive for the A1298C MTHFR mutation; my husband's DNA is normal. I was at first concerned that the trisomy 22 was caused by my MTHFR, but our specialist told me otherwise. He chalks this up to a fluke, and although it is scary - we will keep trying. I have learned though that increased cases of spina bifida are linked to people with both the A and C mutations. I am sure that ladies here who do have children (I don't yet) can attest to the fact that there are many 'typically developing' children out there. I hope that this helps you even just a little bit. Best of luck to you and your wife...please keep us posted about your results. :)Amy Noggle

Hi all - I am the one who initiated this thread. I am happy to report that I am now almost 14 weeks pregnant. I have had several diagnostic ultrasounds and blood tests and all looks good. I am under the care of the Maternal Fetal Medicine Practice at New York University and they know their stuff. My homocystine levels turned out to be extremely normal. Nevertheless I have been taking FOLTX and a baby aspirin every day sinc two weeks prior to conception. They are against giving me heperin and lovenex. Although they are keeping an eye on the MTHFR mutation (compound hetero A&C), they really do not feel that this has been the cause miscarriages (two blighted ova nine years apart, an ectopic and what appears to have been another due to a chromosomal problem), and I am beginning to think maybe they are right... Anyway, I have a nine year old daughter who is not only perfectly normal, but exceedingly bright and very pretty! She has absolutely no developmental problems, so don't worry. I stopped taking regular over the counter folic acid with her at three months, and had no problems. All blood work came back as VERY low risk (1:18,000) for genetic abnormalities/neural tube defects. I must have had the MTHFR mutation then, and for whatever reason, it did not effect that pregnacy. I will never know if it caused the others losses. I doubt the ectopic had anything to do with it. I am 37 now, and my age may have played apart. I had my homocystine levels checked several weeks after my mc at 10 weeks (baby stopped developing at 8 weeks) and they were smack in the middle of the normal range, so I would be surprised if they were significantly higher just a few weeks before. I have also smoked and took the pill for many years.... I guess I am lucky not to have had any clotting problems. Although I am not really sure how much MTHFR has had to do with my losses (I wish I could say it was THE ANSWER, and now I could rest easy), but I am glad to know about it and will take FOLTX for the rest of my life, and maybe the baby aspirin as well, to avoid a rise in homocystine levels. Here is the important thing to remember: if you are taking enough Folic Acid and B Vitamins, your homocystine levels will be NORMAL. If they are NORMAL, you will not develop BLOOD CLOTS. Baby aspirin is a nice insurance for that. Whether or not MTHFR mutations passed on to the embryo can cause mc is an entirely different matter, and one that specialists don't really seem to know that much about. It will be interesting to see what develops in the research in the next few years. All of this MTHFR stuff only came to light when they mapped the human genome.

"Both the lower folate and increased homocysteine concentrations associated with CT and TT genotypes can be corrected by folic acid, even in relatively small doses. Therefore, our study provides new data underscoring the importance of public health intervention programmes of folic acid supplementation and food fortification targeted at all women of childbearing age to prevent neural tube defects. Such intervention may also turn out to have other public health benefits—for example, in the prevention of cardiovascular disease. "

FROM: http://bmj.bmjjournals.com/cgi
/content/full/328/7455/1535

And for all you compound heterozygotes out there: http://www.phd.msu.edu/DNA/mthfr_fact.html

So take your FOLTX or FOLGARD and relax. Feel lucky that this may be the cause and that Folic Acid really is an easy fix. It's like the progesterone deficient women (I used to envy them their luteal phase defects - easy to idenitfy and easy to treat!). Imagine having something that was harder to treat or impossible! Good luck to all!!!!

Also, I know a woman who had a baby diagnosed with a neural tube defect in the first trimester (she said they can pick it up quite easily on ultrasound most of the time). She was not checked for the MTHFR mutation (although she should be!). But, she is now 20 weeks pregnant and had her level 2 ultrasound and all is fine. The doctors put her on FOLTX the day she found out she was pregnant. She is not having an amnio. She terminated the last pregnancy and does not want to risk another loss, as all the blood and ultrasounds look good this time. She also had two healthy pregnancies 10 and 7 years ago, no mc's. It will be interesting to see if she has MTHFR. And if she doesn't, why the NTD?

Hi Erin - Congratulations!!! I'm thrilled for you. Your success can give us all hope. Thanks for updating us on where you are. Please keep us posted - it is great to hear about a happy story! And thanks for the links and info.