Pregnancy Info HOME

Hi Erin: I do not, but from what little I know of this problem it sounds like it is some kind of enzyme deficiency that causes blood clots? Is that right? I assume your specialist will go over treatment options with you. I'm so glad they could get you in fast! Did your diagnosing doctor say that this could be treated with anything like a heparin and baby aspirin combo?

erin-

i have one mutation which means i'm a carrier but my husband has 2. MTHFR is a blood clotting disorder and I to have had four miscarriages the last of which happened at 18 weeks. I have been told that in my future pregnancies I would be put on a higher does of folic acid as well as blood thinners. In my case my husband will pass on the disorder no matter what and I have a 50 50 chance so if it turned out that I did pass it on MTHFR can cause blood clots to form around the baby or the placenta. I go to meet with the gentic counsler on the 30th so hopefully I will find out more.

I googled "MTHFR miscarriage" and got an article called "Ask a genetist". The woman had muliple m/c. She was asking about extra folic acid (above and beyond prenatals) to prevent micarriages. The genetist went on to explain how higher doses of folic acid and blood thinners have been used in woman who have MTHFR, but would not be increase positive outcome if she did not have this mutation. Also, was this test part of karyotyping? How did you find out you had this? I was not aware of this problem. I am always very curious about this type of stuff since I don't buy into the "really, really, bad luck" theory my doctor keeps throwing at me.

Here is the address to the article.
http://www.thetech.o
rg/genetics/ask.php?id=84
Her
e
is a portion of the article.
One such situation is if the mother has certain mutations in the MTHFR gene. People with this mutation need extra folic acid. Something called homocysteine builds up in their blood and they need folic acid to combat its effects.

One of the effects of increased homocysteine build up may be more lost pregnancies. One number I saw was that 21% of women with high homocysteine levels have recurrent pregnancy loss! But if this is true (and I haven't seen the hard data to confirm it), is it because of chromosomal abnormalities? Or something else?

Hard to say. There are a couple of ideas out there for how high homocysteine levels might affect a pregnancy. There is some evidence that clots form more easily in these women’s blood. Too much clotting can lead to problems like cystic hygromas which are known to affect pregnancies.

Another possible consequence of high homocysteine levels is chromosomal problems. DNA is often thought of as unchanging but it is actually pretty dynamic. While the A, G, C, and T’s rarely change, something called DNA methylation can change a lot.

DNA is decorated with little chemical groups called methyls. These methyl groups can affect whether a gene is turned on or off. They can also affect whether a chromosome goes to the right place when a cell divides.

The connection here is that high homocysteine levels decrease your pool of methyl groups. What this means is that there is less methyl around so your DNA might not get enough. What folic acid does is provide extra methyl groups to the pool.

It certainly looks like women with the MTHFR mutation have more babies with Down syndrome when they don’t get extra folic acid. But, is there a connection with other chromosomal problems?

No one knows for sure. In one study, researchers failed to find a connection between the MTHFR mutation you mention and any other trisomies except, possibly trisomy 18. However, the researchers couldn’t tell from that study whether the mothers had had enough extra folic acid in their diet to overcome their mutation.

I saw my test results and have what is called "compound C677T and A1298C heterozygous MTHFR mutation. This and Homozygous MTHFR are the one's that cause problems. 40% of the population has plain old heterozygous MTHFR mutation and it means nothing. The compound and the homozygous types are the dangerous ones. They also put you at risk for vascular diseases generally. You should take aspirin every day, pregnant or not. I found out by a special chromosome test, one of dozens I had done. I don't understand how I had my daughter, but it proves you can have a normal pregnancy without treatment. It was nine years ago, and perhaps my homocysteine levels were lower then, although I had a mc right before my daughter as well, so that is odd... Who knows. I did have a lot of (bright red) unexplained spotting during that whole pregnancy, maybe blood clots causing small parts of the placenta to break off, like tiny abruptions? Possible, I guess. Anyway, I feel like she is a huge miracle. I'm seeing a specialist on the 29th, so hopefully will know more then. Any pregnany to a MTHFR compound or homozygote is considered high risk. I'm not sure I can put myself though that. I have to do a lot of thinking. I'm 37 and would have to have CVS to rule out chromomal problems early, seeing as I have this.

May I ask what MTHFR is?

Rachel, read the the previous posts and it explains what is it. The girls did a good job with their research.

I am compound heterozygous, C677T and A1298C.

It is recommended that MTHFR patients need as much as 10 times the normal folic acid supplement. Not just during pregnancy, either, but every day to lower risk of all vascular disease. Also baby aspirin. I will see if the specialist backs this up next week. There is a prescription vitamin called Folgard which has all the folic acid and B6 and B12 needed by women positive for MTHFR.

I went to a hemotologist after being diagnosed with MTHFR (and after 3 miscarriages). The hemotologist tested my homocysteine levels and said that if they come back normal than the MTHFR is not a problem. If fact, she said more and more doctors are only testing for the homocysteine levels than the mutation becuase you can have the mutation and no complications such as high homocysteine levels. So my test came back with normal homocysteine levels and I was sent on my way. Then when I went back to my infertility doctor with that info she still wanted me on Folgard (folic acid, b12, b6) for a month before conceiving again. She said it is because the MTHFR gene is defective and what it usually does in convert folic acid into other nutrients that your body and the baby will need. When that gene is malfunctioning you don't get those nutrients needed. So by giving you the Folgard they are giving you a overload of what your body doesn't naturally do. She said high homocysteine levels are mute in this regard. That is a compication that will probably come later...for me at least....but not a problem right now. ANyway....I think any information is helpful in this frustrating situation and I hope it helps.

Hi Trish - I went to a specialist and she told me the same thing! Tested my homocystine levels (not back yet) and put me on Folex and baby aspirin. She said if homocystine levels aren't high, that isn't what caused my 4 miscarriages... She also ran a few more tests that my regular ob/gyn didn't. If they all come back normal, she says it's probably just bad luck.... She said no heperin unless homocystine is high.

I too have heterozygous mthfr mutation. have had 2 m/c. i am on high doses of vitb6, b12, and folic acid. i hope this will help for next time

A neighbor just informed me of a success story for compound hetero) MTHFR mutation (which is same risk as homozygous). Baby is now nine months old, heperin shots daily throughout pregnancy. Dr. says only two pregnancies for her though - due to being high risk.

Hi Erin, So when will you get your homocysteine level test back? If they come back normal will you go off the Folex? I don't know how you feel but I' really frustrated. Something is causing these miscarriages and doctors just don't know why. My fertility doctor still wants to continue me on the Folgard even though my homocysteine level is normal. She says it is because I don't process folate and B vitamins properly due to the MTHFR gene mutation BUT that doesn't make since to me. Actually what keeps your homocysteine levels down is folate and B vitamins. So if your homocysteine levels are normal that would mean that your body is processing enough folate and B vitamins. Anyway, I'm frustrated that the doctor is insisting on keeping me on the Folgard since it doesn't make any sense to do. Look forward to hearing your feedback! :-)

Hi Trish - I am definately going to stay on the Folex no matter what. I have read that homocystine levels can vary, and staying on the Folex keeps them on track all the time. THis is important due to general risk of vascular disease. Also, I actually feel better since taking it! I used to get very tired easily, but feel much better now. Don't know if it is just a coincidence...

Hi Erin, I do not think it is a coincidence. I feel the same way. Whenever I take folic acid +b6+b12 I feel more energy and do not get tired easily. So, keep taking those no matter what ....
I did read all your emails and I got some sense what is going on. I am also 37 years and got diagnosed with mthfr (2 compounds) 2 years ago.
I had my friends (not very close) over yesterday and I asked her if she is planning for a second one (she has a 6 years old girl) and she said that she recently had 2m/c-s and was diagnosed with mthfr. She did not have any m/c before her daughter was born. She did not take any Folic acid and B6/B12 before. The doctors now are offering her shots if she becomes pregnant. In my mind I was thinking it was a miracle that she had a girl. (Like in your case) Then I told her my story. (below)
My story is little different. I have a 5 years old son. I got diagnosed after I had a m/c only 2 years ago, BUT I had 6 m/c before my son was born. After 6 m/c-s I was so frustrated of hearing that nothing is wrong with me just a " bad luck "(all tests found nothing). I went to John Hopkins University Medical center back in year 2000. They told me that only 30% is known to the modern Medicine and they have no idea what is wrong with me since all my test were negative (at that time no one even was mentioning mthfr b/c I guess it was just discovered in late 1990-s and probably tests were not available at that time). But they instructed me to take baby aspirin + PROGESTERONE right before getting pregnant. So I did and a month later I started a healthy pregnancy (I had blood too during that pregnancy ). I gave a birth to a healthy boy (thanks God). At that time I was thinking I found a magic formula (progstoerone and baby aspirin) until I was ready for a second child. So it did not work for the second time and I had a m/c. That is when they did a test and found me positive for mthfr. (They offered me shots too.)

SO MY CONCLUSION IS THERE ARE COMBINATION OF FACTORS THAT ARE CAUSING M/C-S. MTHFR PLAYS A BIG ROLE BUT SOME OTHER THINGS ARE INVOLVED TOO WHICH WE DO NOT KNOW. Maybe progesterone supports placenta? maybe you need a right amount of folic acid and b6/b12, I do not know. But you can suggest your specialist the progesterone - it is better than shots...... I do not know now. I was thinking I found a magic formula for successful pregnancy but after a m/c while I was on it changed my thinking. Maybe it is combination of rest, right amount of progesterone, folic acid, b6 b12, aspirin and a strong fetus that can "survive"....... everybody's body id defferent too. THANKS. Apamb@novainternational.com