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Lorraine... Please ignore that. I'm terribly sorry. It was someone close to that name and the same terminology was used and all the anger she caused me came swelling back up again. Please forgive my mistake! I truly apologize to you and the ladies here.

I think you meant to say Babyonboard13. You must have read the Lorraine to Babyonboard and thought it was Lorraine that was writing it.

Hello. I have a question. I am compound heterzygous for the C677T and the A1298C MTHFR gene abnormalities. I posted a little background earlier in this forum. The Dr wants me to see a genetic counselor, a perinatalist and a cardiologist. Is this excessive? What does the genetic counselor do for you and did anyone else have to see a cardiologist? I have always had excellent blood pressure and I am physically fit. I know things can be going on inside that you can't see, I just wondered if any of you had to do this as well.

Hi Krista - have you had your homocystein levels done? The hetero compound can cause elevated homocysteine, which can affect the heart (less than the homozygous, but sill possible.) You dr is probably just covering all bases. I would get the full workup (I'm going to ask my primary care dr for same, just to be safe, even tho my homocysteine levels are normal.) It is also always good to get baseline tests done, so they have something to compare them to later. On the genetic counseling, it can't hurt. Has your husband been tested yet? That will help the genetic counseler give better advice, I would think. I'm still confused about what the implications would be if my husband tests positive for any mutations in MTHFR - he hasn't gotten the results yet. Best of luck to you!

Hi, KristaM, I am also compound heterozygous for 677T & A1298C. I think it's great that your doc wants you to investigate this further. My RE hasn't offered much other than take extra folic acid & let's jump in again! I have one frozen embryo left from my last IVF prior to pg & m/c. I'm curious to see what these other specialists have to say. Please keep us posted.

I can relate. I have a 9 year-old, but I have had 7mc's and lost my 6-day-old daughter. I have a balanced translocation which was found with a chromosome analysis. Recently I had more testing and found that I also have homozygous, an MTHRF mutation. Lucky for me I work for an infertility specialist. I am waiting for the rest of my blood results to come back before we discuss the next step. I was told that this mutation causes over clotting and can be corrected with daily injections after conception. Hang-in there, finding the problem is the hardest part.

Hello. This is getting more complicated by the minute. We had my husband tested and he has the same exact situation as I do, compound heterzygous for the C and the A. Now not only are we having my parents tested but we will have his parents tested. This testing will try to determine in both of us if we have one mutation on each chromosome or two mutations on onechromosome. Testing the parents will help tell. There may be some difference if the two mutations are on one chromosome or one on each. One way may be better than the other. My Dr. thinks the C and A on one chromosome is better than one on each since it leaves you with at least one chromosome that is fully functioning. He also thinks that in general the A problem has less effect than the C, but having both together of course is not so great. Which Dr. ordered the testing of your homocystene levels? My OB says the cardiologist does that but I am not sure that makes sense. Can the OB order this? I can not get in to see the cardiologist until March 2 and can't get into the parinatalist until April 21. This is taking forever!

Hi Krista - my RE ordered the homocysteine test. I think it makes sense to do b/c the hetero compound mutation doesn't always result in elevated homocysteine. My levels were normal, so my RE doesn't think that caused the MCs, altho she is keeping me on folic acid anyway. If yours aren't elevated, that may not be the cause. Since both you and your husband have the same mutation, I guess a genetic counselor could help determine any risk to the baby genetically. We are still waiting for my husband's results. I'm sorry you're going thru this and understand your frustration. It seems like all this should be so easy and, for me at least, it is so hard. I just keep worrying that I'll miscarry again. I'm considering IVF partly so the embryo can be genetically tested first. Best of luck - keep us informed.

KristenR: Thanks for responding. This may be an entirely ignorant question but what is an RE? What kind of Dr. is that? I am fairly new to all this terminology and the only Drs I have been referred to do not have those initials, so I'm lost. Thanks

Hi Krista - RE stands for Reproductive Endocrinologist. I believe that they work with all kinds of hormonal issues, but also tend to specialize in fertility. If you are seeing a fertility dr, s/he may be an RE.

Hi,
I was curious to see if anyone has any advice for me. This board is huge and I'd appreciate any input. I have m/c 4 times in 3 years. I have 1 healthy daughter. My last m/c in December revealed a chromosonally normal baby girl. The baby's h/b stopped at about 7 wks. I had previously been diagnosed with a Protein S dificiency and was taking baby asprin prior to conception and Lovenox upon the + HPT. Since this didn't work, I went back to my RE and she did more testing revealing that I am compound hetero MTHFR and she prescribed 4mg folic, b12 and b6, baby aspirin, lovenox when pg (and calcium supplement). Has anyone ever had these two combined? I just feel beat. I don't know if I can move forward or just let it go. I have also been referred to Dr. Collum in Chicago for immune testing. I was just looking for some insight if anyone could help. Thanks for reading.

Love and Prayers
Lesley

Hi Lesley~ I noticed that you posted a couple of days ago and didn't want you to think that your message had gone unread. I have one MTHFR mutation (A1298C). I am so sorry for your 4 mc's...I have had 2 in the past year myself. We are currently trying again, but I know what you mean about feeling beat. I feel emotionally drained, and I am constantly on a short fuse, which is not how I am at all. I would just say that the immune testing is a good idea. I have been tested for various autoimmune disorders, as well as diabetes, anticoagulant factors, etc. Many doctors are just beginning to understand MTHFR, so I say it's always best to rule out as many things as possible. Hang in there! Best of luck to you...keep us all posted. :)

Hi ladies. I am honored to be the first male writing on this forumn. You women are all so strong and I applaud you. My wife went to pick up our blood test results yesterday afternoon, and you guessed it...MTHFR. She is Hetero Compound and we have had 2 mc in the past 6 months. Our first mc we were not closely watched and tested so the doctors checked my wife's health and assumed the baby was healthy too. 4 months later during our FIRST ultrasound, we saw that the sac was empty. Chances are the sac was always empty and because of our lack of care, we just never knew about it (it was devistating, not to mention the day before my brother was married). So it was chalked up to Blighted Ovum and not looked into again. 2 months and a new Gyno later we were pregnant again. This time we were able to see the empty sac at 4 weeks. So my wife had her second D and C this past Dec. Although tough again, it's much better knowing at 4 weeks then at 4 months. So now we at least have hope for the cause and because of you ladies a "cure" for what's been going on. We go to the docs this Tuesday to get an explanation and better understanding of our results. Honestly...after the first bit of searching I did on the internet, I was very discouraged and 2 clicks away from throwing in the towel. You women are a God-send and I have a newfound hope for what lies ahead and the possibility of children. My wife and I are both 26 which easily proves this MTHFR does not discriminate by age. What should be some of the core questions we ask our doc this tuesday? Thanks in advance.

Amy Nog,
I also have A1298C and have had 2 m/c's. My original post here is above on January 6th. What precautions is your doctor taking with you? What meds are you on as you ttc? I'm taking Primacare prenatal vitamins and a complex B vitamin.

Hello to all, my daughter is pregnant with her third, with no m/c, but I have had several, so I have been there. Back to my daughter. She found out at the age of 21 that she has a rare form of closed spina bifida, then right after found out she was preg with baby #2, With baby #1 she had severe eclampsia but a good outcome for both. With baby #2 severe eclampsia and gestational diabetes, and during labor, a complete placental abruption, but thank god, I refused to take, "this is all ok" from the staff ( I do have six kids, used to work in labor and del, and I am also an EMT), so I thru a major natural redhead fit, and we got the baby delivered right away, but he will be in April and is still having respiratory issues. Back to baby #1, M developed some blood clots from the iv's etc's but the doc's didn't think much about it. then with #2 she had even more and some between the pregnancies. As much as I love grandchildren, I begged M not to have any more, that her boys need her and I know how hard it is to have a m/c and never want to see her go thru that. But she developed more blood clots while on the birth control patch and was taken off it and immediately became preg again. This time they have sent her to a high risk specialist, and he in turn is also having her seen by the "premier" profss at Ohio State Univ. He did all of this blood work among others, and he told her she has this issue. But my concern is in that, #1, he is old and very busy, so does he really keep up to date with improvements in treatments like he shoudl? #2, because he told her the "only cure for this was to take her prenantal vitamins and pray" I was there, those were the exact words he used. As an Emt and a knowledge searcher, it seems to me that she should be doing what you are doing, baby aspirin, heparin, etc. What should I do? And to the newer lady who is needle phobic, as am I, don't let any one convince you otherwise, heparin hurts, and only you can decide how much pain you are willing to put yourself thru to "have a homegrown" child, as I call birth children. I also have adopted children, and while it isn't for some, know that you only substitute one form of pain for another. My prayers are with all of you. My first preg was a m/c and I about had a nervous breakdown over it. Myworst one was an unexpected preg that I wasn't too thrilled about that day, I was soooo sick, Had five kids, marital issues, etc, and then I had a miscarriage that night. The guilt about killed me, litterally! To this day, there is a part of me that still believes that my stress at the suprise of it that day willed it to happened and I should be allowed to live because of it. But I was blessed with a beautiful healthy baby girl a year later, after the absolute pregnancy and delivery from hell. GIrls luck ladies, and one more thing, sorry, age doestn't have crap to do with it, my daughter is 23.

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.