Hello again, here i am again, 26, 3 m/c's in last year. I test pos. for anthphosphlipid IGg and MTHFR gene mutation. Dh and my chromosomes are normal, as is my progesterone level. I saw a specialist today who told me he thinks i may have a uterine abnormality and need to have a HSG to diagnose. Then saw my normal OB today who said that uterine abnormality is unlikely b/c i have had MISSED m/c's, which would indicate a problem with the fetus, not my uterus. He said if i actually had a m/c where my body gets rid of it, that diagnosis would be more likely but he dosen't think so. I'm so cconfused! Which doc do i trust? I have a lot of faith in my OB but think the specialist must know what he's talking about. Also, we have been ttc for last 4 wks. and u/s today showed that i just ovulated a few days ago so i may already be pregnant, which would mean i couldn't do the HSG anyway, but would just give me more stress of another m/c due to possible uterine abnormality. Any one with any advice or help? I'm so desperate! Thanks!
Hi,im so sorry for what your going through,ive had 2 missed miscarriages,both at 7 weeks,i seen the heartbeat though,i was sent for cytogenetics and everything was clear,i found out i was 4 weeks pregnant on valentines day and was put on aspirin and progesterone pessarys,i am now 15 weeks pregnant so please dont give up,i thought it would never happen for me.
A good friend of mine has MTHFR and was told she is at high risk for m/c, although she's only had one and has a healthy 2 year old and a healthy baby on the way (27 weeks). Anyhow, they told her that b/c of the MTHFR, her baby is at high risk for having chromosome abnormalities causing m/c, downs, etc.
I have a unicornate uterus (1/2 uterus) and have had at least 2 m/c (although doctor suspects many more...and at least one was caused by progesterone deficiency) and have a healthy 2 year old and 7 month old.
I can't believe how similar our cases are! here is my status to far and what my specialists have said:
34 years old and have had 3 MC, ALL were missed pregnancies and the last one was 2 weeks ago. In NONE of them a fetal pole or a heartbeat was seen and all the MCs were in the 6 weeks range. My regular docof 1 yr, said it was nothing and gave me a TORCH test, but that was cleared - no other tests other than sperm analysis on DH. I went to another doctor who did an internal examination found a HUGE FIBROID measureing 7cmx6cmx6cm.
Now i saw a new set of specialists and they said that the fibroid was indenting the uterine cavity changing it from a triangular shape (pointing downwards) to a heart shape with the fibroind right on top. However, they have asked me to wait 3 months and have the HSG done based on which i will know if i need an operation to have it removed or not.
You're going to have to scan my posts - i think it was called "What the heck is wrong with me" where a very lovely lady has mentioned a series of tests for re-occurant miscarriages. This really helped me because i was fighting back with my doctors.
you're right, my doctors also said the same thing to me that the problem was that there was no fetal pole or heartbeat, not that I'm just miscarrying - so there is something wrong with the fetus that is making the body attack it and cause the MC.
Good luck and I'd really want to know what your doctors said because it will really help me out with mine in the other half of the world (sameerah.***@****)
I posted to you on the infertility board. I was dx with a uterine abnormality (medical term is Mullerian Anomoly) after recurrent m/c....the first being a missed m/c at 8 weeks (we had seen a healthy heartbeat at 6.5 weeks). I encourage you to continue investigating with the specialist. My regular OB just chalked up the m/c's to "just one of those things" and to keep on trying. However, within a week of seeing a RE, I had a saline ultrasound that showed I have a septated uterus. Basically, the embryos were implanting (most likely) on the septum which is not vascular enough to provide ongoing nutrition to the baby, hence m/c. I had a very,very simple surgery to remove the septum. Now, m/c rate dropped from 80-90% chance of m/c to that of a normal person. Recurrent m/c are so traumatic and I am so sorry that you are going through this. Please read my other comments on the infertility board regarding your question yesterday. I am sending you the best thoughts and will keep you in my prayers.
PS. Many, many people with uterine abnormalities go on to have successful pregnancies. It is not the end of ttc!
Okay, I did some more research and found an interesting site (which I lifted this info from) that you can go check out.
"First, with MTHFR, there are two different kinds of mutations, as you've said, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous." Here's my understanding of the distinctions. The most severe MTHFR problems occur with homozygous C677T, meaning two copies of the "C" mutation. Next most serious is compound hetero, which means one copy of the "A" mutation and one copy of the "C" mutation. Next most serious is one "C" mutation. After that, it's two "A" mutations. The least serious is a single "A" mutation.
Doctors disagree on the significance of the "A" mutations, but as far as I can tell, there is universal agreement about the "C" mutations as being a potentially serious problem.
Any and all of these mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause trouble. Many other MTHFR patients have normal homocysteine levels, yet have had implantation problems and/or m/c's due to clotting problems. So it is important to find out your homocysteine levels (although again, normal doesn't necessarily mean all is well). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise."
My understanding is that the heparin is a good choice for dealing with your diagnosis.
I am not much help with your other problem other than the info I gave already. It does seem, though, that there is usually something other than MTHFR going on so it is important to make sure you've been tested for all of the immune disorders. My problem is that I have a protein s deficiency (I clot) so I have plenty of info for that (but that doesn't help you much). ;-)
You can check this site http://repro-med.net/info/cat.php to see if there are any further tests you should take.
JW, so sorry about the miscarriages. They are not something that I would wish on anyone! I am also sorry that you are getting such conflicting information from your doctors.
I can give you a little info on what you have been diagnosed with so far, so maybe that will help arm you as you fight with/figure out your doctors.
1) MTHFR (Methylene-Tetra-Hydro-Folate-Reductase) mutations- it is important that you find out which category of this mutation you fall under. This mutation could be either
a) heterozygous (there are two parts to this gene, and each part has two parts, so there is a possiblity of 4 places for mutations. Heterozygous means you have one mutation on one part of the gene. This is the most common and impacts you the least),
b) compound heterozygous (this would be one mutation on each part for a total of two mutations. This would be a little more serious, but still easily fixable), and
c) homozygous (this is when you have both mutations on one part. This is the most serious of the mutations,)
Heterozygous MTHFR is fairly common in caucasion populations is the lessr of the mutations. Compound heterozygous and homozygous MTHFR have definitely neem linked to implantation failure, late term miscarriages and overall vascular health. Also anything dealing with birth defects that lack of folic acid can cause (maybe why the baby has begun to develop and then stopped?). It should not be 'discounted'.
Essentially what this means is that the genes that instruct MTHFR to convert homocysteine to Methionine are mutated and may not be capable of doing this important function. MTHFR is an enzyme that converts homocysteine to an essential amino acid (methionine). When the genes are mutated you may be lacking this enzyme. Your homocysteine levels can possibly climb making the blood clot.
Many doctors prescribe folgard which is high levels of folic acid, b12 and b6. These vitamins are what the body essentially needs to convert homocyteine to methionine.
To put this into perspective, the average prenatal has 800mcgs of folic acid (200%) of the normal daily value. I am compount heterozygous, and I am required to take 5mgs of folic acid/b vitamins (6 times more than the prenatals have in them plus the prenatal!)
a) Antiphospholipid syndrome (APS) is a recently recognized autoimmune condition that may manifest with fetal loss, thrombosis, or autoimmune thrombocytopenia. Women with these clinical features should be tested for lupus anticoagulant (LAC) and anticardiolipin (aCL) antibodies; most patients with APS have both LAC and aCL immunoglobulin G (IgG) antibodies. The diagnosis of APS requires the presence of both clinical and biological features.
b) In the US: SLE occurs in approximately 120 cases per 100,000 population and causes pregnancy complications in approximately 45 cases per 100,000 pregnant population.
c) APS increases the risk for maternal and fetal morbidity and fetal mortality in pregnancy. The rate of fetal loss may exceed 90% in untreated patients who have APS. Therapy (including aspirin and heparin) can reduce the rate of fetal loss to 25%, as described by Cowchock et al.
d) APS is also associated with infertility and pregnancy complications such as spontaneous abortions, prematurity, and stillbirths. Fetal deaths at or beyond 20 weeks' gestation may be attributed to APS involvement, and aPL antibodies are found in 10-15% of women at high risk for fetal growth restriction.
As for the hsg, I think I would side with the specialist and do it just for the peace of mind. I would want to give my next pregnancy any possible chance of being successful, and if this could rule out one more thing, I would be all for it.
I hope all of this helps. Take care of yourself and remember you are your own best advocate!
Thank you so much for your post and all the amazing info. I didn't realize there were different types of MTHFR so i just re checked my bloodwork and it says i have homozygous for the A1298C mutation but do not have the C677T mutation? Is that still considered the most serious? I, like you was told to take and extra 4mg folic acid a day in addition to the prenantals during my last pregnancy, which i did, and was also doing daily Heparin injections and baby asprin for the Phos. Serine IGM. Looking over my blood work again, i test negative for LAC and aCL. This was rechecked during and after my last pregnancy and came out negative for teh Phos. Serine IGM, but doc said that was because it was being treated with the heparin. As for the HSG, i didn't realize the fetus could attach to the wall of the septum, which would maybe make sense in my case since 1st and 3rd m/c's happened at exactly same time. I read you other reply too and you're right i shouldn't jump to conclusions until i know. I thing that worries me is i'm pretty sure i am already pregnant again and therefore cannot address the HSG issue if i am. Owell, i guess its just time for the waiting game, right? Thank you all for your replys. This site is amazing and has really been an awesome support for me. Glad i found it!
I've never posted on a site before & Hope that this processes correctly. Not sure who I was supposed to write this "to". But Baby1234 seemed to have a lot of information. Here goes.... I had an early 6 wk miscarriage December 21, 2006, and then July 5th at my 12 week dr. checkup I found out that the baby had no heartbeat. They could tell it had just passed in recent days by the side & could see a clot & were pretty sure that was the cause. I had major complications during surgery and had DIC-- basically my uterus wouldnt contract and it took 2 hours and just less than 75% of my blood loss to stop the bleeding. Thankfully their last option- a hysterectomy was avoided, just barely. I have a tiny scar now where they had begun cutting. My blood would not clot at all-- which is an issue belonging to the DIC. Well, now that its been enough time after the pregnancy loss and transfusions, bloodwork was done- and we found I have compound heterozygous mthfr c677t/a1298c:. Today the dr. told me that my homocysteine (sp) levels are normal. On the scale of 4-10, Im a 9. So he said I wont have to go on heparin/lovenox for pregnancy, which is great news. But for daily life, not just a future hopeful pregnancy I need extra b6, b12, folic acid & possibly a baby aspirin. Just the aspirin until we find Im pregnant. Any advice? Any suggestions or more information. The dr. did suggest today that I could see a specialist regarding this since its very complicated and difficult to understand. Any help or information will be priceless. Im otherwise healthy, fit, active, and in shape-- so I've been told my risk is not as high for clots. But I've also had a nurse yesterday warn me against road trips and crossing my legs even. So Im not sure how serious this is. I of course want to take any precaution I can for my health, and any future babies health. Thanks, Alysha
I've had two miscarriages in the last year at approx 16 weeks. I have one healthy 7 year old girl, but the babies we lost were both boys. I had the good fortune of very early on tapping into a doctor who ran what he thinks are all the possible tests for this kind of thing and everything has come back negative. My husband and I are now wondering if we should try again since we have yet to hear a story that parallels ours---everything seemingly normal but two miscarriages at about the same time early in the second trimester. Does anyone have any thoughts? Many thanks, Penny
I am so sorry for your heartbreaking losses. My story is similar to yours, but I have no answers. I am just looking for information on what I can do if I get pregnant again. I have a healthy 10 year old daughter and have had 5 losses since. Two were at exactly 21 weeks. (1girl, 1boy). Like you, I have no answers. I have had all the testing done for recurrent losses and everything comes back normal. Both babies appeared normal. Since I was so far along, they were able to do complete autopsies. Their hearts just stopped beating one day. Has your doctor given you any advice or suggestions if you get pregnant again? (maybe taking something experimentally, like heparin or folgard). Thanks, Maria
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