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Family Forum / Pregnancy / Pregnancy / February 2007MTHFR gene mutation
I have a friend who has been found to have the MTHFR gene mutation. She has previously had three healthy babies without problems related to this condition, then she had a miscarriage, then learned of the mutation. Now she is entering the second trimester of pregnancy. She asked her blog readers to investigate this for her, since she has not been able to find out, specifically, whether this condition is high risk for delivery or only for pregnancy itself. She would prefer to give birth in the birthing center, or, failing that, the hospital where my babies were born, which is a more relaxed environment than the one in which the high risk doc deliver. I don't know of any better place to ask that question than right here. Has anyone experienced this? Know of any good studies? Her blog post is below. <<Okay, so I have this compound MTHFR gene mutation, discovered via genetic testing at the beginning of this pregnancy. I am seeing a perinatologist (high risk OB), whom I like a great deal. It's pretty clear from the research I have done, and the discussion I have had with my doctor, that this mutation raises my risk for certain thrombophilia-related complications during pregnancy (miscarriage,m stillbirth, eclampsia, etc), although these risks apparently cannot be quantified. What no one seems to be able to tell me is what my risks are for specific complications related to the mutation during labor and delivery. I simply cannot get any good answers on this anywhere. My doctor says he just wants to "watch me more carefully" during labor and delivery. But really, I need clearer answers because this will play a big role in how and where I decide to give birth. I need to know whether I really need to stay with the perinatologists. If I do, I would have to give birth at a local hospital I do not favor, where I certainly will not get the kind of birth I want. My first choice would still be to do it at the birth center - a waterbirth with midwives. But I do not feel confident making that decision unless and until I get some better info about what specific risks, if any, my defective genes pose to me/baby during labor and delivery. I have searched the interwebs in vain for the info I need. And this is where YOU come in, dear blog reader. If you know someone who has had this MTHFR issue, or if you know any geneticists or perinatologists who could anser these questions for me, please ask them about it and post your comments below. Feel free to copy and post this request for info from me on your own blog.>> TIA, Leslie My understanding, and I could be wrong, is that the MTHFR gene mutation thingy only affects the pregnancy. Getting pregnant, staying pregnant, etc. I don't think it specifically affects the baby itself, and shouldn't affect the delivery of the baby. I believe that she would be seeing a perinatologist so that they can watch the pregnancy very carefully, to make sure that baby makes it to term. Isn't this a question that the perinatologist should be able to answer? Q: How does the MTHFR gene mutation affect the delivery? Is there any reason why the delivery has to be hospital based? Is the delivery considered high risk, or just the pregnancy? Can I deliver vaginally, and with a midwife in a birthing center? Etc.  SignatureJamie Earth Angels: Taylor Marlys -- 01/03/03 Addison Grace -- 09/30/04 Check out the family! -- www.MyFamily.com, User ID: Clarkguest1, Password: Guest Become a member for free - go to Add Member to set up your own User ID and Password >I have a friend who has been found to have the MTHFR gene mutation. > She has previously had three healthy babies without problems related [quoted text clipped - 51 lines] > > Leslie > My understanding, and I could be wrong, is that the MTHFR gene mutation > thingy only affects the pregnancy. Getting pregnant, staying pregnant, etc. > I don't think it specifically affects the baby itself, and shouldn't affect > the delivery of the baby. This is what she has found in her research, only it doesn't specifically say anything about the birth. �I believe that she would be seeing a > perinatologist so that they can watch the pregnancy very carefully, to make > sure that baby makes it to term. She is doing this. > Isn't this a question that the perinatologist should be able to answer? All he says is, "We will want to watch you carefully during labor and delivery." Thing is, being high risk, and with their particular hospital, this group is fairly biased toward hospital birth anyway. Thanks for the input, Jamie. Leslie On Feb 24, 9:20?pm, "Jamie Clark" <jamiel...@comcast.net> wrote: > My understanding, and I could be wrong, is that the MTHFR gene mutation > thingy only affects the pregnancy. Getting pregnant, staying pregnant, > etc. > I don't think it specifically affects the baby itself, and shouldn't > affect > the delivery of the baby. This is what she has found in her research, only it doesn't specifically say anything about the birth. Usually when things don't specify, it's because they aren't the issue. If there was an issue with labor and delivery, something in the literature would say so -- either must be C-section, or shouldn't be c-section, or cannot be vaginally birthed, etc. Whatever. But if delivery isn't mentioned, then I would gather than delivery isn't part of the problem. Now, that doesn't necessarily mean that the baby wouldn't need special care after delivery, but I don't think they do. If the baby can make it to term, then it's fine. I think the issue is with placental problems and the baby dying in utero. ?I believe that she would be seeing a > perinatologist so that they can watch the pregnancy very carefully, to > make > sure that baby makes it to term. She is doing this. > Isn't this a question that the perinatologist should be able to answer? All he says is, "We will want to watch you carefully during labor and delivery." So, she needs to follow up with -- watch me for what? At what point do we assume that my pregnancy is like any other? If I make it to 36 weeks, can I "discharge" out of your care and into the care of a midewife? 30 weeks? At what point do we consider me out of the woods? Is there something specific you are going to be watching out for during labor and delivery? What are the possible issues that could occur -- specific to the genetic mutation? Is it possible to delivery naturally without meds, and are there any adverse affects on the baby, or to me, because of the mutation? Thing is, being high risk, and with their particular hospital, this group is fairly biased toward hospital birth anyway. Yes, of course they are. But if she can get some answers from them to very pointed and specific questions, she may be comfortable enough to discharge herself from their care towards the end of her pregnancy. The other trick may be to find a midwife or birthing center to work with her -- she might be able to start seeing a midwife concurrently. It would really depend on how educated the midwife was about this type of issue, and if she was clear that it was a pregnancy related issue, not baby/birth issue. Thanks for the input, Jamie. Leslie No problem. Good luck to her. SignatureJamie Earth Angels: Taylor Marlys -- 01/03/03 Addison Grace -- 09/30/04 Check out the family! -- www.MyFamily.com, User ID: Clarkguest1, Password: Guest Become a member for free - go to Add Member to set up your own User ID and Password > My understanding, and I could be wrong, is that the MTHFR gene mutation > thingy only affects the pregnancy. Getting pregnant, staying pregnant, > etc. I don't think it specifically affects the baby itself, and shouldn't > affect the delivery of the baby. I believe that she would be seeing a > perinatologist so that they can watch the pregnancy very carefully, to > make sure that baby makes it to term. I have a similar understanding to Jamie, two things spring to mind, it causes increased risk of blood clots, but presuming that is well controlled through pregnancy, is there any reason to think there is an increased risk during the delivery phase of things? I expect not, but it's a question worth asking. The other thing is, when the doctor says "watch you carefully" what does that mean, chances are it means continuous fetal monitoring, but is that really the same thing as watching someone carefully, an experienced midwife watching someone carefully is much more likely to spot early signs of a blood clot than a machine monitoring the baby, similar to doctors versions of watching carefully for vbac, I'd trust the human more. Oh, and another thing I thought of with the blood clotting issue, dependent on how it's controlled, does that cause any third stage issues, my recollection is it's usually controlled by folic acid and B vitamin combinations, not blood thinners, but that may not apply to the individual case. Another thought is to ask the midwives at the birth centre, if they say no, then you have your answer, more than likely they will say yes, a doctor is unlikely to clear anyone to give birth out of their care, even though when you dig deep they are often doing nothing more. Cheers Anne > > My understanding, and I could be wrong, is that the MTHFR gene mutation > > thingy only affects the pregnancy. Getting pregnant, staying pregnant, [quoted text clipped - 26 lines] > > Anne Thanks, Anne. Good point about asking the midwives. The other option is to choose to birth at the hospital where she had her other babies so maybe she should ask the group she would choose there as well. Leslie Is your friend heterozygous or homozygous for MTHFR? If she is homozygous or has a history of clots, she will likely need to be on anticoagulation and probably is not a great birth center candidate. If she is heterozygous with no history of clots, I'd think she would be a fine birth center candidate. > Is your friend heterozygous or homozygous for MTHFR? > [quoted text clipped - 4 lines] > If she is heterozygous with no history of clots, I'd think she would > be a fine birth center candidate. I don't know the answer to that but will find out. Thank you, alath. I was hoping you would reply. Leslie > Is your friend heterozygous or homozygous for MTHFR? > [quoted text clipped - 4 lines] > If she is heterozygous with no history of clots, I'd think she would > be a fine birth center candidate. This is what she posted on her blog: I am "compound heterozygous" for the MTHFR genetic mutations C677T and A1298C. I also carry the PAI (-675) 4g/5g genotype. I'm presuming that will be meaningful to you. :-) Thanks. Leslie Leslie directed me to this discussion. I am the friend with this MTHFR gene issue. I so appreciate her trying to help me track down the info I need. I am 39 years old. I had three normal pregnancies in 1991, 1995 and 1998. I then had three miscarriages in 2006, which is why my midwife referred me to the perinatologist, who tested me for the MTHFR issue, among other things. As Leslie said, I am "compound heterozygous" for the MTHFR genetic mutations C677T and A1298C. I also carry the PAI (-675) 4g/5g genotype. After these genetic issues were found, my doc tested me for homocysteine levels and (I think I am saying these right) PAI levels. All was normal. He decided to put me on daily baby aspirin and Metanx in addition to prenatals, He told me that since my homocysteine level was normal, I did not need the Lovenox or heparin shots. I have never had any diagnosed clotting disorder, but I have found that since I started taking the baby aspirin, the aching in one leg that I have had for several years, near what I assumed was a varicose vein (they run in my family and that's what it looked like) has completely gone away. I am now 13 weeks pregnant and am having a very normal pregnancy. I am seeing the perinatologist every 2 weeks. The way my doctor explained the situation to me, I am at higher risk for clotting problems during pregnancy AND childbirth, which can lead to placental problems or cord problems. He also said I am at higher rsk for developing eclampsia. He could not quantify these risks for me. He said that in his experience, women with the MTHFR mutation and the PAI thing are more likely to have problems during delivery, but again, he could not quantify these risks. I have been doing a lot of research online, and there appears to be a great diversity of opinion on how to treat women with this issue. SOme doctors even induce or do a C-section at 38 or 39 weeks to prevent the possibility of decreasing placental function. So this is my situation. I welcome all feedback. Katie www.katieallisongranju.com So there's my I don't think anyone is going to be able to quantify your risks precisely, or provide comparison trials of different OB management for your condition. As a practical matter, it would be extremely difficult to do this study. Imagine having to recruit 3,000 participants with exactly your zygosity, then randomly assigning them to hospital birth with continuous monitoring, hospital birth with intermittent monitoring, versus home birth. That study will never be done for obvious practical reasons - even finding a large cohort of people with your zygosity for a retrospective descriptive study would be extremely difficult. So, it's going to be a matter of judgement. There is clearly a spectrum of concern. A homozygote with a history of late term fetal demise, blood clots, and/or placental abruption would be the most concerning picture. A heterozygote with a totally benign pregnancy history would be the least concerning. You are obviously somewhere in between those two extremes. No matter whom you ask about your management, you are going to be getting a judgement call based more on experience and style than on hard research based evidence. Based on my judgement, I think it would be reasonable to do fetal monitoring and serial ultrasound in the third trimester. However, I don't think I would consider early delivery if there were abnormal findings on testing and/or ultrasound. I don't think your history alone justifies early delivery, and certainly not elective cesarean delivery (assuming normal uncomplicated vaginal deliveries in your previous pregnancies). Birth site is a more difficult call and it is going to come down to your priorities. Personally, I don't think a freestanding birth center would be a great choice for someone who has an increased risk of intrapartum abruption. However, a hospital based birth center might be a worth considering. I do not necessarily think you would have to stay with a perinatologist for your actual delivery. It seems to me that co- management with an obstetrician or nurse midwife could be considered. Is there another OB or another hospital in town you would feel more comfortable with? Have you discussed your concerns about this hospital with your perinatologist? How responsive has he/she been? Remember that for all clinicians, and especially for a perinatologist, our job is to recommend what we feel is the safest option for you. Especially, our job is to recommend a management plan that reduces the chances of really bad outcomes. When patients let us know about strong preferences for them - for instance, avoiding cesarean section - we should be able to modify/adapt our recommendations to accommodate your priorities and preferences. Some of us are better at this "modify and adapt" part than others. I certainly do know perinatologists who are willing and able to work with people on this basis. Hopefully, whomever attends your birth, they should be able to come up with a plan that reflects your priorities and preferences as well as your history and thrombophilia condition. > Based on my judgement, I think it would be reasonable to do fetal > monitoring and serial ultrasound in the third trimester. However, I [quoted text clipped - 3 lines] > delivery (assuming normal uncomplicated vaginal deliveries in your > previous pregnancies). Sorry, typo: I wouldn't consider early delivery UNLESS there were abnormal testing or ultrasound findings. |
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