MTHFR Mutations and Recurrent Miscarriages


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MTHFR Mutations and Recurrent Miscarriages Explaining the MTHFR Mutation. The MTHFR mutation is an anomaly in a person’s genetic coding which interferes with the MTHFR and Miscarriage Risk. Because the current evidence so loosely supported, there are many scientists who challenge A Word From. MTHFR and Pregnancy One of the main issues with the prevalence of the MTHFR gene is a homocysteine build up which can cause problems with blood clots and had been widely linked to recurrent miscarriages. While some MTHFR mutations are not a.

During pregnancy, women who test positive for a mutated MTHFR gene may have a higher risk for miscarriages, preeclampsia, or a baby born with birth defects, such as spina bifida. Here’s what you. Some papers say MTHFR is associated with recurrent miscarriage and others say it is not. “Several case-control studies were investigated MTHFR C677T polymorphism as risk for recurrent pregnancy loss (RPL). Women who test positive for an MTHFR mutation may have an increased risk of preeclampsia, blood clots, recurrent miscarriages, or giving birth to a baby with congenital disabilities. Multiple.

In patients with MTHFR (methylenetetrahydrofolate reductase) mutations and hyperhomocysteinemia, recurrent pregnancy loss is a frequent feature. The aim of the study was to evaluate the impact of folic acid, vitamins B6 and B12 supplementation for the lowering of total homocysteine concentrations an. If you have a genetic mutation on the gene that creates the MTHFR enzyme, it means that your body will be less able to use folic acid to benefit your health.

Instead, you are left with an increased risk of miscarriage, as well as many other potential health issues such as fatigue, headaches, anxiety, depression, and more. We found one study in which 351 women with recurrent miscarriages (12% with the MTHFR mutation) were treated with prophylactic asprin + unfractionated or LMW heparin to term; the success rate of normal term delivery in this study was 94%. MTHFR mutations also increase the risk of several physical health problems, including but not limited to cardiovascular disease and stroke, recurrent early miscarriage, migraine with aur. I had a MMC in Januarybaby stopped growing at 6w4d.

I then had a second MMC in June and found out it was a blighted ovum. Ive done some testing and so far everything has come back negative other than the MTHFR gene mutation. I am heterozygous for the strand A1298C.

My doctor put me on methylfolate.

List of related literature:

With such a common frequency other cofactors, as yet unidentified, will contribute to the well-documented increase in miscarriage and recurrentmiscarriageassociatedwithMTHFR.Similartotheother thrombophilias, the MTHFR mutation is much less common in the population of African ancestry.

“Comprehensive Gynecology” by Gretchen M. Lentz, David M. Gershenson
from Comprehensive Gynecology
by Gretchen M. Lentz, David M. Gershenson
Elsevier Mosby, 2012

Mutations in the factor V, prothrombin and MTHFR genes are not risk factors for recurrent fetal loss.

“Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice E-Book” by Robert Resnik, Charles J. Lockwood, Thomas Moore, Michael F Greene, Joshua Copel, Robert M Silver
from Creasy and Resnik’s Maternal-Fetal Medicine: Principles and Practice E-Book
by Robert Resnik, Charles J. Lockwood, et. al.
Elsevier Health Sciences, 2018

In addition, the common MTHFR mutations are not likely associated with recurrent miscarriage [82].

“Reproductive Endocrinology and Infertility: Integrating Modern Clinical and Laboratory Practice” by Douglas T. Carrell, C. Matthew Peterson
from Reproductive Endocrinology and Infertility: Integrating Modern Clinical and Laboratory Practice
by Douglas T. Carrell, C. Matthew Peterson
Springer New York, 2010

Inherited thrombophilias resulting from genetic mutations in clotting factors have emerged as a potentially important cause of recurrent pregnancy loss, but a great many women with these mutations have completely normal reproductive performance.

“Clinical Gynecologic Endocrinology and Infertility” by Leon Speroff, Marc A. Fritz
from Clinical Gynecologic Endocrinology and Infertility
by Leon Speroff, Marc A. Fritz
Lippincott Williams & Wilkins, 2005

It is in fact the excess of homocysteine that is thought to contribute to infertility and possibly miscarriage risk in those with MTHFR mutations.188 High homocysteine not only contributes to DNA damage but may also increase the risk of blood clots (although this issue is controversial).

“It Starts with the Egg: How the Science of Egg Quality Can Help You Get Pregnant Naturally, Prevent Miscarriage, and Improve Your Odds in IVF (Second Edition)” by Rebecca Fett
from It Starts with the Egg: How the Science of Egg Quality Can Help You Get Pregnant Naturally, Prevent Miscarriage, and Improve Your Odds in IVF (Second Edition)
by Rebecca Fett
Franklin Fox Publishing LLC, 2019

MTHFR mutations, especially the C677T polymorphism, have been linked to health risks, including neural tube defects, poor pregnancy outcomes, and cardiovascular disease, while perhaps having a protective effect for certain cancers, such as lymphocytic leukemia and colon cancer(32).

“Handbook of Drug-Nutrient Interactions” by Joseph I. Boullata, Vincent T. Armenti
from Handbook of Drug-Nutrient Interactions
by Joseph I. Boullata, Vincent T. Armenti
Humana Press, 2010

Homozygosity for mutations in the methylenetetrahydrofolate reductase (MTHFR) gene is by far the most common cause.

“Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice” by Robert Resnik, MD, Robert K. Creasy, MD, Jay D. Iams, MD, Charles J. Lockwood, MD, MHCM, Thomas Moore, MD, Michael F Greene, MD
from Creasy and Resnik’s Maternal-Fetal Medicine: Principles and Practice
by Robert Resnik, MD, Robert K. Creasy, MD, et. al.
Elsevier Health Sciences, 2013

It has been shown that the mothers of infants with NTDs were twice as likely to have MTHFR mutations than controls.

“Fanaroff and Martin's Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant” by Richard J. Martin, Avroy A. Fanaroff, Michele C. Walsh
from Fanaroff and Martin’s Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant
by Richard J. Martin, Avroy A. Fanaroff, Michele C. Walsh
Elsevier Health Sciences, 2010

Association of parental hyperhomocysteinemia and C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss.

“Integrative and Functional Medical Nutrition Therapy: Principles and Practices” by Diana Noland, Jeanne A. Drisko, Leigh Wagner
from Integrative and Functional Medical Nutrition Therapy: Principles and Practices
by Diana Noland, Jeanne A. Drisko, Leigh Wagner
Springer International Publishing, 2020

In pregnancy, associated with uteroplacental vasBoth mutations associated with decreased MTHFR activity, which increases homocysteine concentrations, particularly with low folate.

“AWHONN's Perinatal Nursing” by Kathleen R. Simpson
from AWHONN’s Perinatal Nursing
by Kathleen R. Simpson
Wolters Kluwer Health, 2013

Oktay Kutluk

Kutluk Oktay, MD, FACOG is one of the world's foremost experts in fertility preservation as well as ovarian stimulation and in vitro fertilization for infertility treatments. He developed and performed the world's first ovarian transplantation procedures as well as pioneered new ovarian stimulation protocols for embryo and oocyte freezing for breast and endometrial cancer patients.

Mail: [email protected]
Telephone: +1 (877) 492-3666

Bibliography: oktay_bibliography

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  • I have the MTHFR mutation and lost 2 pregnancies before they found it. I started medication (folgard) and now have 2 healthy daughters. Prayers this is the answer for you!!

  • I have mthfr as well. I found out a year ago this month. We started me on folgard and a baby aspirin every day. I got pregnant in may and I now have a healthy 7 week old! I’ve had 2 miscarriages but had 2 healthy babies in between my miscarriages so we were so confused by it all. I just say all 3 of my babies are my miracles. Praying that you are able to get pregnant and have a healthy baby!

  • I can totally understand you being overwhelmed with this new information, it’s such a complicated subject! But I am so hopeful that this is the answer you’ve been looking for! Melatonin knocks me out too but I didn’t mind it because I did have trouble sleeping. I definitely think it helps with egg quality. Thinking of you guys always and I’m so hopeful these changes are going to make all the difference!

  • Ive had 2 miscarriages and 2 chemical pregnancies and I’m currently undergoing bunches of tests. I’m on my 8th cycle doing opks since the last chemical and temping, using conceive plus and nothing. 2 years and we’ve not had a successful pregnancy and I think we’re going to have to look into ivf. I feel your pain, you’re so strong. Don’t give up xxx

  • Love the shirt. Lol you crack me up. I am so sorry you have to deal with the scare of this. I had a lot of scares with my second and one with my first. I will right your baby in my prayer list and pray all the time. You are such a good Mama!

  • I would go back to the doctor that you first requested the test from that didnt give you the test and let him know you had 6 miscarriages due to his incompetence.

  • Celeste, I truly believe this will be the answer to your prayers. I tested positive for heterozygous MTHFR. My doctor found it after 2 miscarriages. Even though though not all doctors believe there is a link, mine (thankfully) did. I now have a gorgeous little girl and I don’t think that would have happened without this diagnosis. I take Folgard currently. My doctor said that MTHFR doesn’t keep you from getting pregnant, it keeps you from staying pregnant. Best wishes!!!!!

  • Hi Celeste. I hope this comment finds you well. I’ve never felt so strong an urge to comment before. I’ve been following you for a while as i was also struggling to conceive for 3 years. You seem like such a sweet soul and I pray you get to experience a successful pregnancy and hold your little one in your arms soon. I had to comment regarding Clexane: I personally had to be given some as doctors suspected I could’ve had a blood clot this pregnancy. I asked about effects on baby etc. and I distinctly remember the a&e doctor saying it was completely safe so much so that they use it for pregnant women who’ve suffered multiple losses in order to PREVENT MISCARRIAGE. So fingers crossed it helps you. xxx
    Also please do check how baby aspirin may react with Clexane as Clexane can thin the blood and I believe regular aspirin does too. So it’s worth checking to be sure. (we don’t really have baby aspirin in the UK so I can’t say). Also you could try more dietary sources of folic acid e.g. spinach etc as these will probably be absorbed more readily by your body. Good luck. I will follow your journey with you. we have already laughed and cried together and I truly hope this next pregnancy will be the one. Much love xxx

  • They add folic acid to everything in Australia containing white flour. I’m giving this up completely from my diet and never taking prenatals again. I’m getting my folate naturally from other foods.
    Did you try giving up flour?
    You don’t want it building up in your system.

  • Hi. Were you tested for the other mutations for trombophilia?
    There are some other mutations….you could see a hematologist for this. I have mthfr and pai mutation,but there are some other mutations.’In Romania we take clexane during all pregnancy+6 weeks postpartum….please ask for the ehole set of mutations

  • I have the gene as well. Miscarried my 1st pregnancy, and have been on Throne Prenatals (methylfolate) for the last year. I’m now 33 weeks pregnant. I did a ton of hormonal balancing through vitamins/supplements to aid in helping support my body prior to getting pregnant again. I try to tell everyone I know who is planning on getting pregnant to get the MTHFR gene prior to getting pregnant. This gene is soooo common! Don’t give up! Look into functional medicine to help balance your hormones prior. Check out the Throne Research Basic Prenatals!!!

  • Praise God you have a healthy baby!! <3 I lost a baby (ectopic pregnancy) over 10 years ago and it was the single hardest thing I have ever gone thru. God has been good to me though and blessed me with 3 other perfect pregnancies. He is good isn't he? I'll pray you continue to have a healthy pregnancy and you deliver a healthy baby. I just subbed to your channel:)

  • My sister has MTHFR and antiphospholipid syndrome. She had 3 miscarriages, before and then she did take baby aspirin and did daily Heparin shots up until her 9th month and they did shots twice a day.
    She has 2 boys that were born healthy and big!!
    I pray for your journey!

  • Have you ever heard of a male who is homozygous for MTHFR (C677T) and having factor V leiden mutation (clotting disorder) to be the sole cause of miscarriage in a woman who does not have any MTHFR mutation whatsoever?

  • I have MTHFR I think it’s 2776c or something like that I had 2 early losses last year then started taking a daily baby aspirin and 1600 mg of folic acid plus my prenatal and I am 11 weeks 3 days with a healthy baby

  • I have the 2 MTHFR mutations also. Recently found out and ive had 2 miscarraiges and 6 chemical pregnancies and 1 d&c.

    I have just recently found out im pregnant very early and i have bookoos of vitamins and new medicines i have to take in order to keep the baby safe.

  • First off I’m so happy baby is okay!! My mole also got bigger and still is larger. Also, that mutation is common, the multivitamins I take have fully methylated folate since it is common. Im not sure if I have it or not but better to be safe! I’m so glad you and baby are healthy!!

  • I’ve lost 3 babies (that we know of) and they finally did the workup. Turns out I have MTHFR as well as high antibodies. For the MTHFR they are giving me a heavy duty blood thinner injection I will have to do when I get pregnant so my body stops clotting the pregnancy off

  • my sister has a MTHFR gene mutation (not sure of the exact mutation sorry) but she had 3 healthy pregnancies and 5 miscarriages over about 7 years. I truly hope you have a more positive experience with this specialist and get your rainbow baby soon <3

  • My son’s doctor suggested we test for this mutation MTHFR if our insurance covered. If you don’t mind, was yours covered? Or how much out of pocket? We are in the US, but this may still give me an idea.

  • Hello great lady. don’t be discouraged. your time is coming. I got something else that you can try that could work great for you. please email me to give you the good idea to try.
    [email protected]

  • I took have the same MTHFR mutation. Careful with the folate they prescribed you. I’ve read that that form is just as bad and methylfolate is best because it’s been broken down in the way that the body would.

  • Omg so funny. I started growing a mole this pregnancy.
    During my first a mole I had pre pregnancy looked huge! Turns out a skin tag grew inside it….��

  • I am homozygous MTHFR C677T and my husband is homozygous MTHFR A1298. I have a history of recurrent pregnancy loss and bleeds in the first trimester of my successful pregnancies. It’s taken 9.5 years, 11 losses, 3 miraculous rainbow babies (with #4 on the way) and so SO many tests to get to the point I’m at now but at last I have an answer. It’s been life-changing to say the least.

    For my three older children, I was on a b vitamin supplement that my naturopath has prescribed (but my dr okayed) that unbeknownst to us has the proper form of folate I need in it. I was also on progesterone from 4 to 14 weeks and a daily baby aspirin as I have bleeds in my first months and my dr wanted me on it as a precaution. After my diagnosis, we added high dose methylfolate to my protocol, upped my dosage of baby aspirin to two a day (til 15 weeks), and so far it seems to be working. I’m 18 weeks along with rainbow baby #4.

    Since my diagnosis, I’ve researched MTHFR pretty extensively since my OB is clueless about it and the hematologist I met with a year ago didn’t want to spend much time talking to me about it. (He just wanted to put me on injectable blood thinners and folate and be done with me.) What I do know though is mostly how MY mutation affects me. We do know that both mutations make it hard for the body to process folic acid though so we both take a folate supplement daily. I also found out that the A mutation isn’t as well researched at the C mutation is. And so far, my husband hasn’t had any issues pertaining to his MTHFR and mine have been limited to my pregnancies.

    Sorry for the long post but I wanted to share my story. And I wanted to tell you that there is hope. As long as you can feel it, there is still Hope. I’ve witnessed miracles in the making and every time my children smile at me or give me a hug, I’m reminded of just how incredibly blessed I am to have even the three kids I do have. It’s not been easy and this struggle has been so long, draining, and terrifying. I’ve battled an emotional eating disorder, crippling anxiety/PTSD, and depression/PPD because of my struggle. My marriage has suffered at times and my relationships with family, friends, and even my own children have been strained nearly to the breaking point. Infertility is the hardest thing I’ve had to endure in my life and I wouldn’t wish it on anyone. BUT THERE IS HOPE. I see it in my children’s smiles and feel it in the joyful little kicks and thumps as our littlest one makes me aware of his/her presence. I so hope that this is your answer and that you can finally hold that much longed for rainbow baby in your arms soon.

  • I would consult the specialist about taking a baby aspirin along with the blood thinner that they would give you.  That can make a difference.  You wouldn’t want to do anything harmful to you or baby and not know it. Baby aspirin does not actually thin the blood it makes the platelets slippery so they don’t stick together as easily so the combinations of thin blood and platelets that don’t do their job you can get yourself into trouble. Good luck and I hope all of this is the answer you have been looking for.

  • My sister had recurrent miscarriages and poor egg quality and took ubiquinol coq10,vitamin d and folate before her last retrieval and is 20 weeks pregnant and has one more good quality blast on ice.

  • I suggest for Tim to take folate also, it could only help in producing better quality sperm. While my husband and I were ttc, both of us were on solgar 400 mcg folate. I wish you both all the best!

  • Finally! You changed clinics and started to receive answers! It’s like a light at the end of a tunnel now you can concentrate on that and get a great cycle xxx

  • I had 2, lost 2, had 2 more…. the second 2 were both tongue tied. I didn’t learn until a year ago that I had this same issue. I firmly believe you are on the right path.

  • Hi Celeste! I’m so glad that you finally found some one who has been searching for the problems and the reason for all those miscarriages. This clinic is so much better I think, they really want to help and looking what’s happening with you.
    I admire you to stay strong and faithful during this process, you inspire me in many ways.
    So exiting that this new cycle in may will maybe THE cycle that ends in a healthy pregnancy. ����You and tim are in our prayers. Sending you lots of babydust and faith

  • Oh my heart longs for you to have a baby! I recently became a surrogate and have my first beta tomorrow and came across your page when doing ivf research. I look forward to your update videos and always wish I could just help in some way! A baby is such a wonderful gift and if y’all ever decide to go the surrogate route (obviously trying everything you can to have your own pregnancy first) I’ll be here! I know La Jolla IVF clinic in San Diego CA is international and I loved working with them ❤️ baby dust to you!

  • Aww, I love you! You’re such a sweetheart. Seeing you cry just breaks my heart! I wish we lived close together so we could be friend in real life ❤

  • Isn’t it amazing that when you find out you’ve been diagnosed with something. that everyone comes out and says they have it or know of someone who has it.

  • I am so happy that you’re finally getting some answers. Praying that you get things where they need to be and you have your beautiful baby that you’ve waited so long for. Hugs prayers and luv from iowa as always.

  • I can totally relate to the melatonin Celeste! Initially I made the mistake of taking it at midday at work, struggled so bad to stay awake had to go home and sleep! It’s a killer! Fingers and toes crossed for you both x

  • Hi Celeste, I am so glad you are feeling encouraged but just wanted to share my own story to give another side. Just be careful! I have compound heterozygous MTHFR gene mutation (which means I have one copy of each of the two separate genes, the A one and the C one, unlike yours which is two copies of one of the genes) and before I got pregnant my hematologist, obstetrician and fertility doctor were all insistent I not take aspirin or any type of blood thinner as they did not feel it was worth introducing bleeding risk if I did not definitively need it. I also had normal homocysteine function and my thrombophilia workup did not reveal any detectable issues. They said the gene mutation means something when found in conjunction with another issue, which we didn’t find. I listened to them and didn’t take any sort of blood thinners. I am almost 6 months pregnant now and thankfully the baby is fine, but he did have a small bleed in his brain that likely occurred about a month and a half ago. We don’t know why it happened, but all tests for causes have come up negative. Once my doctors heard the baby had had a bleed, they all said they were so glad we didn’t take any blood thinners just because of this isolated gene mutation, as it likely would have made the bleed worse and much more harmful if the baby survived. They all made sure to tell me not to take any aspirin at any point for the duration of the pregnancy as well. I do believe doctors have a reason beyond stubbornness when they refuse to treat something that isn’t clinically proven–though I also totally understand your frustration with your previous doctor refusing to even test and being limited in his views in general, as I agree that six losses is not just bad luck. Believe me, I wanted to treat my MTHFR mutation too. That said I did not have the same recurrent miscarriage history that you do; I had lost one prior pregnancy and had trouble conceiving again, which is why I was seeing all those doctors. Of course if your doctor recommends the medication, you should listen to your doctor. I just wanted to share my own experience in hopes it would help you create your own full picture and plan. Lots of love and best of luck to you. I truly hope this new doctor is the answer for you! ❤️

  • Your homosystene level is normal now, but is it possible it becomes abnormal once you get pregnant? I can’t wait for you to try this new cycle with all your new medications. I really really hope that 2017 is your year and you get a wonderful Christmas or new years gift ❤����

    Asprin and Clexane do the same thing, so no need to double up �� sounds like your new fertility specialist knows what they are doing. Good luck!!

  • I’m so sorry ���� aslo I lost my best friend Annie she is a bulldog I cried and cried and cried and cried and cried and cried and she was the most beautiful bulldog it broke my heart because I didn’t get to say goodbye to her and I left her without saying goodbye my uncle had sold her away from me and I cried I used to I wish I can see her again but I can’t anymore ������ i miss her so much �� she said to me that she misses me and not to make her sad it broke my heart

  • I’m so excited for you! And what perfect timing to find this out ���� I bet you this is your answer! I will be praying for you! I’ll see what I can dig up on this too for you ❤️