Compound Heterozygous MTHFR

PiperD

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Reply Compound Heterozygous MTHFR Posted on: Jun 14, 2011 at 7:07pm
Dr. Braverman,

I am compound heterozygous for MTHFR. I have had two pregnancy losses. One for unknown reasons, D&C at 8 weeks due to never detecting a heartbeat. The second was a missed miscarriage at 10 weeks after seeing a strong heartbeat three weeks in a row (Turner Syndrome). I know that most likely the reason for the second was the Turner's, but being that we still don't know the reason for the first, could it have been due to MTHFR? I am currently taking one Neevo with DHA and one baby aspirin a day. My homocysteine level is 5.7. My last miscarriage required two D&Cs which subsequently gave me Asherman syndrome, so in August, almost one year after my last miscarriage, I will FINALLY be able to do an FET (after two hysteroscopies to fix the scarring). Should Neevo and baby aspirin be enough? Or are there additional vitamins and/or blood thinners (lovenox?) I should take as well? I can not risk another miscarriage after all the scarring and surgeries so would like to do as much as I possibly can to ensure a healthy pregnancy this time around. Also, all the other blood clotting disorders came back negative (protein S, protein C, ANA, Pai-1, Factor V).

Thank you so much for your insight.

Dr. Braverman

2024 Posts
Re: Compound Heterozygous MTHFR Posted on: Jun 15, 2011 at 3:48am
so many people ask me there opinion based on the blood tests that they have had, and most of the times the testing is profoundly deficeint to give you an educated opinion. I can tell you that it is unlikely the MTHFR is the cause of your issues. I would be happy to review your entire case with you , if you wish call Jackie in my office and she will arrange this for you.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

PiperD

0 Posts
Reply Re: Compound Heterozygous MTHFR Posted on: Jun 17, 2011 at 3:45pm
Here are my test results. Based on these, would you recommend lovenox?


MTHFR: One copy of the C677T mutation. One copy of the A1298C mutation.
PTT: 27 seconds (ref range 22-34 seconds)
Protein C, Activity: 150 (ref range 70-180% normal)
Protein C, Antigen: 99 (ref range70-140% normal)
Protein S, Activity: 80 (ref range60-140% normal)
Protein S, Antigen: 117 (ref range 70-140% normal)
Antithrombin III Activity: 114 (ref range 80-120% normal)
Lupus Antigoag Eval W/RFL: Not Detected
PTT-LA Screen: 29 (ref range <or=40 seconds)
DRVVT Screen: 25 (ref range <or= 42 seconds)
Cardiolipin AB (IGA): <10 Interpretation: Negative
Cardiolipin AB (IGG): <10 Interpretation: Negative
Cardiolipin AB (IGM): <10 Interpretation: Negative
Homocysteine: 5.7
Negative for the R506Q (Factor V Leiden) Mutation
Negative for the G20210A (Prothrombin/Factor II) Mutation

Additional testing at Hemotologist:
ANA EIA Screen: Negative
TSH 1.01
Thyroid Peroxidase AB (TPO) 0.4 (ref range 0.0-9.0)
Thyroglobulin AB (ATA) <0.9 (ref range 0.0-4.0)
Prothrombin Gene Mut Review: Result: Negative for Prothrombin (F2.g.20120G>A) mutation (GG nucleotide 20210)
PAI-1 5G/5G (NORMAL): This individual is negative for the 4G variant
PAI-1 Activity: 2.0 (ref range 0.0-20.0)

Your opinion would be greatly appreciated. I have spent over $20,000 in the last two years and still have no baby. I am losing my mind and going broke in the process.

Thank you.

Dr. Braverman

2024 Posts
Re: Compound Heterozygous MTHFR Posted on: Jun 18, 2011 at 12:54am
No I would not, this does not appear to be thrombophilic, what is the extent of the immune workup you have had? Thats where the problem most likely lies, as long as you have had a normal genetic(karyotype) screening. You should call me and let me sort this out for you.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

PiperD

0 Posts
Reply Re: Compound Heterozygous MTHFR Posted on: Jun 18, 2011 at 3:32pm
Yes, my karyotype came back as normal. The paternal karyotype is as well. I have had no immune testing done at all as I am told this is just bad luck. I guess I'm a little worried to open up a can of worms if this is just bad luck, but I'm also scared to go ahead with the FET if there is something I can do to prevent another miscarriage. Also, we are using donor sperm as I am in a same sex marriage. Can immune testing exclude specific problems or do most of your patients require extensive treatments?

Dr. Braverman

2024 Posts
Re: Compound Heterozygous MTHFR Posted on: Jun 19, 2011 at 1:12pm
immune testing can rule out immune issues, and you should have that testing done before your next FET. Im sure I can help you and you cant rest on just bad luck. that is the most common statement my patients are told and thats unfortunate.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

PiperD

0 Posts
Reply Re: Compound Heterozygous MTHFR Posted on: Jun 21, 2011 at 1:58pm
Here is my predicament... We now have to move our FET up to THIS MONTH because the scarring in my cervix seems to be returning. I had to wait 2 months (after my surgery) to try and now I am re-scarring again, just like last time. So we are going to try to sneak in this embryo transfer before I have to start all over again with the surgeries to fix the scarring. How quickly can the testing be done and how soon do you get the results? I am on day 2 of the estrogen pills and am looking at an embryo transfer around July 7th. We are fertilizing frozen eggs from my last cycle (which was stopped due to re-scarring of my cervix) and doing PGD on them instead of using our frozen embryos which we can't test (since they were frozen on day6). I do take methylprednisolone for four days around transfer. I'm so lost at what to do, and again, this is all very expensive which is why I fear running more tests and having more treatments may put me over my limit.

PiperD

0 Posts
Reply Re: Compound Heterozygous MTHFR Posted on: Jun 21, 2011 at 2:21pm
Also, are there any precautionary things I can do for this FET that may help and wouldn't hurt? Like HCG injections, steroid pills (?), lovenox, or any other thing I may be able to try without necessarily testing me?

Thank you for all of your valuable input!

Dr. Braverman

2024 Posts
Re: Compound Heterozygous MTHFR Posted on: Jun 22, 2011 at 4:51am
treatments can hurt as much as they can help . You really need to get proper testing so we know what medications are correct for such an important procedure.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

Dr. Braverman

2024 Posts
Re: Compound Heterozygous MTHFR Posted on: Jun 22, 2011 at 1:14pm
how have they been repairing the cervix? a simple leep procedure done at the beginning of any FET should be fine that can be done in 2 seconds in an office, Ive done that many times. I get back all my results usually in 2 weeks. I dont want to recommend something to "do" as it could be the wrong thing, and yet aggressive treatment could be the difference in a successful transfer.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.
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