[lex1078]

I went and got my test results from the Dr. cause I figured I would need them for the fertility specialist next week. I also got all of my medical records from when I started going to this Dr. just in case.

I am POSITIVE FOR TWO COPIES OF THE A1298C MUTATION.

This makes me homozygous and I really don't know where it takes me when I'm pregnant. Please share your knowledge ladies!!! This is exactly what it says on the report:

DNA testing indicates this individual is homozygous for the A1298C mutation and does not have the C677T mutation. The presence of the A1298C mutation without the C677T mutation has not been associated with an increased risk for hyperhomocysteinemia or vascular diseases. Consider genetic counseling and DNA testing for at-risk family members.

I've tried reading stuff online, but I just seem confused from it all. I do plan on calling the Dr. on Monday for some answers.

Next thing, My loss in April was due to Trisomy 16. The baby was a boy. My loss in July '09 was from Trisomy 22 and the report doesn't state the gender. I wish it did, but I can't go back now. Is it common to have losses due to different Trisomies? I know I've read online women having multiple losses due to the same Trisomy but don't recall seeing anything about different Trisomies.

Any and all input is greatly appreciated!!! TIA!!!

[Kary♥RN]

Stephanie.. that is what I have... If you want any info.. let me know!!!!

As for the Trisomny... I was told by my Dr.. it was just bad luck... bad egg/sperm combo...

First off.. with just the MTHFR mutation you have, You should get you homocysteine levels checked. If they are normal... YOU, have no higher risk for a blood clot.... BUT... they do not know if your developing placenta will acquire blood clots. So that is why with this mutation they only suggest a baby aspirin. IF you have more than just the MTHFR mutation (ie: Elevated homocysteine level, another factor mutation ect).. than Lovenox or heparin might be the way to go.

With MTHFR, there are two different genes identified for this mutation, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous." The MTHFR gene mutation has varying degrees of possible implications. The order of potential severity from most to least is:

1. C677T & C677T (Two C Copies - C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
3. C677T (One C Copy - C677T Heterozygous)
4. A1298C & A1298C (Two A Copies - A1298C Homozygous)
5. A1298C (One A Copy - A1298C Heterozygous)

The MTHFR mutation is fairly common in the general population. Approximately 44% of the population is heterozygous and another approximate 12% are homozygous for the MTHFR mutation. Compound heterozygous and homozygous MTHFR have the highest incidences of being linked to implantation failure, late term miscarriages, specific birth defects and overall vascular health. Whichever type of MTHFR you have, it should not be discounted, particularly if there is a personal or family history of any such incidences.

What Are the Implications?
Any and all of the 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 medical complications. Many other MTHFR patients have normal homocysteine levels; yet have had implantation problems, miscarriages, and/or stillbirth(s) due to clotting problems. So it is important to find out what your Homocysteine levels are (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. Research shows that high homocysteine levels and/or those with the mutation show a higher propensity for thrombosis (blood clots), arteriosclerosis (hardening of arteries), Alzheimer's, stroke, heart attack, Fibromyalgia, migraines (especially with "Aura" migraines), osteoporotic fractures, bone marrow disorders and for those of child bearing years, it has found to be connected to higher incidences of down's syndrome, spina bifida, other neural tube defects, trisomy, miscarriage, stillbirth, implantation failure, placental abruption, preeclampsia, higher incidences of autism, amongst others. Additionally, if you test positive you may want to have your parents, siblings, and any children you may already have tested, as well.
There are a few positives to this disorder. Because folate is necessary for cellular division, there is support that shows having this disorder can actually help keep certain types of cancer cells from multiplying as rapidly, so there are some benefits from having this mutation.


Here are some links I go to look up info...

MTHFR - Methylene-Tetra-Hydro-Folate-Reductase

MTHFR as a Miscarriage Cause - Why Doctors Disagree Over Testing for MTHFR in Recurrent Miscarriages

ObGyn/Pregnancy issues: MTHFR, factor v leiden, heparin therapy

MTHFR - Symptoms, Treatments and Resources for MTHFR

MTHFR

MTHFR Forum


If you have any questions.. please do not hesitate to ask... Hope everything goes well!!!

XOXO Kary

I also started a Group on JM... Thrombophilias- Blood Clotting Disorders- TTC and Pregnancy - JustMommies Message Boards

[zkat]

Stephanie,

I don't know anything about the statistics on trisomy losses. I am homo for the same mutation. Kary's info was the best out there and I learned a lot from it. You might request a referral to a hematologist, especially since you have a second trimester loss.

It is great that you finally get some answers. I am so sorry that you have had to deal with so much pain in order to get them.

Kat.

[lex1078]

Thanks so much for the info Kary & Kat!! I really appreciate it!

I actually went through the paperwork again with DH and we learned that the m/c in July of '09 was a girl. So that helps with closure all around.

[AliciaF]

Is Trisomy a neural tube defect?

I am hetero C677T MTHFR but that is the lesser of my 2 clotting disorders.

MTHFR inhibits the body's ability to absorb folic acid which can lead to neural tube defects and as it raises the homocysteine levels in the blood it can lead to blood clots and recurrent pregnancy loss.

Many doctors will recommend Lovenox during pregnancy if you are either homo or compound hetero MTHFR.

I know it can be hard to hear but this is actually a GOOD thing. At least they found something they can fix. Usually taking a much higher amount of folic acid (like 3,000-4,000mcg instead of the normal 800) and sometimes Lovenox if necessary will be the needed difference.

I lost Clark and then had 3 miscarriages before conceiving Cammie. The very first cycle that I took extra folic acid and the Lovenox resulted in a wonderfully perfect baby girl.

This is GOOD.

[lex1078]

Originally Posted by AliciaF

Is Trisomy a neural tube defect?

I am hetero C677T MTHFR but that is the lesser of my 2 clotting disorders.

MTHFR inhibits the body's ability to absorb folic acid which can lead to neural tube defects and as it raises the homocysteine levels in the blood it can lead to blood clots and recurrent pregnancy loss.

Many doctors will recommend Lovenox during pregnancy if you are either homo or compound hetero MTHFR.

I know it can be hard to hear but this is actually a GOOD thing. At least they found something they can fix. Usually taking a much higher amount of folic acid (like 3,000-4,000mcg instead of the normal 800) and sometimes Lovenox if necessary will be the needed difference.

I lost Clark and then had 3 miscarriages before conceiving Cammie. The very first cycle that I took extra folic acid and the Lovenox resulted in a wonderfully perfect baby girl.

This is GOOD.

Thank you for the information Alicia! I really do appreciate it.

Couple of questions: When did you start taking the Lovenox? Was it when you found out you were pregnant or did you start taking it before?

[AliciaF]

I started taking it before and that was the key for me. Most docs will recommend starting Lovenox either as soon as you get a BFP or when you see a heartbeat. I was getting my BFP and then losing the baby within days.

I started my Lovenox at 3dpo. It can be hard to find a doc willing to do that, I was lucky that my OB allowed it...

[zkat]

Stephanie, I started Lovenox from my BFP, since my miscarriage was 7 weeks. The hematolgist gave me a script to fill as soon as I tested. I was on baby aspirin from 3 dpo to BFP.

Kat

[AliciaF]

My regimen was folic acid, B12, B6, baby aspirin, Lovenox and Prometrium.

I took the folic acid, B12, B6 and baby aspirin throughout my cycle and started the Lovenox and Prometrium at 3dpo.

[Kary♥RN]

What clotting factors do you other ladies have... Depending on What other mutations and or elevations you have depends on the treatment once you get your BFP.

[AliciaF]

I have hetero MTHFR and antiphospholipid syndrome.