info overload

So today, here is what I found out from my doctor.

I am "compound heterozygous" for the MTHFR genetic mutations C677T and A1298C.

I also carry the PAI (-675) 4g/5g genotype.


What does all this mean? Well, at minimum, it means I am at higher risk for clotting disorders throughout my life, and at higher risk in pregnancy for various venous and bloodflow-related problems. How much higher risk?

Well, that's where the info seems to vary some. Dr. Google has led me to a boatload of medical research on this topic, and it appears that research on these clotting mutations is exploding in recent years, and a lot of doctors aren't yet keeping up with the latest. The research makes it pretty clear that these mutations, especially in combinations like I have, put you at much higher risk for miscarriage. Despite this, a lot of doctors aren't yet familiar with their role in miscarriage.

What's less clear is just how strong the link is between these genetic issues and other pregnancy complications, like IUGR, placental problems, HEELP and preeclampsia. I never had any of these problems in previous pregnancies, but now, after reading all this info, I am worried. My perinatologist seems to think this is basically a situation where I need to be treated as a high risk pregnancy, and monitored every two weeks with ultrasounds, etc. He said he would definitely recommend giving birth in a hospital, not at home or at the birth center.

Lots to mull over.


Anonymous said...

Uh oh, looks like your child will suffer from male pattern baldness.

TN Girl said...

Am I the only one who reads that as motherf&#$er genetic mutations?

Stefaneener said...

Well, my perinatologist also wanted me to give birth in a surgical suite because of clotting issues, but when I came out to the top doc in the country, he said they were pregnancy and not birth issues. . .

Covering Asses

Jon said...

Am I the only one who reads that as motherf&#$er genetic mutations?


clara said...

I feel for you, the good news is those clotting disorders are pretty treatable these days. I can relate, I went from unassisted pregnancy & homebirth to a weekly ultrasound & hospital birth because of rh sensitization. Its not easy, but we`re pulling for you out here in the blog world.

Anonymous said...

I suffered from preeclampsia, HELLP syndrome in 3 of my 4 pregnancies. My 3rd baby was born at 26 weeks and died after 9 days. So when I got pregnant with my last, my OB had me take Heparin twice a day for the duration of my pregnancy. I had to do monthly u/s too, although it was so cool to see him! My son was born at 33 weeks when I started getting preeclampsia/HELLP and spent 2 weeks in the NICU. He was small but otherwise fine and I do believe that the blood thinners bought him time to grow.

Best wishes.

Anonymous said...

I was told by my NYC OB that once a woman is over the age of 37 the pregnancy was always considered to be high risk,although this was 10 years ago.I played it safe and had my child in a hospital with a highly regarded neonatal unit-just in case.I am glad that I did because I would never have been able to handle the Catholic guilt, that I have so lovingly been ingrained with, if something had gone wrong.All went well and it was a very nice experience.I had peace of mind knowing that I was where my baby needed to be for her own sake.Keep in mind that different can also be good.Best of luck...

Clisby said...

I can see why that could make the pregnancy high-risk, but why would it make the birth high-risk?

HELLP and pre-eclampsia can result in the need for a C-section, which would be done in a hospital; but assuming you get to term OK, why would the birth center be out?

On the other hand, I'm not a doctor.


Cousin Julie said...

I'm so sorry for the stress and the scary-sounding acronyms. It does sound like your doctor is on top of things, though, which is great. And I, also, from the first time I saw that clump of letters, can't help but read it as the motherf$@*#&r gene.

And thank you for fixing the pic on Ward's site, and posting about it here. :)

Sarada said...

I've never heard of a perionatologist who wouldn't recommend a woman give birth in a hospital. High risk specialists see everyone as high risk.

What exactly are all these ultrasounds going to prevent? What complications do they anticipate occuring? If you have a full term pregnancy, what problems would they cause at delivery?

I had a lot of bleeding early one pregnancy, and my doctor wanted to do all sorts of tests and ultrasounds. When I asked more questions, he ended up admitting that if I was going to miscarry, there wasn't anything they could do about it. So I decided to forgo all the pointless interventions.

I'm not suggesting you make the same decision. Just make sure you ask a lot of questions.

Leslie said...

I'm sure you'll be doing all kinds of research, but I just want to chime in and agree with Clisby and Sandra. Obviously these perinatologists are geared toward hospital birth. And there are certainly worse things than hospital birth, but I have a feeling that if you let these docs get you into the hospital, you won't have just any hospital birth--it will be a highly medicalized, monitored, intervention-full experience that could start you down that slippery slope to a section.

Of course, if your research shows that this is what it takes to get a healthy baby, then so be it.

Have you ever looked at the Usenet pregnancy newsgroup? I have hung out there off and on for the past several years and there are some really smart and well-informed women there who also happen to be pro-natural birth whenever possible, and some of them are very research-savvy as well; I'd encourage you to post about your diagnosis there and see if any of them know anything.

Anonymous said...

geez. you people are S T U P I D. What does it take to make you realize that this is high risk? AND that it is something they do not know even close to everything about. So you want this woman to buck everything her doctor says and risk her baby just so she can have a home birth? Stupidity reigns. I dont even think Katie herself is THAT stupid.

Clisby said...

I think it would be lovely to live in a world where it was S M A R T to accept a doctor's advice without question. Unfortunately, that would be some other world.