Friday

MTHFR

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 (miscarriagem 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.

Thanks!

Katie

21 comments:

clara said...

Babycenter actually has excellent high risk boards. I don't know if you take lovenox, but they have a big lovenox board for all the clotting disorders including MTHFR, & it does have some birth stories. If anything, you could ask questions of the hundreds of women who post there. They also have a list of links.
http://boards.babycenter.com/n/pfx/forum.aspx?tsn=1&nav=messages&webtag=bcus6675&tid=437

Anonymous said...

honestly doctor, hopspital, machines that go beep..
I know women gave birth for years without them but why risk something if you don't have to?

Anonymous said...

(Long time reader here) My brother is a perinatologist who specializes in genetic issues. I e-mailed him your question. Here is his reply-

Any woman diagnosed with this gene mutation needs to be seen by a high risk OB throughout pregnancy. She should deliver in a hospital and be monitored closely during labor and delivery. Essentially this woman has a clotting disorder and even the tiniest clot in the placenta or umbilical cord can cause major problems. Clots can develop or arise at any time, but are more likely to arise during the stress of childbirthj. Careful monitoring will catch any problems. She is also at higher risk for placental abruption, which can kill her and her baby. Her doctor cannot put percentages on these risks, but they are very real and she would be risking her life if she gave birth outside of a good hospital with a doctor experienced in caring for women with specific genetic issue. She should be seen every 2 weeks throughout pregnancy and will likely have more ultrasounds to make sure the placenta and umbilical cord look healthy and good. I sincerely hope she will not risk her life or her baby's life by giving birth outside a hospital. I fully support midwives and as you know, Miriam and I had Will with the midwives at the birth center, but this woman is fooling herself if she thinks she is not high risk. I would be surprised if a birth center would take a patient with the MTHFR mutations as a patient.

Jenny said...

well, I guess that pretty much takes care of it.

Good luck and be well.

Anonymous said...

Doctors want to label every woman "high risk."

Trust your body

Anonymous said...

Personally, I wouldn't take the chance of delivering anywhere else.
It comes down to what is most important to you: your control over the birth or a possibly unhealthy baby? What if, god forbid something went horribly wrong during labor and they couldn't transfer you in time to save your baby? Or possibly even you? Could you live with the consequences? Could Jon?

Anonymous said...

Last anonymous...that's exactly what happened last week to a woman I work with. Problems occuring during a home delivery caused her child to be born with severe brain damage. He died two days later. She had had a normal pregnancy until that point, and no problems with the baby had been detected during gestation.

Michelle said...

I suppose another way to search for info would be to consult with the most experienced midwives of your area. Ask whether they take on clients with the mutation, or whether it would 'risk them out' of midwifery care. If they do not consider it high-risk, dig deeper and find out what they know quantifiably about the risk, and how they would monitor and react to any of the mentioned possible complications.
I could ask the midwives here, but of course their practice guidelines are likely different than yours...
I really hope you can have the birth you want, Katie, no matter where you choose to have your baby!

Anonymous said...

"Risk of thromboembolism was increased because of medical practices such as operative (cesarean or instrument-assisted) delivery, prescription of prolonged bed rest after delivery, and use of estrogens to suppress lactation."

Just an interesting tidbit I found while searching.

Katie, don't let the hospital crowd pressure you into doing something that's uncomfortable for you and don't let the natural birth side make you a martyr. No matter what you decide, the main goal is always to deliver a healthy baby as safely as possible. As a longtime reader, I'm sure you'll make a well-informed choice, and I wish you the best in doing so.

*~Cheri~*

Anonymous said...

Did anyone else think that was an abbreviation for something else when they first saw the title? ;-)

Anonymous said...

I have heard that a birthing center will not take women who are considered high risk - maybe because of potential litigation? - so this may be a moot point?

Anonymous said...

Talk to the midwives. They are the only ones who could anwser your specific question honestly.

Anonymous said...

Talk to the midwives. They are the only ones who could anwser your specific question honestly.

Anonymous said...

Be safe-it's just not worth it.

Anonymous said...

Warning-pg loss and general pg horror mentioned...

I also have a pro-coagulant disorder (Protein C deficiency) that has caused me grief ONLY in pg. 1st pg, when I was super fit (ie. ran or swam daily up 'til week 17 when I had a huge subchorionic hemorrhage), ended in Class I HELLP. Fortunately, my baby and I survived, unlike many, many other mothers and babies born in these conditions. My healthcare provider assured me that this was a fluke, that HELLP only happened in our city with obese/drug addicted mothers. I ate organic food, looked like the picture of health, fer cryin' out loud. Okay then. Fast forward 2 1/2 years and DH and I were thrilled to be pg again. Pretty textbook pg, and at 20 weeks, our provider could not find a heartbeat anymore. Our loved baby had died at 18 weeks. I got to choose between a D&E or induction on the saddest day of my life. Our first son had his skin tested and his chromosomes were normal. Now, I wanted answers. And I found a great MFM who helped me. You already have your answer. My terrific MFM put me on Lovenox (week 8) for my next pg and I gave birth to a healthy baby 30 weeks later (though baby had cord issues and the placenta looked hellacious). Then, DH and I decided to try again (at FORTY) and wonderfully got pg. We're living in a different city but I called my former MFM who urged me to get care ASAP since new protocols had been developed for women with thrombophilias. I started Lovenox as soon as we saw baby's heartbeat (fetal pole). I now have a lovely third child, born without intervention, pitocin, epidural, forceps, etc. in a hospital, with a doula present. It was a marvelous birth.

I guess I'm urging you to be careful with your body and your baby. Thrombophilia is not a 'lightweight' condition, especially during pg. There is a huge choice here, and the stakes are so high.

I'd be happy to go into details of Lovenox/heparin dosing I've had if you want.

PS I'm your shy fan, who e-mailed you recently about Zofran.

Anonymous said...

You have the motherfucker mutation? What is that?

Elizabeth said...

I think you should discuss it with the midwives. Birth centers are very careful...maybe a little too careful about what risks they bring in. If they will take you, you should be just fine to birth there.

Leslie said...

Katie,

I posted your question on the Usenet Pregnancy Newsgroup. which is, as far as I am concerned, THE place to find out what you need to know about any pregnancy issue. There have been three replies so far, including one from a doctor whom I have "known" there for six years, and who is not a pro-interventionist. I can tell you how to get to the discussion or I could email you all the answers that are there--just let me know.

Leslie

katie allison granju said...

Leslie-

Yes and yes! And thanks. Can you direct me to the discussion?

Katie

Leslie said...

Katie,

You can get there through Google Groups (misc.kids.pregnancy). Or whatever server you're on may have a better way to access Newsgroups than that--it's pretty clunky but is all I can do on AOL. Let me know if you have trouble.

Leslie

Anonymous said...

I can't believe you would even consider giving birth in any place but a hospital given your medical condition.