MTHFR Birth Defects.....?

Breeze

10 Posts
Reply Posted on: Mar 26, 2015 at 9:16am
Hi Dr. B, I posted this question to you on Tuesday but never saw a response...I was just curious if being compound heterozygous for MTFR can cause non-spinal birth defects?
I did IVF in Dec 2013 with intralpids, heparin, humira and rx Folic due to mtfhr and Elevated cytoknes....we got pregnant but at 20 weeks we found out my son had situs inversus, complete av canal defect and duodenal artesia, he was chromosomally normal. Pregnancy ended at 23 weeks.

Me: 29 5'6 135lbs (27 at the time of IVF), compound hetero MTHFR, hypothyroid, mild psoriasis, endometriosis. One miscarriage with ex-boyfriend w/3 years of "unexplained infertility" he had great swimmers ...my husband has non-obstructive azoo so donor sperm was used.
TNF 36.8
IFN 37.5

Dr. Braverman

2026 Posts
RE: MTHFR Birth Defects.....? Posted on: Mar 26, 2015 at 10:02am
I am not aware of any relationship between MTHFR and citus inversus and duodenal atresia . I always wonder how your medicaitons you were prescibed were justified with minimal amounts of immune data. It might serve you well to contact me for a full immune profile and a diagnois , you have quite a bit of immune history.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

Breeze

10 Posts
Reply RE: MTHFR Birth Defects.....? Posted on: Mar 26, 2015 at 10:12am
Thanks for your respone. I do have a phone consult set up with you on April 22nd. I also have 7 frozen embryos but we are understandably pretty scared to try again. As far as protocol, my clininc -did- get me pregnant (with twins but lost one at 8wks) so that was good and makes me want to do the same protocol again but I do wonder if the Humria could have caused his issues as well?
I just did 2 injections of Humira 40mg. They said I didnt need more than that and the intralipids I did every 4 weeks until 12 weeks and heparin until 12 weeks.

Dr. Braverman

2026 Posts
RE: MTHFR Birth Defects.....? Posted on: Mar 26, 2015 at 10:14am
Ok we will discuss all when I see you . The dose of Humira should be decided based on diagnosis and level of serum cytokines . Sometimes the 40mg shots do not work and patients need a loading dose that is higher. I do not bleeive the Humira caused your isses however.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

Dr. Braverman

2026 Posts
RE: MTHFR Birth Defects.....? Posted on: Mar 26, 2015 at 10:14am
Ok we will discuss all when I see you . The dose of Humira should be decided based on diagnosis and level of serum cytokines . Sometimes the 40mg shots do not work and patients need a loading dose that is higher. I do not bleeive the Humira caused your isses however.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.