Trouble TTC

*TW* Ladies w/ mthfr gene mutation - what circumstances led you to find out you have it?

cl86cl86 member
edited December 2018 in Trouble TTC
Hi ladies,

For those of you ladies who have been diagnosed with an MTHFR gene mutation, what were the circumstances that led you to discover that you had it? I would like to be proactive in finding out whether I have it, but I don't know if I'm being unreasonable in requesting testing for it when my RE doesn't seem too concerned that I have it.

Just for some background info, I joined this forum a little over a month ago when I found out I was pregnant, *TW* but unfortunately, I suffered a miscarriage shortly thereafter at about 6 weeks. I may have suffered an additional chemical pregnancy or two during the two years we've been TTC (I suspect based on my symptoms, but I didn't test, so I can't be sure). I recently revisited my RE after taking a year-long break from fertility treatments. The pregnancy we lost last month was actually conceived completely naturally, but I wanted to return to the RE to do some additional testing in case it could shed any light on why I may have miscarried (although I know it's entirely possible that it was just a chromosomal defect that couldn't be helped). My doctor didn't tell me exactly what type of blood tests she would run, just that she was going to check for some potential blood clotting issues. I looked over the lab requests she submitted on the office's online portal, and it appears that she requested a bunch of different tests, but none of them are for MTHFR. From what she said, I assumed an MTHFR test would be one of the tests she would request from the lab, so I didn't specifically ask for it by name (and I assumed she knows better than I do whether a test is appropriate). Now I'm wondering if I should call the office and specifically ask for the MTHFR test. 

Now I'm curious how others found out they have the MTHFR gene mutation...

Re: *TW* Ladies w/ mthfr gene mutation - what circumstances led you to find out you have it?

  • Options
    I discovered I have MTHFR last month. After two miscarriages, my doctor ordered genetic testing. Unless your doctor orders a full genetic screening, you may not be tested for this mutation. 
  • Options
    I am in the middle of looking for a new doctor, partially because of MTHFR testing. I was supposed to have it done along with other blood work. However, the doctor never gave me the results from the MTHFR. TW*I was pushing for it after two miscarriages. *End TW I just asked what we could do to be proactive because I didn't want to risk having another. 
    Me: 30 DH: 35
    Married 12/2014
    TTC#1: 4/2017

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