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Intermediate result for FRAGILE X... Terrified

louisabjohnsonlouisabjohnson member
in 2nd Trimester
Hi there, I just got a call from my doc telling me that my bloodwork came back and everything is good except I got an intermediate result for fragile X, and I'm so confused as to what that means. I didn't ask any questions and now that I have a million questions his office is closed. He says I have to see a genetic counselor but can't get an appointment for another week, and I just can't wait because I'm about to have a heart attack. My doc said "don't think of this as bad news" but how can I not? There's nothing in my family or my husbands that we know of, my sister just gave birth at 37 and she tested negative. This is my first pregnancy, no miscarriages, and I'm 30 and healthy. Please, if anyone knows anything, please help me. I've been crying all day. I feel alone and scared.
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Re: Intermediate result for FRAGILE X... Terrified

  • StormiewinterStormiewinter member
    I'm sorry you are going through this. I have never had, this but I know that screening results don't mean anything is for sure, just that you have an abnormally. They will take your lab results and the genetic counselor will look at it more closely and be able to tell you odds etc. Fragile x is a gene anomaly, it can happen to anyone and doesn't necessarily have to "run" in your family. sending posaitive thoughts your way.
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  • lawbebe1176lawbebe1176 member
    I'm so sorry you're going through this! I don't have a ton of knowledge on fragile x, but I know that no matter what, a call from your doctor about a chromosomal issue is always going to be scary. Try to calm down and just breathe. More likely than not, your baby will be 100% fine. Also, the doc saying this wasn't bad news is a good sign--most of them won't say that unless they really mean it. Take deep breaths and try to be as calm as possible until you see the genetic counselor. You aren't alone--I'm rooting for you! Keep us updated! Enjoy your evening with LO.
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  • tripledaggerWed95976tripledaggerWed95976 member
    So sorry you got such upsetting news- just know that just because it showed up in your screening, doesn't mean your baby for sure has it. here is an excellent resource on fragile x syndrome if you wanted to read about it https://ghr.nlm.nih.gov/condition/fragile-x-syndrome you're in my prayers
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