Chit Chat

Genetic Testing

So this is the year of "HOLY SHIT!"  We're getting married this year (holy shit!) and we're going to start trying for a spawn this year (HOLY SHIT!).  Which means we're going to go through genetic testing.  FI may carry the gene for Marfan syndrome, so we want to make sure that any spawn will be healthy.  A good friend of ours has a baby with a rare genetic disorder (she can't process fat into energy), and both parents had to be carriers, inspiring us to go through testing.  The baby is a miracle, she was not supposed to make it through the night, then past a few weeks, then six months... she just turned one.  On top of that, she was supposed to be mentally and physically disabled, but she has hit all of her mental milestones, and is now able to sit up on her own.  Really a miracle baby, modern medicine is rad.

Here's the thing, though.  I may carry the breast cancer gene.  My half-sister had it at 35, and carries the gene.  Our paternal grandmother passed away from it.  I'm not sure what to think if I do carry it.  Having the gene does not mean I will get breast cancer, and my lady doctor is already putting me on an early screening regime because of my half-sister's age when she got it.  I'll be freaking out about any positive result though, not just for the breast cancer gene but who knows what else.

Did any of you ladies go through genetic testing?  How did you deal with any results?  It's really cool we can do this testing, but at the same time, it seems like just enough information to be dangerous.
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Re: Genetic Testing

  • I've never had genetic testing.  It's just something I'm not interested in knowing.      








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  • If I had family history like you and your Fi, I would get the testing because I always feel like it's better to know, even if it's bad news.  Especially if you can do something about it, like early monitoring for breast cancer, or adopt if you are both Marfan carriers.  I don't know how I'd handle the news though if it isn't good.  :-/
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  • I think if DH or I were possibly carrying a gene that could be a serious issue we would have done this.   When we had both kids, I did the blood test that screened for potential issues but did not do anything further than that.   It was nerve-wracking when they told me that my AFP levels were 2.5x the mean when pregnant with DD so I was at an elevated risk for spinal and neural tube defects.   I had to be monitored twice a week starting at 32 weeks and was induced at 39 wks 5 days.   Everything is fine but I think it's important to understand that some tests have a margin of error. 
  • I haven't had it but applaud you for doing so. I think it would be hard finding out bad news but definitely a responsible thing to so if you're trying for a kid. 

    Good luck!
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  • We all have the BRCA genes. . .they are tumor suppressor genes. People who have harmful mutations in the BRCA1 or BRCA2 genes have an increased chance of developing breast cancer. The question is whether or not you have the mutation, and I hope that you do not!

    I wish you the best of luck going into your testing, and once you get your results your doctor will discuss them with you and may refer you to a genetic counselor. Do your best to try not to worry about worse case scenarios just yet.

    Good luck hun!

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  • larrygagalarrygaga member
    2500 Comments 500 Love Its First Anniversary First Answer
    edited January 2015
    lyndausvi said:

    I've never had genetic testing.  It's just something I'm not interested in knowing.      



    This.
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  • I was tested for the cystic fibrosis carrier gene before we started trying, and was negative. That's all though... not really interested in knowing most of the other stuff. I feel like paranoia would be more dangerous to my life than most gene mutations.

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  • Thank you for the well-wishes!  The more targeted testing like @lolo883 mentioned is a really good idea.  I really don't want to know about the other stuff.  The worrying is why I have such an issue with it.

    Also, @larrygaga I just cannot stop watching your siggy gif.  I just can't.  
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  • I just had my first trimester screening done a little over a week ago.  Prior we never had any genetic testing done.  It was very nerve wracking to meet with a genetic counselor just to go over family history.  Thankfully our tests came back within range.  Apparently this testing is very controversial and some people opt not to do it. (If numbers come back high some doctor's may suggest abortion) 

    H and I decided that we would rather know and plan for challenges that could be ahead.  I see nothing wrong with testing as much as you want.  Just don't let it drive you crazy and remember that the tests are not 100% accurate.

    Good Luck!


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  • V and I have talked about this. If we decide to have kids we will get these tests and decide from there. We both have bad genes so if our future kid would have a hard life we would decide not to have one. Its a peace of mind thing for us.

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  • My sister had a baby die right after birth because he was born with Fryns syndrome.  So yeah, esp with our ages, I would want all testing done and screenings possible.  I would rather have the knowledge so I can make any decisions that need to be considered.
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  • If I were going to have kids (too late for that) I would want the genetic testing, insofar as affecting a child.

    But for just me and my husband, I will take my chances, just like humans for eons have.


  • FI and i when we are ready will take our chances. doing the tests would depress me.
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  • edited June 2015
  • I have had a screening test done, because my H is half Ashkenazi Jew, which, due to intermarriage of that ethnic group, carry risks of certain genetic disorders. It's only really a risk if you both have Ashkenazi heritage, but sometimes you can miss something in your family tree, so they recommended I get tested, just in case. The tests all came back fine.

    I also did what's called sequential testing for Down's and Trisomy 18. Those numbers came back with very low odds. Granted, we did this after I became surprise pregnant, so it would just be a tool to know what we were dealing with.

    I did just read an article that called into question the accuracy of these tests. They are not regulated by the FDA, and while many claim over 99% accuracy, the real numbers MAY be closer to 50 or 60%. I'm not saying this is true or isn't, but just something to keep in mind. Also remember that these are SCREENING tests. They are not tests that will tell you what IS GOING to happen, just give you an idea of your risk factors.
  • I did the "normal" 1st tri testing (CF & trisomies) but that was the extent of it. Are you talking about more than the standard test and considering genetic counseling? I don't have any first hand experience with it, but have a good friend who is a GC and I've always been fascinated with the process. I'd say if you go that route to make sure you see someone certified by the ABGC. Regardless of what you decide, best of luck!
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  • CMGragainCMGragain member
    10000 Comments 500 Love Its Fourth Anniversary 25 Answers
    edited January 2015
    Nobody can guarantee you a perfect baby.  The only things that genetic testing will do is to alert you to watch ff certain symptoms.  I knew that severe depression runs in my family, and I was able to spot it in my son and get him help.  My daughter doesn't have it.
    I have stage 4 breast cancer.  I'll be 64 in four weeks, and I've had a great life.  I'm planning to enjoy every minute I have.  Headed for an exotic cruise this weekend.  Woo-hoo! 
    Life is full of speed bumps.  Even if you are genetically free from inherited disease, that doesn't mean you will get perfectly healthy children.  My son acquired his severe ADD and Tourette's at birth.  Nothing to do with heredity.  Best wishes.  Do what you think is best for you.
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  • lovesclimbinglovesclimbing member
    Seventh Anniversary 2500 Comments 500 Love Its First Answer
    edited January 2015
    We probably won't. Neither of us and none of our family have any genetic issues that we know of.
  • H and I aren't sure what we want to do about kids.  We say we don't want them.  But we joke around about "our future kids".  FIL had ALS.  No one will be upfront on whether or not it was caused by the Gulf War or if it was genetic.  H has thought about getting tested, but everytime he thinks of it it brings him grief.
    I'm not sure what we would do if it came down to whether or not we would get screened.
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  • We did genetic testing during the first trimester of our pregnancy. We did the typical first trimester screen for chromosome disorders, as well as additional testing of me of like 75 other potential diseases. Our view was that it was better to be prepared and know what could come up and prepare accordingly as compared to be surprised. 

    These are simply screening tests and don't guarantee a diagnosis, but they can alert you at an early stage to a potential problem. 

    While you can never know 100% of the issues that may affect your baby ahead of time, our view was that we wanted to be as informed as possible on what we could be. 
  • I didn't with my first two, because I didn't know any better, but if we have any children in the future, I will. Neither H nor I know much (or anything, in my case) about our fathers and any possible genetic issues there, and I don't like being unprepared.

    I am not super concerned about the results, though. If I find out something that makes me believe H and I shouldn't have kids, we just won't. Simple as that. Of course I know that it isn't that easy to write off for some people,
  • FI and I haven't discussed it, and probably won't for a while, since we're not TTC for a couple years yet. We don't know anything about his dad, but as far as we know we have nothing to be overly concerned about from his mom's side, or either of my parents' sides. I'm not sure the unknown of his dad's side is enough to make me want to get it done.
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