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March 2013 Moms
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Bad genetic results

shanncon@me.comshanncon@me.com
in March 2013 Moms

Hi everyone- 

I am new to this board! A friend of mine mentioned how helpful it was when she was pregnant- so here it goes.

My pregnancy was uneventful until I was screened for SMA-Spinal Muscular Atrophy. I came back as a carrier so my husband and I were sent to genetic counseling where he was tested and we decided on having an amnio which was performed last Friday. The amnio was fine. Nothing really to mention. Just some slight cramping and still a few days later, but nothing really terrible. We decided on the amnio because without it we cannot know for sure if the baby is affected and this would change things for my husband and myself. I do not know anyone else who has gone through this so I am just reaching out to see if anyone else is experiencing some tough times during pregnancy and how they are handling it.

It's difficult because hearing news that your baby could have a life threading disease just takes you right off cloud nine! It has really thrown my husband and I threw a loop. If anyone has had similar experiences I would love to hear how your family coped. We have a long way to go as the results for the SMA test take 4-5 weeks! So it's safe to say I will be uneasy until then. Thanks for any info anyone has.  

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Re: Bad genetic results

  • Sarai28Sarai28
    I don't have any experience, but I pray that the next few weeks fly for you and your husband, that your worry doesn't overwhelm you, and that you have wonderful results and a healthy baby!
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  • AnissaBrownAnissaBrown member

    Is your husband a carrier too?

     

    I'm also a carrier for SMA, but my husband isn't. Since he is not, there was no reason for us to do the amino. (Or so we think)

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  • Rdomb1107Rdomb1107 member
    I received some bad genetic news as well and went for a CVS. I won't get the results for another two weeks.

    Our results will also play a role in deciding the next steps in our pregnancy.

    Finding out and testing and waiting has been the hardest time of my life especially not knowing if my LO has been effected.

    Message me if you want to talk.
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  • Haribo1Haribo1
    I know how terrifying, heartbreaking and anxiety ridden this period is.  We also had a bad NT scan result (measured 4.5) and with my blood work and age, our baby was put at a risk of 1:5 for a chromosomal abnormality.  I had my CVS today and am waiting for rapid FISH results on Wednesday and all results in a week.  To  make matters worse, even with a normal CVS, our baby is still at risk for anatomic abnormalities.  I completely understand how you feel, the sadness of there being anything wrong with your baby, and the fear of the unknown.  Lots and lots of hugs being sent your way.  The waiting is awful.
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  • denison2denison2 member

    I'm a pediatric physical therapist. I don't know about your genetic risk but I do know about SMA. With SMA please keep in mind there are 3 "types" but it is really a spectrum. Type 1 will die in infancy unless they are supported on a ventilator which leaves them paralyzed but cognitively intact, to the extent that a child who cannot interact with the world actively is cognitively intact. I do personally know children as old as 8 years old who have survived like this. They communicate with an eye gaze device or occasionally have maybe one functional movement that allows them to communicate. Type 2 do not walk but can often live independently with powered mobility and are generally just weak. Type 3 do walk but are weak and can't participate in all physical activity like other children. A big thing to remember is that these children are perfectly cognitively normal. There is nothing wrong with their brains. 

    I did find this link that is helpful. https://andysarmy.com/what-you-need-to-know-about-sma-carrier-testing

    Short story: If both you and your husband are carriers you have a 1 in 4 chance of having a child with one of the above types of SMA. 

    My little boy: 3/8/13
    Baby #2 due 8/17/17 
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  • velocitygrlvelocitygrl
    We also had a questionable NT scan (3.4) so we did a CVS the Thursday before labor day. It was terrifying waiting for the results, and thinking about what a bad result would mean. I really hope you get good results. We got good news, and it was a huge relief, but even if the results had been bad I would still have wanted to know.  Hugs and good luck!
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