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June 2017 Moms
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High risk for Downs

bigj4bigj4 member
edited January 2017 in June 2017 Moms
I just saw my OB today I had my nucheal ultrasound and bloodwork done a few weeks ago. The dr is sending me for an anatomy ultrasound scan in 2 weeks because he said the bloodwork came back showing my baby has a higher risk of downs syndrome. I'm freaking out about this now because of course every single thought is running through my mind. Has anyone been in a similar situation?? First baby and I'm about 16 weeks along..
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Re: High risk for Downs

  • c1tym0m22c1tym0m22 member
    I was indeed in a similar boat - I had Maternti21 done simultaneously with my NT scan and so it was a painful week of waiting for results (which came back negative) after getting some not great odds from the NT/bloodwork combo. 

    One question - the anatomy scan won't give a definitive diagnosis. Did you consider CVS or an amnio? Both of those will be conclusive (and yes, invasive). 

    Hang in there!
    Me 37, DH 40
    BFP #1 6/13 DD 3/14
    Mirena 10/14-5/16
    BFP #2 9/2/16, CP confirmed 9/8/16
    BFP #3 10/10/16 EDD 6/22/17
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  • bigj4bigj4 member
    I didn't think to ask my dr about those tests. Always think of questions after the fact! I might ask my family dr about it. 
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  • silliegirlie143silliegirlie143 member
    My sister got the high marker for Downs results on her NIPT. She had the amino done and it was good news. Her DD is just fine. There is definitely a chance that everything is fine. 
    The waiting is the hardest part...
    Hang in there!!



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  • anitamargarita_82anitamargarita_82 member
    I had a test come back for something as well.  I was told the CVS tests the cells from the placenta and may not be accurate if your placenta has issues.    I had an amniocentesis to find out what was really going on.   The waiting is hard.   But if you have the amniocentesis you can also get a FISH test that will give you answers within 48-72 hours with a 98% accuracy rate of whether or not your baby has downs. FISH tests for the trisomys, downs, and Turners.  
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  • brooklynmama718brooklynmama718 member
    bigj4 said:
    I just saw my OB today I had my nucheal ultrasound and bloodwork done a few weeks ago. The dr is sending me for an anatomy ultrasound scan in 2 weeks because he said the bloodwork came back showing my baby has a higher risk of downs syndrome. I'm freaking out about this now because of course every single thought is running through my mind. Has anyone been in a similar situation?? First baby and I'm about 16 weeks along..
    You need to get the amniocentesis to confirm. I'm sure your doctor knows about this test. I think you might be too late for cvs. Get amniocentesis for sure. 
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  • bigj4bigj4 member
    I found out that my nuchal measurement was 2.26mm which from what I read is normal range. Hoping that my dr is just being extra careful. After my level 2 ultrasound I should know more about whether or not an amniocentesis is recommended. I think if he was very concerned he would have sent me for one right away
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  • anitamargarita_82anitamargarita_82 member
    @bigj4 doctors will only do an amniocentesis after a certain week period.  I had to have one and had to wait for my baby to get to a certain size otherwise they don't get enough of the babies cells in the amniotic fluid.  Either way it's your decision to have one or not. 
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  • bigj4bigj4 member
    Finally recieved a phonecall regarding my appt. I'm scheduled for genetic counselling with a possible amnio immediatly afterwards. I told the lady on the phone that it was my understanding that this appt would be a level 2 ultrasound. She said no that they already have my 12 week ultrasound results and a level 2 cant be done until 19 weeks. I thought I wasnt stressed out until now. I think Id rather have an amnio done after a level 2 ultrasound to look for other markers first. 
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  • anitamargarita_82anitamargarita_82 member
    I don't know what a level 2 ultrasound is?  The amino isn't really that bad.... the worst part is the fear leading up to it.  It's not really painful at all.  Just stressful to think about.  I was grateful for the peace of mind it brought though from the results.  Are they going to do the FISH test with it as well?
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  • soontobemrsdavissoontobemrsdavis member
    edited January 2017
    We had two different results. AFP showed increased risk, but informaseq and the NT scan showed no increased risk at all. We met with a genetic counselor and based on our conversation we decided not to do Amnio. Good luck with whatever you decide! Those two weeks before my genetic appointment were the longest two weeks ever!

    ~Declare it..Claim it..It will be!!~

    5/9/09
    Lilypie - Personal picture 

    Here We Go Again!!

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  • Poppy2014Poppy2014 member
    I failed my screens and the doctor said it was due to advanced maternal age and the way the statistics are calculated.  To be on the safe side and because I wanted to know for sure to be prepared we did an Amnio in December and it came back fine.  The only thing I will say is that having the information has helped reduce my worry and stress and the Amnio wasn't as bad as people say.  Good luck on your decision.
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