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3 risks came up 20 wk scan

nicole08709nicole08709 member
in High-Risk Pregnancy
Dilated fetal kidneys, and two measurements - head (measuring bigger) and femur I believe (measuring shorter)so with those 3 components together there's a risk of downs syndrome. I'm 20 weeks now, we met with a genetic councilor yesterday and I took a blood test that will take 7-10 days to get back to see if it's negative or positive looking for chromosome 21 (downs) .  Pretty shocking and scary stuff to be faced with. I am looking for support or anyone that can relate at all with any of this. It's between my husband and I right now so it's been weighing on me.  Of course they say there is a small chance and everything can resolve on its own. I have a follow up 28 wk ultrasound to check on the kidneys , that's not until April 11th.  Just the waiting game is what is tough and not knowing what's going on. 

I'm 29, we have a 100% healthy 3 yr old son who when I was pregnant with the only concern was the Dilated fetal kidney which is common in boys and most of the time goes away on its own. And I had 2 hi risk visits/ ultrasounds with that pregnancy and by 28wks it resolved. So that's a relief because they said sometimes if you have it once in pregnancy for the next  (and were having another boy)it can come up again. 

Any other groups that anyone can recommend for this would be great and appreciated too.  Thank you.

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Re: 3 risks came up 20 wk scan

  • sqfibemomsqfibemom member
    My son has a diagnosed syndrome but in utero we saw his CHD, dilated kidneys, and that he was large. I also had polyhydramnios. I know the wait for the amnio results is terrifying so I hope it ends soon and in a positive way. My amnio came back negative for everything because they only test for DS and a handful of other syndromes in the amnio. I'm glad you're talking to a genetic counselor, hopefully they'll be able to help you weigh all of your options.
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  • Knottie1441332069Knottie1441332069 member
    At my 20 week scan they sent us to a specialist because all of our baby boys long bones were short (2-5th percentile short - already 4 weeks behind at 19 weeks). The specialist then said the nuchal fold was thick, his head was measuring large, all long bones were very short, and he had a club foot. So he told us down syndrome would be our best case scenario, but we were most likely looking at trisomy 13 or 18. So we did the amnio to confirm. Amnio ended up coming back completely clear - so our LO has no chromosomal defects. We are still possibly looking at a skeletal dysplasia  (possibly dwarfism), but chances are now we have a perfectly healthy boy with a club foot. It was agonizing going through those 2 weeks thinking we were going to lose our baby, or that he had a serious chromosomal defect, all based on some soft markers. So think positive - they can really have all those markers and it not be anything. 
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  • nicole08709nicole08709 member
    Thanks ladies.  I opted for the blood test that checks for D.S. compared to the invasive amnio. I always looked forward to the ultrasounds and seeing baby now it's nerve wrecking because something could be wrong. I can't imagine hearing all those "soft markers" my goodness I'm so sorry. I'm so glad your baby is looking great by you getting tests done. What a relief. 
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  • rklinge0rklinge0 member
    If you want happy stories on down syndrome, I can help. We had one soft marker ( mild fluid on brain) which showed up in 3rd trimester and once it fixed itself another popped up( that was the short long bones). The one that is definitely noticeable is short long bones. My Dd is almost 2 and reaching most of her milestones on the latter end but usually within the spectrum. Also everywhere she goes she brightens up the room and adults and children gravitate towards her. 
    If your little one does have t21, local community support is great and these families are some of the nicest people you will ever meet. There is also down syndrome diagnosis network that could help. 


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  • Knottie1441332069Knottie1441332069 member
    Just remember that the blood test is not a diagnostic test. All a blood test will tell you is if you are at a higher risk - the amnio or CVS are the only ones that are diagnostic. Yes, they are definitely more invasive and depending on what the screenings show may not be needed for.you - but don't take the blood take the blood test results as being 100% definitive. 
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