DS scare - 19 weeks

Discussion in 'Gestational Complications' started by jpsona, Mar 30, 2011.

  1. jpsona

    jpsona New Member

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    My wife and I were called in to our doc's office last week to discuss the results of our triple screen. Turns out my wife (who is 30 y/o) tested high for one of the markers (not sure which, or even whether it was just one) and as a result the likelihood of Down Syndrome rose to 1 in 274. This caused us to panic quite a bit - we knew in our heads that those are still very good odds, but just the fact that something was abnormal and that a special visit to the doc to review the results was necessary threw us for a bit of a loop.

    We were referred to a specialist for a higher quality ultrasound. We met with her yesterday, and the (19 week) ultrasound showed a few more markers for DS: an echogenic focus in the heart, a shortened femur, and a short nasal bone. We were expecting good news from this visit, but instead our odds rose sharply to 1 in 5.

    She had an amnio done this morning, and we're awaiting the results on pins and needles. We both find it hard to believe that there is a 4 in 5 chance that our baby is DS-free - we've pretty much resigned to the fact that the fetus has DS and that we have some tough times ahead (whether that includes termination or keeping the baby).

    This is our second pregnancy. Our 2-year old son also had an echogenic focus in his heart but it never amounted to anything. He is healthy today and currently keeping us sane.

    Can anyone offer any advice or coping strategies for our situation? I'm trying not to think too far ahead (e.g. what do we do if/when we get the bad news?) but it's quite difficult. Has anyone been in this situation with relatively high odds and ended up giving birth to a healthy baby without DS?
     
  2. mafiamom

    mafiamom Well-Known Member

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    i just want you to know that i had a one:five chance that my baby would have trisomy 18 (incompatible with life). i had the amnio and everything came back 100% perfect!

    the waiting for the results is the worst part :( gl, and i hope your results come back with good news.
     
  3. AuntBug

    AuntBug Mom of one, expecting #2

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    I'm right there with you. My baby girl has shortened long bones and I had higher risk with blood work. I also have a single umbilical artery, a possible marker for trisomy 13 and 18. I have an amnio tomorrow. I just keep trying to visualize my healthy baby girl, hard as it may be :hugs:
     
  4. midori1999

    midori1999 Well-Known Member

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    I can't offer any advice on getting a high risk result, in the three pregnancies I had the screening I came back very low risk. However, despite that, at age 27 I had my third son, who was born with Downs Syndrome. Had I known when I was pregnant I'm not sure what decision I would have made, but I now know that I would have made a decision on what I percieved DS to be, not what it actually is.

    My son is wonderful, he was a very easy baby and now at 7 he is equally easy and delightful. He has a great sense of humour and not a day goes past where he doesn't make us laugh. His older brothers, especially my now 15 year old, my eldest, completely adore him and he idolises them. I have since remarried, so my husband is not my sons' father, but he too adores my boys and we have since been trying for a baby with many losses (lost 5 babies including a late loss of twins, they have now found I have a blood clotting problem that may have caused this, treating it and now 26 weeks with baby no6 for us) We have declined any testing for Downs as we don't need to know and it wouldn't matter to us one bit.
     
  5. AuntBug

    AuntBug Mom of one, expecting #2

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    Just wanted to update, we got our amnio result back and NO abnormalities were found! We're so relieved :D

    Good luck jpsona.
     
  6. babyboo1258

    babyboo1258 Well-Known Member

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  7. mafiamom

    mafiamom Well-Known Member

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    great news!!! so happy for you :)
     
  8. xxClaire_24xx

    xxClaire_24xx mum of 2 gorgeous girls

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    Hi at our 20 week scan it showed Ellie was very very small and they thought that she didnt have the cerebellum in her brain so we were sent for much detailed scan in the fetal medicine unit at another hospital. The scan showed that all her brain was there but she was still very small and her femurs too showed they were very short so they advised us to have an amnio and the 4 possible reasons for Ellie being so small could have been

    1. Edwards syndrome, chromosome 18
    2. Patau syndrome, chromosome 13
    3. I passed on a viral infection
    4. IUGR due to a placenta problem

    We were told it waqs likely to be a chromosome problem but after 2 long weeks the results came back and showed all was fine and also another week later there was no sign of viral infection so we were told to hang it out and have a scan every fri and also fetal monitoring every mon and fri from week 23 all went well except Ellie still continued o be very samll and also my water virtually disappered and she was stuck ihead down in a flexed postion got to week 30 and we had scans and fetal monitoring every mon fri

    Got to week 33 and on the 5th Nov the scan showed that the blood flow was dipping from placenta to Ellie she was delivered next day and spent 3 weeks in high dependancy and 4 in special care and is now a very happy 5 month ol (3 month corrected) a few health problems bu nothing major

    my bloods showed I was 1 in 10 for DS xx
     
  9. xxClaire_24xx

    xxClaire_24xx mum of 2 gorgeous girls

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    fab news now you can enjoy your bump xx:hugs:
     
  10. jpsona

    jpsona New Member

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    I'll also post an update - our results came back normal as well! Quite a relief.

    What an emotional and enlightening week that was. We learned so much: about Down's and about ourselves.
     
  11. AuntBug

    AuntBug Mom of one, expecting #2

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    So happy to hear your good news! :happydance:
     
  12. xxClaire_24xx

    xxClaire_24xx mum of 2 gorgeous girls

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    aw fantastic its funny how something like this opens your mind to a whole new area of life xx
     

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