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  1. #1
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    Default First Trimester Sceening- Advice needed!! High risk of Trisomy 18 or Trimsomy 21

    Please help!! Has anyone been in the same position as me?? What was the outcome??I had my 12 week scan last Thursday 30/06/2016 and had a phone call from my Ob yesterday wanting me to go in for an appointment to discuss results... Unfortunately I have been told I am at high risk of the baby having Trisomy 21 (down syndrome) or Trisomy 18.. The risk ratio they have given me is 1:220They have given me this risk due to the nasal bone not well ossified (developed). The Nuchal appears a little thickened measuring 2.5mm. The PAPP-A result is also on the low side being 0.33.I had the blood test today for the Harmony Test and expect to get results back by this time next week.. If it comes back positive I will then be referred to a specialist in Adelaide or Melbourne for an Amniocentesis.Has anyone all 3 things abnormal like me?? What was the outcome??
    Last edited by kayla888; 05-07-2016 at 15:52.

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    Hi. When pregnant with ds2 my blood results came back as high risk for Trisomy 13, 18 and 21, the ratio for 2 of those were lower than yours, trisomy 18 was 1:18. I was very worried. My scan was fine though. I also had low pappa a. I had the CVS and results came back all good.
    I had regular scans in the 3rd trimester to monitor ds's growth due to the low pappa a, there were no issues. Ds2 is now 5.
    Try not to worry so much, easier said than done I know. Thinking of you.

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    Thinking of u. Mine were fine, but they did say the nipt/harmony was really more accurate so if it's good a sigh of relief... If u search I think there's other threads here of ladies with similar issues plenty of whom turned out all ok, so obviously get tests done but try not to panic yet....

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    havent been through this but wanted to give

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    Hi Kayla. Can I suggest going to Josee's Journey of Love, Hope and Faith and sending a msg to the admin. Her name is Joelle her daughter has t21 (as does mine) and she often talks to mums after high risk screening. She also runs prenatal support groups. She may be able to link you to other mothers. Any questions also feel free to email me on megansmith_21@hotmail.com. I am happy to chat any time.
    Megan

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    Essa234  (04-02-2018)

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    There are lots of good outcomes- your risk is not that high though I know it's scary. Try to think of it as less than 0.5%.

    Mine was 1:7 of T21. I had low PAPP-a of 0.29 and enlarged nuchal of 3.4mm with my DS. The nasal bone was fine. I had a CVS and all was normal. I did have problems with placenta function later, which was thought to be the cause of my test results, so they will keep a close eye on that with growth scans etc. Many people have no issues at all though, hope your results are good.

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    Thinking if you in this stressful time. I had a downs risk of 1:45 and a low PAPP-a of 0.21 and I had a healthy bub 3.0kg at 36 weeks. I hope your results are all clear

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    Quote Originally Posted by kayla888 View Post
    Please help!! Has anyone been in the same position as me?? What was the outcome??I had my 12 week scan last Thursday 30/06/2016 and had a phone call from my Ob yesterday wanting me to go in for an appointment to discuss results... Unfortunately I have been told I am at high risk of the baby having Trisomy 21 (down syndrome) or Trisomy 18.. The risk ratio they have given me is 1:220They have given me this risk due to the nasal bone not well ossified (developed). The Nuchal appears a little thickened measuring 2.5mm. The PAPP-A result is also on the low side being 0.33.I had the blood test today for the Harmony Test and expect to get results back by this time next week.. If it comes back positive I will then be referred to a specialist in Adelaide or Melbourne for an Amniocentesis.Has anyone all 3 things abnormal like me?? What was the outcome??
    I’ve just learnt it in the same boat... but with even higher nuchal- 3.2mm, 1.8 HCG & 0.8 papp-a...

    About to read through your thread & gain some insight

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    Default Tests.

    I had the same as you..try not to panic.

    It was 5 years ago they didnt do harmony.

    I did an amnio at 16 or 18 weeks ..everything was ok.

    But i remember i was stressed

    Now they do Harmony tests from 12 or 10 weeks. You may not need to do an amnio.

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    Quote Originally Posted by Butterfly Baby View Post
    I had the same as you..try not to panic.

    It was 5 years ago they didnt do harmony.

    I did an amnio at 16 or 18 weeks ..everything was ok.

    But i remember i was stressed

    Now they do Harmony tests from 12 or 10 weeks. You may not need to do an amnio.
    I opted to do the Harmony on Friday, so now we’re just awaiting results. Feeling a lot calmer today thankfully, after two days of constant tears and panic attacks.

    If Harmony comes back as 1:100 or better than those odds were just going to leave it & hope for the best. If it comes back high risk still we will opt for amnio at 16 weeks, hoping it doesn’t come to that though.


 

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