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  1. #1
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    Default nt scan results high risk for trisomy 18

    Hi There,

    So I'm looking for support and stories from people who have been through a similar experience to me. Today I had my nt scan and the scan was fantastic bub was all normal, active, well formed and fluid only measured 1.3ml on back of neck. My husband and I were over the moon as we waited for what we assumed would be a straightforward debrief on the combined results from the genetic counsellor. We were so shocked when she told us that our blood results were extremely abnormally low on both counts of Papp-A and Free beta-hcg and as a result we were a high risk for a trisomy 18 baby (edwards disease). She has advised further testing and we have decided to go with an amnio because i can't have cvs safely because of the positioning of my uterus, however I have to wait 3 whole weeks to have the amnio because I'm too early for it and then another 2 weeks for the results! I am completely freaking out and don't know whether it is warranted? my risk is 1:276 which still isn't awful but I just feel sick to my stomach about the possibility of my child having such a severe chromosomal abnormality that doctors would suggest abortion of the pregnancy. This is not how I expected to be feeling after the scan today and I am just absolutely shattered. Appreciate the sharing of any similar stories

  2. #2
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    I don't know how you must be feeling. but just try and keep your chin up until the test results come back.

  3. #3
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    Hi mumma bear

    Sorry to hear of your worries! I too have just found out today that my NT blood tests showed a risk for down syndrome at 1:330, which is much higher for someone of my age (27). We are freaking out too! I am really NOT keen on any invasive testing and I am hoping it just means more in depth ultrasounds. We were so happy with the way baby looked and even the measurement of the nuchal was perfect, I can't believe there might be something to worry about. Let us know what happens with your further testing. Fingers crossed for both our babies!

  4. #4
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    Hi,

    I came up with high risk from NT for DS. 1/250.. Same as you,, blood results were crap. We went for Amnio. We did not want to take chance with extra risk for having CVS. I know how you are feeling. I cried for days. The wait was awful. We went for quick result which we got next day before 5 pm. We paid $400 for that. If you could pay extra, I would do that.

    Do your research on where you go for amnio. The risk rate depends big time on who does Amnio for you.Teh bonus, It will tell you gender if you want to know.

    And there is a light at the end of tunnel. I am 28 weeks now. Just started my third trimester yesterday. I saw my baby girl today. All healthy and kicking around! Good luck to you.

  5. #5
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    Hi Mummabear1405,

    I had my 12-week scan this week and like you had low HCG and low PAPP-A levels. My risk for Edwards is 1:3. They also found "suspicious" results with the right hand and no nasal bone. I couldn't get the CVS this week because of a retroverted uterus. I'm scheduled to try again on Monday.

    I'm a basket case. The doctor said that even if CVS comes back negating all trisomies, there is still something wrong with the placenta since my levels are so low it barely looks like I'm pregnant. The baby rolled around during the scan so I never would have guessed something was wrong.

    Please keep us posted on how things turn out. I'm very grateful for this website and people's willingness to share their stories.

  6. #6
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    leajones22 is offline Just when the caterpillar thought the world was over, it became a butterfly
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    When I had my 12 week scan everything looked great nuchal measurement was small, but a couple of weeks later I got a phone call from my ob and to me that is never a good sign (unfortunately I wasn't home when he rang and by the time I got his message his office was closed, luckily I had an appointment the next morning). Dh and I went and saw him the next day and found out what I had been panicking about since the phone call was true, that we had tested high risk for downs. We decided to book an amnio as it was already borderline for the cvs cut off. But the 3 week wait was doing my head in, I felt stressed and anxious and couldn't think straight. Dh and I talked lots and decided not to get the amnio and place trust in the fact that our 12 week scan measurement was great and bubs nasal bone was aparrent. Since making the decision not to test it was like a huge weight had been lifted from my shoulders and I began to relax.

    2 weeks ago we had our 20 week scan and along with redoing measurements for downs we have other genetic conditions that we need to have looked for as well, we have one very stubborn bubs that did not want to move it's face out of my bladder so we could get all the measurements, it took over an hour but we got them all and bubs looks perfect, everything was as it should be, nasal bone, all 3 bones in the little fingers, stomach, heart and nuchal fold all good. So now our risk has been halved but it is still no guareentee that bubs wont have downs, but that is ok.

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    I hope a few more ladies will join with their stories.
    I had my NT scan done 2+ weeks ago and got a 1.77 skinfold and all else measuring perfect. Unfortunately I was really stressed that day and babies heartrate was 181bpm.
    I received results and both T21 and T18 were in the thousands but T13 was 1:320. Talking with FS he came to the conclusion that my elevated heart rate due to stress or nervous is what raised his little heartrate.
    I want to have another scan when I am calm to see if his HR is high all the time or just when I am stressed. (I dont feel pregnant, so thats worrying in itself.) Unfortunately I cant.... even the midwives wont use a doppler as they say its too early.
    I am scheduled for my next scan at 18weeks... I am 14w4d now and GP/OB appt at 19w. (I dont think I am getting the best care after 12months IVF treatment......)

    Good luck to everyone with these concerning results I hope we all come out with happy healthy babies.
    xxxmel

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    We received a 1/23 result for down syndrome with DS2. It was horrible. I was 12 + 5 so they couldn't get the CVS done in time which meant waiting until 15 weeks for amnio. It was the longest wait of my life. We were given the option to pay $200 to get results 48 hours after amnio however the doc said he would waive that fee for us. Results came back negative and DS is now a 11 week old joy. Good luck, I know the pain and stress is unbearable.

    Oh and I had only just turned 31 when my risk came back so high.

  9. #9
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    We had an amnio at 16 weeks, I didn't want the cvs. The wait was awful but I'm so glad we had it done. I would have just worried the whole time. Plus we got to find out what we were having which because I was so keen to know, it gave me something pleasant to think about while going through the test.
    We are with a midwife and she booked the test for us so it cost us nothing and the results came back the next day with no extra fee involved (although a friend of mine had one done not long before us and they had to pay $800 for the test and next day results because they're with an ob... Amazing how the price changes)
    They also rang me 2 weeks later with the final results as the next day ones are just preliminary. I was sure everything was going to be ok but I knew I'd worry alot more if I didn't just have it checked.

    This is my last child but if I had more and was high risk I'd do the test again in a second. It wasn't as bad as I thought and gave me what I needed to know to put it out of my mind for the rest of my pregnancy.
    Last edited by NightStar; 09-07-2011 at 07:19.

  10. #10
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    1/37 risk for DS here yet all turned out well. Just remember it is only a risk factor and most people with similar results will go on to have a normal bub. The mental stuff surrounding the process is awful but the procedure itself was in reality far less traumatic than a dental visit for me. Sometimes a bad blood result can be an indicator of an early birth. Not sure if that is high or low blood results but I am sure Google will help with research on that. Good luck.


 

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