April 2015 Moms

NT Scan for Down Syndrome

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Re: NT Scan for Down Syndrome

  • What everyone else said. Hope you get some answers soon.
  • Hugs, T&P, and FX for good news.
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  • I am so sorry you are going through this. My friend was told the same thing when she was pregnant with her son and she had so much anxiety through all the further testing she went through. In the end everything wound up being OK and she now has a very healthy 4 y/o.

    I hope it all works out and LO is OK.
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  • T&Ps for good news!
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  • I'm actually in a situation like yours. I did the regular NT bloodwork at first which came back to me having the chance of a Down syndrome baby to be 1 in 12 chance at age 20. I did the informaSEQ blood test for more testing and that is a test done by labcorb. Thoughts and prayers for you. 
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  • Thank you. My thoughts and prayers are with you too. Hopefully we both get good results!!
  • I'm in the same unknown place too. A little different in that the ultrasound was not an issue but the bloodwork said I was at a higher risk of trisomy 13 and 18. I had the harmony testing  (cell free DNA) done before the results but it came back inconclusive so we redid the blood work again. If you did the blood draw for the NT testing then be aware it will just give you a risk factor based on x,y,z. Mine specifically is based on my age (33) and the low level of papp-a. I was freaking out when they first told me but after talking to my midwife about the actual risks I realized there was a lot to not be worried about. I did some research too, specifically really liked the website genetics made easy. It really broke things down and explained how they come to the conclusions they do. It laid out the good and bad. 

    I hope you get some definitive answers soon and it comes back completely normal. The anxiety is awful.
    DX: MFI and RPL
    C born 29/11/10- became an angel 12/04/11 
    R born 11/10/12
    12 pregnancy losses. 
  • Hugs to you. Hope everything turns out ok and you get some answers soon.

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    Always in my heart: BFP 9/6/12 - M/C 9/25/12
  • Sending thoughts and prayers your way. I just received a positive screen for Trisomy 18 and am awaiting an amnio in 2 weeks, so I so feel your pain. Hope everything is ok!
  • lbw1977 said:

    Sending thoughts and prayers your way. I just received a positive screen for Trisomy 18 and am awaiting an amnio in 2 weeks, so I so feel your pain. Hope everything is ok!

    I am so so sorry. Keep me posted on how your doing. Or if you need someone to take to feel free to message me. Your in my prayers.
  • As some previous posters mentioned, definitely request a blood test. They took a small amount blood at my NT scan, which was said to be 85% accurate by my genetics doctor, compared to the NT scan which he said was 90%. It's definitely worth having this done as there are no additional risks (unlike an amnio).

    Wishing you the best!

    Thank you!!! They took my blood that day to test for that and trisomy 18,13 and Turner syndrome. I wish I knew the name of the blood test they did. I called this morning and left a message for them to call me. I also want to know the mm of the fluid they found.
  • I'm so sorry you're going through this - scary stuff.

    Just wanted to share an uplifting story: my best friend was told when she was 16 weeks that her DS would most likely have downs (I forget the numbers they gave her) but back when she was pregnant there was no blood test like maternit21 or harmony. Baby kept moving during the amino, so she said forget it - I'm not terminating anyway so just let him be. He was born happy and healthy and is now a super cute healthy energetic 2 1/2 year old.

    Also, I had the maternit21 test done 2 weeks ago - I called 6 business days later to check and see if they had results and they did.

    Try to hang in there, positive vibes and prayers coming your way.
  • Doctor just called me back and it was the Materni21 blood test and the b*•+@h did not measure the fluid on the babys neck. Ugh.
  • HZ2012 said:

    I'm so sorry you're going through this - scary stuff.

    Just wanted to share an uplifting story: my best friend was told when she was 16 weeks that her DS would most likely have downs (I forget the numbers they gave her) but back when she was pregnant there was no blood test like maternit21 or harmony. Baby kept moving during the amino, so she said forget it - I'm not terminating anyway so just let him be. He was born happy and healthy and is now a super cute healthy energetic 2 1/2 year old.

    Also, I had the maternit21 test done 2 weeks ago - I called 6 business days later to check and see if they had results and they did.

    Try to hang in there, positive vibes and prayers coming your way.

    Thank you so much!
  • AnnaInman said:
    Doctor just called me back and it was the Materni21 blood test and the b*•+@h did not measure the fluid on the babys neck. Ugh.
    Well it's good that they did the Materni21 test already but WTF tech? How do you know measure the fluid? It was an NT ultrasound right?
    DX: MFI and RPL
    C born 29/11/10- became an angel 12/04/11 
    R born 11/10/12
    12 pregnancy losses. 
  • inawe07 said:


    AnnaInman said:

    Doctor just called me back and it was the Materni21 blood test and the b*•+@h did not measure the fluid on the babys neck. Ugh.

    Well it's good that they did the Materni21 test already but WTF tech? How do you know measure the fluid? It was an NT ultrasound right?
    That wasn't even the tech! That was the doctor!! Yes it was. My OB called me back and I told her my experience and she was upset and is sending me to another high risk doctor for another opinion. This doctor could of even checked the nasal bone. Most DS babies have no visible bone on the scan. Did she do that? NO. I attached a picture of our baby so you can see the bone.
    Hopefully it downloads.
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  • I am so sorry you are going through this. I'm sure it is very stressful and the fact that your doctors aren't communicating properly is causing more stress. I hope you get more answers soon, and everything is okay. Hugs!
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  • There are other far less invasive tests you can have other than amnio and cvs. The Verify test is cell free DNA (or something like that) and it's 99% reliable. I had the NT last week - did they explain how it works? They compare the measurement if the fluid with you blood test and age. Through that they get a reliability of 80%. If the baby is missing the nasal bone I think it goes up to 90%. But again - these are just tests and nothing is 100% reliable. If you don't like your dr - I encourage you to find one you do like. And I hope everything is okay with you and your baby.
  • I am so sorry! I really hope everything turns out to be okay. Sending prayers your way
  • I'm so sorry you are experiencing this. You will be in my thoughts and prayers.

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  • There are other far less invasive tests you can have other than amnio and cvs. The Verify test is cell free DNA (or something like that) and it's 99% reliable. I had the NT last week - did they explain how it works? They compare the measurement if the fluid with you blood test and age. Through that they get a reliability of 80%. If the baby is missing the nasal bone I think it goes up to 90%. But again - these are just tests and nothing is 100% reliable. If you don't like your dr - I encourage you to find one you do like. And I hope everything is okay with you and your baby.

    We did the Materni21 blood test just waiting on those results. It's a really good test. The stupid specialist didn't even look at the nasal bone and you can clearly see the nasal bone in the sonogram. My OB said she's not having me go back there. She was upset that this lady didn't do what all she should have. So she is getting with another high risk specialist so I can get a second opinion.
  • That's crazy that they can't tell you the NT measurement. How did they decide it was high if they didn't measure/record it? Having seen the nasal bone is a good sign. Hoping and praying this turns out to be just a scare.

    The nurse said to me.. "She said she didn't measure she just had to look at it." Really lady!!!! The measurement is pretty freaking important. I'm thinking blood work is going to come back good. Thank you!!
  • My husband and I are going through the same situation right now. Over 2 weeks ago we for the call from perintology that there was excess fluid behind the baby's neck, and I believe my blood work for the first trimester screening showed something too.
    We went in 10 days ago to perintology, they did the ultrasound and measurements. We met with a genetic counselor first, and our chance of this baby having Down Syndrome was 1/26. After the ultrasound, it went to 1/5, as well as the possibility of Turners Syndrome and even possibility Congenital Heart issues.
    They did blood work, and said we'd hear in 7-10 days. It's been 10 days. It's so hard to not think about things. It's hard when you want to connect with your growing belly, but are scared of what the outcome could possibly be.
    I wish you lots of luck and prayers. It's hard to believe these things can even happen. Try to stay busy, and positive. I hope you hear results soon, whatever the outcome will be. I know firsthand how hard waiting is. Best of luck!
  • Hi AnnaInman - and thanks for sharing about your situation. As I read your post, it reminded me of my pregnancy, as well. Waiting for the result was really hard and scary. Thank God, he was completely alright. I hope everything goes well with you, friend. Prayers and Hugs!

    -Pugsmum

  • AnnaInmanAnnaInman member
    edited October 2014
    I go to another high risk doctor on Monday for a second NT scan since the other doctor didn't do all of what she should have.
  • I got the bloodwork done on Tues, Quest actually does it now which my insurance covers. The midwife was initially going to do it through Verifi. Apparently the blood test is very accurate and can be followed up by amnio to confirm should you get a positive result for anything. I was told I may not get my results for up to 2.5 weeks though! This waiting game sucks. I hope turns out well for you.
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  • I got the bloodwork done on Tues, Quest actually does it now which my insurance covers. The midwife was initially going to do it through Verifi. Apparently the blood test is very accurate and can be followed up by amnio to confirm should you get a positive result for anything. I was told I may not get my results for up to 2.5 weeks though! This waiting game sucks. I hope turns out well for you.

    Ugh 2.5 weeks is so long. I'm hoping for good results for you and me both! Keep me updated as I will you!! Fingers crossed!
  • My LO was diagnosed at 14 weeks with Turner's Syndrome and then they made me wait for 2 weeks for an ultrasound. WORST 2 WEEKS OF MY LIFE!!!  I went through all the symptoms and complications and information I could get my hands on because I had no idea what else to do.  From what I read, the fluid sacks can go down with time, they might want to do regular ultrasounds to monitor that.  I know that this is terrible, I have been there for the last two weeks.  For me, I needed to write down all of my questions before the appt and write all the answers down so that I could wrap my mind around it afterwards.  Best of luck to you, I hope it's resolvable.  
  • My LO was diagnosed at 14 weeks with Turner's Syndrome and then they made me wait for 2 weeks for an ultrasound. WORST 2 WEEKS OF MY LIFE!!!  I went through all the symptoms and complications and information I could get my hands on because I had no idea what else to do.  From what I read, the fluid sacks can go down with time, they might want to do regular ultrasounds to monitor that.  I know that this is terrible, I have been there for the last two weeks.  For me, I needed to write down all of my questions before the appt and write all the answers down so that I could wrap my mind around it afterwards.  Best of luck to you, I hope it's resolvable.  

    It's so difficult. We should get our blood results in this week and went to another specialist today and she said it doesn't look good. Waiting 2wks for a check up ultrasound to see if fluid has gone down.
  • Went to get our 2nd opinion today. There is actually fluid all around the baby which is not good. There was a little over 9.0mm of the fluid around the neck. She said that if our Materni21 comes back with any abnormalities that the baby prob won't survive with there being so much fluid and it would be best to terminate. So we go back in 2 wks again and see if any of the fluid is dissipating and make a decision from blood and next scan. The original reason we got sent to the high rush doctor was for my marker for Cysic Fibrosis and my husbands blood came back and he does not have a marker for it. So we are good there.
  • What a roller coaster for you! Good that you've gotten another doc and the other test coming in soon. My t&ps are with you!
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  • I'm so sorry!!

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  • Thank you. We're trying to keep our head up and stay as positive as we can.
  • I'm so sorry to hear this. T&P and hugs to you.
  • Thoughts and prayers for you during this time. It's so nerve racking waiting for answers. I hope everything gets better and that baby will be healthy. 
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  • Thinking of you and hoping everything turns out well! Sorry for your anxiety! Xo!
  • Sending so many Ts and Ps

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  • I never went through this, im so sorry :( x
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