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Old 12-17-2011, 02:47 PM   #1
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Bad NT scan results...should I get a second opinion?

Hi,

Against my better judgment, I went through with the NT scan and blood test. The nuchal fold measured 3.2--and the perinatologist said anything over 2.5 is abnormal. Combined with my bloodwork, my risk for a child with Down Syndrome rose to 1 in 11!!! I am baffled! I understand that the NT measurement is high, but some are MUCH higher. Here is the data from the test:

Maternal age 34
Scan done at 12w5d
Baby measured 13w4d
Heart rate 152
All four chambers of heart normal
Nasal bone present
No other suspicious markers

Bloodwork showed hCG in 80th percentile (still considered normal, but factored in because it's above the 50th percentile) and PAPP-A slightly below 50th percentile (but also within normal range)

I am aware of the false positive rate and that these numbers could ultimately mean nothing, but I am scared sick. My baby is a week ahead of gestational age and the circulatory system is all good at this point. How could my risk be SO high?

Your insights are appreciated! Thanks!

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Old 12-17-2011, 02:52 PM   #2
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First:deep breath!

I am no expert so I have no concrete evidence for you but I do have two friends go through this exact same thing. The first one was told this twice in two separate pregnancies but both babies were healthy and happy. My second friend has a beautiful baby boy with downs. You are correct, the results have a high false positive risk. Honestly I would be freaking out as well but I would go through the secondary tests just so that I could have peace of mind or be prepared.

You will be in my thoughts and prayers mama!!!!
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Old 12-17-2011, 02:53 PM   #3
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Re: Bad NT scan results...should I get a second opinion?

did they reschedule you with a level II u/s? that's what they did with me when DD's results came back 1:32.

we saw the genetic councelor too and she went over what "markers" to look for and did a history on us.

the level II u/s didn't show any markers for downs so that upped our chance to 1:300 (or something like that).

I did have a nice chat with my ob and she said she had a patient that results came back 1:4! and baby was born perfectly! And that she had another patient with a 1:1000 and baby was born with downs.

we have decided that if we do ever get pregnant again and it sticks we are never going to do that test again.

it put too much stress on me and dh.
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Old 12-18-2011, 05:07 AM   #4
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I am scheduled for another u/s at 16 weeks. But the genetics counselor said that even if everything looks normal then and at the 18-week anatomy scan, my risk would only decrease by half, so a 1/20 chance. I just feel like a number now. With my first DD, I had I one u/s my entire pregnancy and everything was perfect. I should have known that if I started buying into this whole medical/statistical approach, I'd be playing with fire.

Guess it's too late now...

Thanks for your replies!
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Old 12-18-2011, 08:29 AM   #5
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Re: Bad NT scan results...should I get a second opinion?

Something that might make you feel better...95% of DS cases DON'T have a nasal bone present. That's a statistic I found when I was doing some research!

Sorry that I can't be much more help!!
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Old 12-18-2011, 10:50 AM   #6
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Re: Bad NT scan results...should I get a second opinion?

The only thing that's going to give an absolute answer is an amnio. They are done at 14 weeks generally. If you aren't interested in terminating, then I would just do the u/s as scheduled and try not to worry too much about it since other things looked good

If you would terminate if 100% sure of downs, then get the amnio.
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Old 12-18-2011, 01:34 PM   #7
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The risk they have quoted you is just that -- a risk. Even on those numbers, the overwhelming likelihood is that baby does not have Down Syndrome. Any screening you do is going to have two risks -- that a baby tht has an issue is not caught by screening (false negative), and that a baby that does not have an issue presents as possibly having one (false positive). Like many medical screens, this one is set so as to minimize the false negatives, so the tradeoff is a higher false positive rate.

I had a screen come back with a 1:15 chance of Down Syndrome. That was high enough for me personally to do an amnio. I got a lot of flack to the effect of "how can you do that," but, for me, the risk of miscarriage with a provider who conducts amnios daily in a top research university was small, and the amount of anxiety I felt was too high to imagine doing 24 weeks of it (a friend of mine had a Down Syndrome baby and felt the same way with her next pregnancy--she had an amnio even though she knew she would never terminate). I had the FISH test and knew within 24 hours that baby did not have Down Syndrome.

ETA: Amnios actually generally are done between 15 and 20 weeks.
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Old 12-18-2011, 02:20 PM   #8
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Re: Bad NT scan results...should I get a second opinion?

Thanks for all of your feedback and support. I know intellectually that these are just odds and mean nothing in themselves...but emotionally that logic isn't sinking in.:/

I am torn about doing an amnio. Just as there has to be that "1" in X that has a chromosomally abnormal baby, there has to be that "1" that has complications from amnio or CVS. I have been looking into the new blood test that has just started being offered in 20 cities by a private lab called Sequenom--and my city happens to be one of them. It's a non-invasive blood test that is 99% accurate at identifying Down's in a fetus. It does not identify other chromosomal abnormalities (yet), but my risk for T13/18 is 1/5000 or something, so I'm not as concerned about that. Has anyone else had this done? Other tests of this nature are under way, so invasive testing procedures may soon be a thing of the past. Also, I could have it done now, rather than waiting three weeks for an amnio.
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Old 12-18-2011, 03:39 PM   #9
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Re: Bad NT scan results...should I get a second opinion?

just wanted to offer hugs.
I know it's just a chance, but once someones tells you a #, it's hard to not dwell on the what ifs!
I wish you the best!
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Old 12-18-2011, 06:18 PM   #10
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Re: Bad NT scan results...should I get a second opinion?

gl mama
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