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High risk downs
Worried due to high risk for downs


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#1 LouF1

Posted 02 July 2013 - 06:44 PM

Hi ladies

I hope I'm writing this in the right place, you all seem to know what you're talking about so I'm hoping someone can give me some advice?

I had my 12 week scan and the sonographer said everything looked in order.
NT was 2.00 mm
nasal bone was present.

My maternal serum biochemistry increased my risk to 1/120 risk of downs.
Free beta hCG: equivalent to 1.7000 MoM.
PAPP-A: equivalent to 0.4300 MoM.

I'm 37 and this is my first pregnancy. I'm trying to be rationale and realise 1/120 is not the end of the world, although I can't help but worry.

I'm booked in for an amino on 12/7/13.

Have any of you had a similar experience? Do you know what this means? Should I be preparing myself for bad news?

Thanks in advance

L

#2 Zachary Quack

Posted 02 July 2013 - 07:25 PM

Basically if you have 120 pregnancies (you personally, not compared to the rest of the population), statistically one of those will have Downs. Or to put it in another format, this pregnancy has a 0.008% chance of having Downs.

These tests are not definitive - the amnio is. The NT and bloods just give the odds, not a final answer. Don't worry yourself until you have to (easier said than done).

Good luck, let us know how you go.

#3 maryanneK

Posted 02 July 2013 - 07:28 PM

try not to worry,  and wait for the amnio
or, rather than have the amnio - do you know about the new blood test you can have instead? It isolates fetal DNA from your blood and they do the DNA analysis on that. its an alternative to the amnio - ask your dr about it. not cheap but avoids the need for amnio
good luck

#4 Nervousmama

Posted 02 July 2013 - 07:32 PM

Hi there - you should head to the Support group for High NT results - it helped me to read everyone's  stories when I was going through the same thing a few months ago.
I was given 1:45 odds also due to biochemistry results - HCG of 2.18 mom and Papp-A of 0.303 mom. Everything looked fine with the baby - NT of 1.8mm and wasn't told anything about nasal bone so it must have been okay.
I opted for CVS because I couldn't bear the wait for an amnio. Preliminary results came back clear in 24 hours and full report came through 2.5 weeks later also clear.
The concern was mostly the low Papp-A. It's still a concern at 25 weeks but am just having more regular appointments with my OB to make sure growth is okay. All good so far.
"They" like your numbers to be 1.0 mom for each hormone and any deviation from this seems to get you "caught in the net". Being 37 probably elevates your risk factor slightly so a 25 yo with your numbers would probably not be considered high risk. My first pregnancy I was 28 yo and my numbers were worse than yours but being that bit younger saved me from being considered high risk.
The worst thing about the whole ordeal is the wait.
I am now 31 yo and having a girl this time around. It seems that my body produces a different level of hormones to the norm, but it's normal for me if you know what I mean. I'd probably have bad numbers if I were to go for a third baby.
Try not to stress, it's very very very likely that all is fine but look through the High Risk Support threads as there are heaps of good outcomes.
All the best x
PS sorry for the long windedness!

#5 LouF1

Posted 02 July 2013 - 10:53 PM

QUOTE (Nervousmama @ 02/07/2013, 07:32 PM) <{POST_SNAPBACK}>
Hi there - you should head to the Support group for High NT results - it helped me to read everyone's  stories when I was going through the same thing a few months ago.
I was given 1:45 odds also due to biochemistry results - HCG of 2.18 mom and Papp-A of 0.303 mom. Everything looked fine with the baby - NT of 1.8mm and wasn't told anything about nasal bone so it must have been okay.
I opted for CVS because I couldn't bear the wait for an amnio. Preliminary results came back clear in 24 hours and full report came through 2.5 weeks later also clear.
The concern was mostly the low Papp-A. It's still a concern at 25 weeks but am just having more regular appointments with my OB to make sure growth is okay. All good so far.
"They" like your numbers to be 1.0 mom for each hormone and any deviation from this seems to get you "caught in the net". Being 37 probably elevates your risk factor slightly so a 25 yo with your numbers would probably not be considered high risk. My first pregnancy I was 28 yo and my numbers were worse than yours but being that bit younger saved me from being considered high risk.
The worst thing about the whole ordeal is the wait.
I am now 31 yo and having a girl this time around. It seems that my body produces a different level of hormones to the norm, but it's normal for me if you know what I mean. I'd probably have bad numbers if I were to go for a third baby.
Try not to stress, it's very very very likely that all is fine but look through the High Risk Support threads as there are heaps of good outcomes.
All the best x
PS sorry for the long windedness!



#6 cinnabubble

Posted 02 July 2013 - 10:59 PM

OP, please remember that your testing only shows you at mildly elevated risk based on your age. Please don't fret. I have had both a CVS and an amnio and, while they're not fun, they're fine in the end.

http://php.med.unsw.edu.au/embryology/inde...sk_maternal_age

#7 Justaduck

Posted 02 July 2013 - 11:04 PM

I too was going to suggest the high risk thread.

At 23, I was told DD had a 1:207 chance of having DS so we panicked as well. The worst of it was my hcg was 6.01MoM & pappa was something around 0.5Mom or 0.7MoM. No google searches really brought up anything about 4.0MoM so that scared us even more. We opted for no amnio due to risks and it was a very long wait til the next scan/next scan/next scan/birth til we knew for sure.

They monitored her closely as often DS babies/babies whose mother has elevated hcg can have growth issues. She was born fine and had a chromosome test within an hour of birth and it is all clear.

This pregnancy we were expecting the worst with testing but I screened better for my age. Even still my hcg was 3.59MoM and pappa 0.9MoM. I do not know if there is a link to anything, just a guess of my own, but I was diagnosed with pcos at 13, so I do wonder if it is linked.

All the best for your amnio and hope you can stress a bit less with a negative result for any abnormalities.

#8 LouF1

Posted 02 July 2013 - 11:06 PM

Thank you so much for your responses.

MaryanneK- My ob's told me about the verify test but we decided against it as he said there are 3 possible outcomes. Low risk/low range, mid range/inconclusive or high risk/high range. I just thought its a lot of money to spend ($1200) if there's a chance of getting an inconclusive result, but more so than that, we could end up with the additional stress of still needing/wanting to get another test at the end of it.

Nervousmama- thanks for explaining the results further, that was really helpful.  I debated the cvs, but for me in the end we decided on the amino as it was less risk of mc.  Glad to hear all was well with your previous pregnancy and fingers crossed everything goes smoothly this time too.

2catsandababy- sound advice about not worrying. I will try my best:)

#9 melanieb530

Posted 02 July 2013 - 11:10 PM

As others have said the odds are still in your favour.
I have three perfect children, one who happens to have Down Syndrome and I really belive that there is nothing to fear about having a child with Down Syndrome, she is the greatest little kid and I wouldn't trade her for a "normal heathy" child despite having some major surgery and a couple of stints in ICU.
Good Luck wherever your journey takes you.

#10 beckyp80

Posted 02 July 2013 - 11:23 PM

Hi Everyone, i'm new to this site and would really appreciate some help. I am beside myself after just having my blood test results back.
I was aware after my NT scan that there would be a higher risk of downs as my result was 4.8mm, i am 33.
But my previous pregnancy last year was 1:120 after NT of 3.5 and blood works coming back.
This result has come back 1:2 these are my blood results

Free BHCG 117.0 Free BHCG mom 2.68
PAPP-A 2470 PAPP-A mom 0.92
12 weeks and 3 days CRL 59mm
NT 4.8mm NT mom 3.29

Can anyone make sense of what i should be looking at as there are two different readings, i can't believe the results have come back so high

Thank you in advance

#11 Justaduck

Posted 02 July 2013 - 11:40 PM

becky I would assume that it is based on the increased NT fold. Just by plugging in your CRL & NT into the perinatology website it comes back to say the NT is greater than the 99th %ile of what is to be expected for a bub that size. The expected NT for a 12w3d fetus is 1.59MM.

I plugged your info into a calculating program http://www.sbpsoftware.com/trisomy-risk-calculator.html
and put in in with a"normal" nt of 1.59 as the perinatology site suggested and your risk with a smaller NT came back as 1:1447, but when I put in your actual NT of 4.8mm it is where the numbers jump.

It would really depend on your exact bloods to know what your risk would have been last time

Have they booked you in to see a counsellor to discuss your feelings and what to do from here whether it is the blood screening test/amnio etc?

Edited by Justaduck, 02 July 2013 - 11:41 PM.


#12 beckyp80

Posted 03 July 2013 - 12:12 AM

Hi

Thank you for your reply, i really didn't want to but have booked in for a CVS, i would have avoided this at all costs if possible because of the risk of miscarriage, but due to the really high result i feel i don't have a choice, my CVS is on Monday.

I have read some people post that they have NT results of 5 plus and there chances come in less than mine, which is why i am so shocked at the results.






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