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Nuchal Translucency (NT) Test - Scan & Blood Test)
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#1 Mum2TwoDSs

Posted 17 April 2012 - 10:11 AM

Hi all, I just had my NT scan @ 13 weeks. The combined result (scan + blood test @10 weeks) concluded that I have almost 1% (1 out of 95 chance) of having a down syndrome baby. The following are my results :

NT (scan) shows baby's fluid at 3.1mm max (normal is 1-3mm)
Blood test shows beta HCG at 2.11 (normal 1)
Blood test shows protein A at 0.96 (normal 1)
My maternal age is 38.

Though tthe results are not appalling, I am really anxious. I am not ready to have a down syndrome baby. We have tried so hard to conceive this baby.

Is there anyone here who has similar experience/situation?

what are your results like?

Did you opt to do CVS or amniocentesis (diagnostic tests) after your NT test/scan?

How long did the amnio result take to come back?

What was the outcome?

I have at least two friends who had this sort of false alarm and I am hoping mine is as well. I understand that this combined NT screening test is not100% but it is horrible to be subject to worries. I have to wait another 2 weeks for an amnio and then wait for results.

Thanks.!

#2 hollysmama

Posted 17 April 2012 - 01:13 PM

My sister, at age 40, had a combined result of 1:150, so she had the amnio. The results took a week I think to come back and they were negative.  It would be a tough thing to deal with. I was freaking out with results of 1:1500 because I am only 33. I guess your decision on whether to have the amnio would rest with what you would do if the results came back positive.


#3 tick

Posted 17 April 2012 - 05:21 PM

The NT test throws up a huge number of "false alarms", that's pretty much how it works.  In this pregnancy I had a DS risk of 1:3 with a nuchal fold of 7.1 (!) mm.  We had a CVS which went well and preliminary results were back 24 hours later.  They were "all clear".  If I had your result I'd probably opt for no further testing, but if you're going to spend the rest of the pregnancy worrying then perhaps it's worth considering.

If you have your CVS or amnio done by one of the experts, the risk of miscarriage is really very low.  If you're in Melbourne I can recommend a couple of specialists who are very well regarded in that respect.  

I must say, if I had my time over I'd skip the NT test all together and go straight for a CVS if I had any reason to be concerned.  At least with CVS you get a definitive answer!

#4 Liddylou

Posted 17 April 2012 - 06:57 PM

Hello
Last pregnancy I had a 1 in 60 risk which was considered high. I was 33. I choose to have the cvs . The baby died the next day as a result. There was nothing wrong with him devastating. I am now 12 weeks again and have been warned I will get another high risk but it's from my bloods. Looking back at my other pregnancys they have found this is how I make my babies. I will not be having any further testing this time no matter the risk. I know it's not nice to hear and the risk is very low but just wanted to let you know what can happen.

#5 shelbysmum

Posted 17 April 2012 - 07:06 PM

I have just had an amnio at 16 weeks as I lost my first son at 33 weeks due to a trisomy disorder that was not detected at 12 or 20 weeks. I had the FISH results back in 24 hours and got the all clear that will allow me to relax (a little bit) for the rest of the pregnancy. I opted for the amnio as it is slightly less risky that the CVS.

At the moment your risk of DS is higher than the quoted risks of both CVS and amnio, something to consider. As a PP said- if you have the procedure done by an experienced practitioner then the actual risks from the procedure are lower again.

#6 Chief Pancake Make

Posted 17 April 2012 - 07:16 PM

I would like to go straight for the CVS, but my GP would only give me a referal for an NT and said I can talk to the OB at the U/S clinic if I want further testing.  I am two weeks short of 35y high risk category which was her reason.

I am worried that I will have to argue with the Ob to get a CVS.  I just want to know everything is ok and I can tell my friends and family and enjoy my pregnancy.  I am gaining weight now at 8wks I cant wait 16 or more weeks for an amnio.  

If your NT results are normal will they agree to further testing just becuase you want it or do you need a good reason?

#7 cj82

Posted 17 April 2012 - 07:23 PM

I had a really high risk combined bloods and an echognic focus. I was only 26 so wasn't expecting it. I had an amino and everything was fine. DD is now 4 and happy and healthy. I decided against testing in my second pregnancy. It was too stressful. Good luck. I know many false alarm stories.

#8 Xiola

Posted 17 April 2012 - 07:38 PM

Is there anyone here who has similar experience/situation?
There's heaps of us unfortunately, it's not uncommon to get these results.  

what are your results like?
My HGC and PAPP-A were both quite low (around .29 each when like you've mentioned, the 'norm' is around 1.   At 36, these results when combined with DD's heartrate of 178 and my age gave me a 1:4 chance of T13 and 1:27 chance of T18.  T21 wasn't really an issue as these other figures were so high.

Did you opt to do CVS or amniocentesis (diagnostic tests) after your NT test/scan?
My OB recommended a CVS due to the high risk and the fact that at 12 weeks, I would need to wait another 3 weeks at least for an amnio but as I had a very big bleed that started that day (I thought I was going to miscarry and that the risks were true) and lasted for 7 days I opted for an amnio rather than further compromise the placenta which might already be in bad shape (the low papp-a can indicate this).

How long did the amnio result take to come back?
  I couldn't get FISH results as my amniotic fluid was very badly stained with old blood due to the bleed I had so I ended up having to wait 3 weeks.  From the NT results to getting the amnio results was the longest 6 weeks of my life!

What was the outcome?
My amnio results came back all clear however due to my results I was very closely monitored for the rest of the pregnancy as low papp-a has been linked to IUGR and DD was measuring in the 12th percentile.  I ended up getting induced at 37 weeks as she'd dropped down to the 5th percentile and she was born very healthy but very tiny (2.28kg).  She's a perfectly healthy 8 month old today original.gif

The wait is the worst part but I found it best not to always consider the worst and what choices I would be faced with should my results come back with bad news.  I tried really hard to stay positive and thankfully had fantastic support from some very special friends and family members.

Best wishes to you, I completely understand what a hard time this is.

#9 jazzmin

Posted 17 April 2012 - 08:47 PM

Hi OP,

You know my story - NT 4 weeks ago - risk of Trisomy 21 was 1:225.

Not alarmingly high but scary after my last pregnancy 4 years ago was 1:8995.

I decided that if I didn't have the amnio I would never be able to relax through the pregnancy and it would constantly be on my mind. CVS didn't even enter my mind, I was worried enough about the risk from the Amnio let alone a CVS, LOL.

The wait wasn't fun and thinking about the baby was all consuming.

I had the amnio last week (Tuesday), got the FISH results Thursday and the baby is fine.

My high risk result was from my bloods - I believe my PAPP-A is low, which I read can be inked to later pre eclampsia and IUGR so it will be interesting to see what happens there.

Best of luck original.gif


#10 Justaduck

Posted 17 April 2012 - 09:02 PM

My NT Results & Decision about amnio:

I am 24, was 23 when the test was done & my age results should have been 1:1100, I came back at 1:207. NT was 2.1mm, hcG was 6.01 MoM & I think the Pappa one was .8. We opted at the time to do no amnio as I didn't want to risk what could have been a perfectly healthly bub with it when the chances of her being miscarried from this procedure (1:100 according to official documents, other sources say this is wrong) were double the risk that she had down syndrome. We were not planning on terminating either way. However, I did not know that my bloods were 6-12x higher than 'normal' (being .05 MoM -> 1 MoM) as the ultrasound place forgot to put the results paper in my envelope. We decided to wait out til the 19wk scan and see what it revealed. There were NO physical indicators of DS.

In saying we waited, it was a very long and emotionally draining time waiting it out. I would see 'signs' that my baby would have DS (DS child on playschool, article on DS in our local parenting paper, DS kids in the shops etc) and constantly researching HcG levels, of which I found no other case with it that high and there being no issue.

Outcome:
19 week scan came back clear and results were lowered to 1:624 (the most they can lower them) and we were elated. However, around the 34wk mark when things started getting serious I worried again and could not put my mind at ease. I cried waiting to go into theatre as I was so scared she would have DS, even though my Ob said there was a greater risk for a c-section related problem than her having DS. When we first saw her she had puffy eyes and kept sticking her tongue out. being first time parents we didn't know that this was 'normal'. She looked like a 'normal' enough (sorry don't want to offend anyone with ds, just don't know what other word to put) baby, but we got the chromosome testing done then and there to rule anything and everything chromosomally out. She is completely clear of DS or any other chromosomal disorder.

There is a support group for High risk NT scans as well on here.
Best of luck

#11 fizzy19

Posted 17 April 2012 - 09:38 PM

hi my recent pregnancy nt  results were 1:84 for down syndrome so I opted for an amnio which I didn't have til nearly 17 Weeks. the procedure was fine and I had no bleeding and waited about 3 days for the quick results which were negative. I had him 3 Weeks ago due to HELLP syndrome and he was only 2.5 pounds and has a spinal dimple but apart from that he's fine.  

good luck

#12 sarkazm76

Posted 17 April 2012 - 09:42 PM

OP you can also find ongoing support on bad NT results in this support group - http://www.essentialbaby.com.au/forums/ind...howtopic=972015
There is also one for no further testing.

I had a 1:24 chance of DS and elevated for the other 2 trisomies though not this bad.  We had a CVS and it cleared us for these back came back inconclusive on gender which we were NOT prepared for, even with the genetic counselling given to us.  It was scary and confusing and very emotional and stressful.  We met with the genetics drs at the hospital and tried to get our heads around what it all meant - especially as ALL the medical staff attending my CVS were 100% bubs was a boy - even we spotted his gear on the US screen!!!  We went on to have an amnio to make sure results were accurate.  It was the same as the CVS - bubs has 50% XY (normal boy) and 50% X0 (X only where the Y chromosome is missing).  To cut a long story short... Bubs was born in Feb 2011 - completely fine, completely healthy and continues to be as was expected all along.  He has an Endocrinologist who wants to monitor him through puberty to make sure everything develops ok and his hormone levels are normal.  She has been seeing him twice a year so far.

No one could ever confirm that any of this was what caused my results in the first place!  I know one thing, after a CVS, Amnio and gallbladder removal surgery while pregnant... my guy is quite the fighter biggrin.gif


#13 allyire

Posted 17 April 2012 - 09:57 PM

At 12 weeks my results came back at 1:105 chance of down's syndrome. My maternal age was 30 and the NT scan was fine, but the blood work looked really bad. I opted for the CVS test, which they were able to perform a few days later. Everything turned out fine, but I was very glad to be able to find out so quickly.

#14 ladybird1

Posted 17 April 2012 - 09:58 PM

QUOTE (Chief Pancake Make @ 17/04/2012, 07:16 PM) <{POST_SNAPBACK}>
I would like to go straight for the CVS, but my GP would only give me a referal for an NT and said I can talk to the OB at the U/S clinic if I want further testing.  I am two weeks short of 35y high risk category which was her reason.

I am worried that I will have to argue with the Ob to get a CVS.  I just want to know everything is ok and I can tell my friends and family and enjoy my pregnancy.  I am gaining weight now at 8wks I cant wait 16 or more weeks for an amnio.  

If your NT results are normal will they agree to further testing just becuase you want it or do you need a good reason?


Why oh WHY do some GP's think they can treat women like this?

If you want a CVS, you go to your GP and request a referral for a CVS (stating that you prefer the definite diagnosis provided by the CVS rather than the probability estimate provided by the NT test). End of story.  It is your decision which test to have NOT the GP's decision.  After all, you are the one taking the risk and the one who will have to deal with the consequences. If your GP cannot respect your decision, definitely time to find a new GP!

For the record, I had a CVS at 35 (so younger than the 37 years that is considered high risk in Victoria).  I simply told the GP I would like to skip the NT and go straight to the CVS so that I'd have a definite answer, and she wrote out the referral straight away.


#15 ladybird1

Posted 17 April 2012 - 10:04 PM

Also, my GP recommended that if I was going to have diagnostic testing then a CVS at 11-12 weeks would be better than an amnio at 16-17 weeks  (because a termination, if it came to that, would be less traumatic if it were earlier rather than later).  I think that's a good point.


#16 frogsong

Posted 17 April 2012 - 10:18 PM

Our test results came back with a 1:16 chance of down's syndrome.  We had CSV and got the FISH results as I didn't want to wait, and I have to say that the wait for the results was a lot worse than the actual procedure.

#17 Mum2TwoDSs

Posted 18 April 2012 - 10:41 AM

Thanks ladies for sharing your story. First pregnancy here in Australia, a totally different system from what I experienced back in my country and plus I am already 38, it is really worrying to get this sort of results.

Some of you went through a lot in your pregnancy and I am so sorry to hear that, so thank  you so  much again for taking time and effort to share with me, and I am so relieved that your baby is fine.

Thanks for the advice too, definitely helpful for me and DH so we can discuss.

#18 Mum2TwoDSs

Posted 18 April 2012 - 10:50 AM

QUOTE (Liddylou @ 17/04/2012, 06:57 PM) <{POST_SNAPBACK}>
Hello
Last pregnancy I had a 1 in 60 risk which was considered high. I was 33. I choose to have the cvs . The baby died the next day as a result. There was nothing wrong with him devastating. I am now 12 weeks again and have been warned I will get another high risk but it's from my bloods. Looking back at my other pregnancys they have found this is how I make my babies. I will not be having any further testing this time no matter the risk. I know it's not nice to hear and the risk is very low but just wanted to let you know what can happen.


Dear Liddylou,

Tried to pm you but unsuccessful.  Thank you for sharing your story with me. I am so so sorry that your baby passed away sad.gif. However, I am so happy for you and congratulations to you for your current pregnancy. I wish you all the very best with this pregnancy.

original.gif Mum2oneds

#19 Mum2TwoDSs

Posted 02 May 2012 - 12:15 PM

Hi everyone,

I just want to thank each of you for your contributing posts that really helped me prepare for this amnio, about getting the FISH results and getting a really experienced doctor for the procedure.

We finally did our amnio yesterday at 15weeks3day, it was not really painful but really uncomfortable, like this worm digging into my guts and then pulling out...but the doctor was really good, his words made me feel like I was the bravest woman in the world. I had a little cry and came back resting lots.

Today we got our FISH results, meant to be tml but DH couldnt wait and called the lab. The technician somehow thought he was the doc and told him WE ARE ALL CLEAR for trisomy 13, 18 and 21. The genetic counsellor he spoke to thereafter also confirmed it. And we are having a baby boy!!! We are so over the moon, so happy to receive this result after two weeks of hell. I finally can enjoy my pregnancy!

Thanks so much again ladies!!!

#20 redflutterby

Posted 02 May 2012 - 12:24 PM

Congratulations! That is very exciting for you!

#21 Etcetera

Posted 02 May 2012 - 01:28 PM

Congratulations! I know the relief well.
Congrats on your boy!!

#22 ~MakkaPakka~

Posted 02 May 2012 - 05:33 PM

I am so happy for you  biggrin.gif

With DS we had a reading that was just into the high catagory for DS, also related to high levels that came back with the blood work.   We had decided to go ahead with the amnio as our first child was born with a neural tube defect which was not found untill after birth and we learnt with these things we wanted to be prepared.  The results came back on the day of his 18 week scan as normal.  .

DS has now been diagnosed with autism and we are about to go under further genetic testing called microarray to see if there may be a genetic link to his autism.  I have no idea if they could be linked at all but hey  unsure.gif




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