[Mum2TwoDSs]

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.!

[hollysmama]

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.

[tick]

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!

[Liddylou]

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.

[shelbysmum]

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.

[Chief Pancake Ma...]

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?

[cj82]

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.

[Xiola]

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

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.

[jazzmin]

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

[Justaduck]

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