High risk nt scan/low risk Panorama

[GM2202]

Hi everyone

I wonder if anyone has any experience of this. I am 39 and this is my third pregnancy - the second one ended with a missed miscarriage a couple of years ago.

This time I was very nervous so I did a couple of private early scans as well as the Panorama test. Everything came back fine, the Panorama showed extremely low risks.

However yesterday I had my first NHS scan and it came back with a very high risk for trisomies (1 in 8 for Down’s, 1 in 15 for the others). This was mainly due to my age and to a nuchal translucency of 3.7 - no other soft markers were found as far as I can tell, and baby was active with a strong heartbeat. I was advised to do the cvs test, which I took right there and then as knowing myself I knew I wouldn’t be able to live with the uncertainty. I was also booked in for two extra scans including an initial cardiac anomalies one next week.

I guess I was really shocked by the news because I felt the Panorama would have been very reliable - I understand it is not diagnostic. I was also told this could signal cardiac abnormalities but I wasn’t given much info on which and how serious these may be, I guess the range is too wide for them to comment at this state.

Does anyone have similar experiences and would not mind sharing them?

The nipt is much more reliable, I had a higher risk for downs on the combined test than the nipt I had first (still low risk but 1 on 7000 combined test, 1 in 10000 nipt). If you've had the nipt (panorama) that's much more reliable imo. I'm 39 and overweight so the risk with those factors was high for me.

I understood it is common to have the nipt after you have a high risk combined so I'm surprised they are going straight to the cvs.

Others with more experience may have more to say.

Thank you @Carebear99. My Panorama results were also less than 1 in 10,000 for all three trisomies. From what I gather they recommend doing the invasive tests straight away if the risk is higher than 1:10, as it is for Down’s in my case.

It’s all just very confusing and a lot of info to take in - because of the Panorama results I was not expecting a high risk result at all and it was a huge shock. It takes up to 10 working days to get the full cvs results back which will be such a long wait…

Hopefully others can weigh in but I know the nipt is much more reliable, I got mine when I was 10 weeks.

A nhs website says "The NIPT offers women an accuracy rate of about 99% in detecting Down's Syndrome in a fetus, compared to 84-90% with the conventional 'combined test' offered on the NHS, which involves an ultrasound scan and blood test."

Tommy's says "The combined screening test picks up around 90% of babies with Down’s syndrome but it will also give a Down’s result to 5% of pregnancies where it is not true."

Also nipt has an extremely low failure rate.

Please try not to worry

Thank you 🙏🏼

Agree with above. I had 1 in 30 chance of downs from the combined screening. Nipt was low risk. I still had the fetal cardiac scans. Baby is nearly 2 and perfectly fine.

Echo others' stories. High NT risks, low NIPT. Still opted for the CVS which in my case took only a few days for the result that showed no chromosomal anomalies.

Still did the cardiac scan around 20 weeks which was normal.

Happy healthy 1year old.

Best of luck with your result and pregnancy.

I did the harmony test at 10 weeks and it was 1/10,000 for each trisomy.

Then did the combined test which had me at 1/42 for downs (age, weight and bloods).

NHS then repeated the harmony test and that came back as low risk. We figured two prenatal genetic tests were very unlikely to be wrong so have settled for that. We could have opted for a CVS or Amnio but decided we were happy where we were.

NHS Consultant said if there was any marker on the baby scan he would have suggested and invasive test as they can test for a wider range of issues.

Good luck OP!

Thank you everyone for your reassuring stories! I’m glad I did the cvs as I know for me it was the right choice but it is also so difficult to make sense of the information and stats… when they first told me I was so shocked I passed out 😓

It’s a long wait before we find out for sure whether there are issues but keeping everything crossed.

Good luck with the cvs. Do you have a date for it and did they say how long you'll have to wait?

Please keep us updated. Wishing you all the best

Thank you @Carebear99 - I have actually already done the cvs yesterday, it was a bit uncomfortable but an uncomplicated procedure as luckily my placenta was in the best possible position for it. The hospital was very well organized and it all took about 20’ including the anti D injection I had to have afterwards. Feeling a bit sore today but nothing major 🤞🏼

I should hear back about the trisomies in 3/5 working days and then about the other chromosomal risks in a further 5. I also have two cardiac and structural anomalies scans booked, one for next wednesday and then for thursday 7th. So the situation is very stressful but at least I feel the hospital is on top of things.

Thank you everyone for your support 🙏🏼

I thought I would post an update on this for anyone who may find this thread and have a similar situation.

So far we’ve had the full cvs results back, including the array, and the early cardiac scan. Everything came back normal, thankfully.

We now have an early anomaly scan booked for next week (for which I’m fairly anxious!) and we will also need to have another cardiac scan at 20 weeks. So still a few hurdles before we are in the clear but the odds are slightly more in our favour from the tests done so far 🤞🏼🤞🏼🤞🏼🤞🏼I am told if all is good by the 20 week scan, we go back to having the same risks as any other ‘normal’ pregnancy and can discount the nt - but we shall see…

In terms of cvs side effects, I still have quite bad bruising several weeks later. I didn’t have any cramping but I did have some brown spotting a week later - I am told this is normal but I wish I’d been told before having it and panicking so again just in case someone finds the thread!

Hi @GM2202 I am happy to hear your results came back clear as I find myself in the same position right now.
Had my first scan last week & was very apprehensive as my last pregnancy ended Jan 2020 due to Edwards following CVS (the NT then was 6 & risk was 1 in 2).
The NT this time round was 2.9 but I have been given a risk rating of 1 in 9 for Downs & 1 in 30 for Edwards/Patau.
No other info was provided so I’ve no idea if something was detected on the scan or blood results. I’m 43 so I’m sure my age elevates the risk but I’m worried sick because nothing was said during the scan (I had a trainee sonographer & someone else helping him) so I feel I walked away with a false sense of security & I stupidly forgot to ask if everything looked fine as I naturally assumed they would tell me (like last time).
I have the NIPT test on Weds so praying for the all clear

Hi @Ladybug06 - so sorry to hear about your pregnancy loss, we had one too in 2019 and it’s just so tough. To then have a second worrying pregnancy makes it all quite a lot doesn’t it, I completely sympathise with the anxiety and the wait is definitely the worst part of it. The NIPT is very accurate though and it sounds like your nt number was not actually that high so I would assume most of the risk factors came from blood and age? Worth bearing in mind that the combined test has a higher percentage of false positives the older you are - I don’t remember where I read this but in all my panicked googling I’d found a research paper saying for my age false positives are 20%, and I think they get as high as 60% post 45!! I wish someone had told me that rather than giving me the generic 5% figure… i wish they just offered the NIPT as a standard tbh.

In our case the NT number is still high so even with the cvs being clear there is still an increased risk of anomalies and heart defects in particular, which means I won’t be able to relax till after the 20 week scan… but I’m trying to take it a day at a time (easier said than done!!).

Good luck for your NIPT - hopefully we will both have more answers this time next week!

I had the Panorama test and researched it a lot. As others have said, it’s far more accurate than the nhs combined test, so I would trust that much more.
While it isn’t 100% it’s extremely rare to get a false negative - false positives are more of an issue.
I don’t think you need to worry, but I know it’s hard - I’m sure your cvs result will confirm.

@GM2202 Thank you so much for your advice, I really appreciate it. I agree, its a shame they don’t offer NIPT as a first screening option, especially for those that are likely to come back high risk on age & past pregnancy anomalies etc
I’m sorry this also happened to you, fingers crossed both our rainbow babies are fine & healthy xx

Hi OP. I was in a similar position few years ago and remember so well the worry. My DD's NT was very slightly higher, and also had low risk NIPT, CVS tests and fetal echocardiograms,

She was diagnosed with structural conditions about a year after birth which I suspect were in some way related, but so far at least they don't affect her much at all and nobody is aware unless we've told them. I appreciate there's so much uncertainty, but I found myself some comfort in hearing stories like this where there was a "cause" that possibly explained it but everything was still ok, so hopefully it is the same for you. If you'd like any more info please PM. She's older now and as I say very happy and healthy.

Thank you @Sleepingbagwithtoucans! Yes it is absolutely reassuring to hear stories where there is a cause but it’s still ok and if you are sure you don’t mind sharing please do send me a message!

I do try to remember there aren’t only the worst case scenarios but it’s so tricky when you have to wait for weeks before all the checks are done…

Hi, I called to ask what my blood test results were & they said my HCG was 109 & PAPP-A was 0.93

Would be curious to know what others results were.

@Sleepingbagwithtoucans do you mind me asking what led you to get you DD checked? I am just wondering as my DS is now one and seems completely fine. But you can't help but wonder.

@Dogsandbabies it was obvious to us by about six weeks (although as I say not to anyone else really even now) and we started a lengthy process to diagnosis - the conditions are rare but we were pretty sure we knew what it was before imaging confirmed it.

I mentioned on a PM to OP that I haven't come across any other DC (in online groups) with the same whose parents remember them having high NT, and I don't think they are associated conditions in any papers of outcomes either so it's definitely not a common co-event but I do think the two things were related in her case, as do her doctors. In what capacity is still a mystery - a common environmental factor may have caused both etc, but I do remember reading at the time about lots of DC with a similar measurement who were older at the time of the posts and had never had any unusual features or problems and were completely healthy.

@Ladybug06 hope your NIPT went well and I imagine you’re now waiting for the results?

I will try and dig out my bloods but tbh I have PCOS so pretty sure that makes them not a good comparison…

Hi @GM2202 I received the call today & with much relief was told my NIPT results came back low risk for Downs, T18 & T13.

My age & previous T18 result must have elevated my risk during the combined test calculations.

I had exactly the same situation. The sonographer doing the tests was awful. I spoke to the midwife in charge who told me at that hospital (huge london maternity teaching hospital) patients with high risk tests are sent for nipts before cvs or amnio as they are so accurate (and non harmfil). She advised me if the panorama was low risk thete was very unlikely yo be a problem and to ignore the combined test. Staff are supposed to take an NIPT test iver a combined test at that hispital. Needless to say all was fine. I would trust the panorama in your case.

How did everything turn out @GM2202 ?