Very high risk NT and 12 week bloods, low risk NIPT result. What next?

[SeahorseBlue]

I have posted on some other threads recently as at my 12 week scan I was told I was very high risk, (greater than 1 in 5) for Downs Syndrome, Patau syndrome and Edwards syndrome. This was based on very high NT measurement of over 6:5mm and hcg and papp-a levels being low on blood results.

We were told baby would most likely have a chromosome abnormality, if not one if the 3 mentioned above then another one, or another type of abnormality, such as a heart defect and that there was a very high chance I would miscarry. We prepared for the worst and opted to have NIPT. The results came back as very low risk for the 3 chromosome abnormalities mentioned above.

Whilst this is good news I'm still worried, based on what I was told after the scan. I was wondering if anyone else had experienced this? If anyone else had been in this position and found the baby had another abnormality? Or anyone who went on to have a healthy baby?

I'm conscious that NIPT, although quite accurate is still screening and not diagnostic, that it only gives a result for 3 abnormalities and it is possible to get a false negative.

I've been told I can have further tests, such as amnio, on the one hand I would like this to give a definite diagnosis for all chromosome issues, but I'm also worried about the risk of miscarriage. I really don't know what to do.

I'm sorry you're in such a confusing situation, it must be incredibly worrying.

I think that, given the low serum levels in your blood and the very high nt measurement I would have to have an amnio or cvs to rule out any chromosomal issues. Even if the initial results come back clear for Downs/Patau/Edwards something may show up on the full karyotype.

I am biased as I was recently given a 1:3 for Edwards, and I know that if I get pregnant again the only results I will trust are an amnio or cvs. (I did have the NIPT with dd though, which was brilliant at the time, but I'm too paranoid to trust anything but invasive now ).

Two other points to consider, which you probably know from googling, are that low Beta HCG and PAPP-
A levels are more usually associated with Patau/Edwards, Downs tends to be high Beta HCG and low PAPP-A. Also, that although the miscarriage risk for amnio/cvs is reported as 1%, I have been told by a consultant that it is very rare to miscarry if the baby is ok, it is generally where there is an existing problem that miscarriage occurs.

We were due to have a CVS at 13 weeks, they couldn't do it due to position of the placenta, so we went back at 14 weeks for another attempt, but the baby had died in the interim. If they had carried out the test at 13 weeks, my baby would still have died as it was very unwell, but it wouldn't have been because I had the CVS.

I think if your risk is a lot higher than 1:100 then it's worth having an invasive test because the risk of mc is lower than the risk of there being a problem. Or alternatively you wait until your anomaly scan at 20 weeks and see if anything shows up.

Would the clinic who carried out your NIPT consider re-testing given your combined test results?

I'm also not sure how accurate NIPT is in cases where there is mosaicism and if that can give a false negative.

If you haven't already, you might want to talk to ARC, who are a wonderful charity, with a very helpful and supportive helpline.

I hope it all works out for you.

We had our 12 week scan a couple of weeks ago and had a high NT measurement and we're given a 1 in 10 chance of cromosome issues.

I had the CVT (similar to amno) a week ago, results came back as all clear for all chromosomes and it had totally put our mind at ease.
We still have to go for a heart scan at 16 weeks to check for heart abnormalities
and just been for a check up and baby is fine

Oooos posted too soon

It is a really scary time.

At our appointment today they mention that the NT measurement may be due to other issues such as club foot.
Just hoping everything goes well at our 16 week scan now. It was so reassuring to hear heart beating today.

If you want any advice on the CVT/amino I can try and explain :)

Sending wishes for your baby

Thanks for your responses. We decided to have the amnio and we're now waiting for the results.

LonelyCooler, when is your scan? I hope all is well with your baby.

Hi seahorseblue we had our scan on Thursday and everything came back super healthy for his heart.

How did your results for the amino go?

That's great news LonelyCooler!

Our amnio results came back clear. We have our 20 week scan next week. I am feeling quite anxious about it as we're so far into the pregnancy now.

What was your NT measurement if you don't mind me asking?

Yey congratulations it's great they came back clear.
Our 20 week scan is the 29th June.

I think it was 4.5 but I'm not 100% sure now and don't have my file handy.

Hope your 20 week scan goes well :)

Hi there,
Really good to find these posts and share the waiting game... I had high NT (5.8) at dating scan 3 weeks ago and have felt in pregnancy limbo ever since. The first sonographer was so pessimistic we thought it was game over there and then, but the consultant later said it was about 50/50 for abnormality or 'normal' baby.
I had a CVS done a week after that and we're all clear for Down's, Edward's and Patau's but still waiting on the rest of the results. We've got a cardiac scan on Monday (when I'll be 15 weeks). It's a killer waiting for all these tests and results, especially as I'm starting to show (it's number 2 for us).
Did you feel able to worry less after cardiac scan/amnio results were in? From what our consultant said, I feel like even if baby passes every test, no-one is going to say that there definitely isn't a problem...
Really glad you've had positive results so far and best of luck for your 20 weeks scans.
xx

CEDY glad your Cvs results have come back looking good so far and fingers crossed for the full results.

For me I don't think I'll stop worrying until he's here now. I have scans every 2-3 weeks after our 20 week scan and every time I think I'll will now have that 'What if something has gone wrong feeling' it's a shame as for the past 3 weeks all we have had is good news from cvs and feral heart scan but I think 'something' must have given us the high risk at 12 week scan.

I have just had the blood results from my nuchal/dating scan and i have a 1/106 chance of downs syndrome. Im terrified as i have wanted this baby so badly but as i suffer from M.E and have my own health issues i habe decided i cant look after a disables child ( im single too) i have opted for a CVS on monday. Im 28 and so frightened of the results and miscarridge risk but i have to know. Im nearly 12 weeks and sadly if downs is confirmed i will terminate the pregnancy. I know i will be slates for this but having lived with ME and other health issues since i was a teenager i know how limiting lofe quality can be with health issues let alone serious disabilities like Downs. Has anyone had a CVS? Do you think my odds are good? Normal for my age is 1/1000 :(

I had a CVS a couple of weeks ago. I didn't find it painful, just a series of odd sensations and you get the Downs result back within a few days. They seemed so certain of an abnormality in our case that I didn't really worry about the miscarriage risk and if you feel you need a diagnosis, then the risk seems worth it to me. I was 1/12 for Downs after initial screening but our CVS results were all clear, so with 1/106 you have a really good chance of being OK too.

Hi LonelyCooler, how did your scan go?

We had ours last week and no abnormalities were picked up, so good news, but like you I keep thinking something must be wrong because of the high NT measurement and bad blood results at 12 weeks.

User, CEDY, how are you getting on?

Glad your 20 week scan went well. We Had our scan yesterday and all was perfect, feel sense of relief today but just want him to be here and well now. Think the high NT measurement and worry will mean I'm not gonna enjoy the pregnancy.

Hello everyone, I had the CVS back in October as our risk for 1/85 for DS and 1/78 for Edwards or Patau's based on bloods and NT of 3.4mm. It was the worst day of my life, we had the CVS the following day, I actually found it painful and hated every moment of it. Our results came back clear though as did the full karyotype.

There are both sad and happy stories following the screening risks, mine is a happy one and my daughter is now being a grumpy little moo, poor thing, on her bouncer as I type this (early teething I think!).

Please do ask me any questions if anyone has any. There are some very brave ladies on these boards who have had sad stories but they are so helpful and will also help too.

Best of luck to everyone, I was very glad I didn't have to make any hard decisions, I'm still not sure what we would have done.

Great news that both of your 20 weeks scans went well! Ours is next Friday so fingers crossed we'll be in the same boat... Though as you say, I'm not sure I'll be worry free until baby's been with us for a few months and definitely seems ok! Hope we can all balance the additional worry with some excitement though :)
Thanks for sharing your story, OoohSmooch, good to hear a positive outcome!

Please can I ask your age and hcg/Papp-a levels at this time?

Hi I hope you are all well and I know it’s been some time since these posts but could I ask if all your babies turned out fine and healthy after the high NT measurement?
I see your scans and tests came back fine and so happy to hear that. Just wondered how your babies are now?
I’m currently going through the same thing with a high NT measurement at first scan

Hi Aimee, just like you did I’ve just found this thread and wondered the same thing. I hope your story had a happy ending? It’s an incredibly worrying time isn’t it, feel like I’m in such limbo :(

Happy ending here - normal 4 year old sitting next to me. Hope you had a happy ending AimeeB and wishing you all the best Alexa. Xx

Hi Alexa
We did have a happy ending. I have a happy, healthy 14 month old. He’s absolutely fine and perfect in every way.
I didn’t stop worrying the whole pregnancy though, even after NIPT results showed low risk. Only until he was here I felt relief.
I know these scans and screening are great but also can cause a lot of unnecessary stress I feel.
I hope you also have a happy ending. Totally understand how you are feeling.

Thank you @CEDY I needed to hear this. So happy to hear your story had a happy ending xx

Hi @AimeeB87 I’m so happy for you. I feel exactly the same, I don’t feel like I’ll relax until they’re put into my arms, it’s going to be a long 5 months. I totally agree, of course they’ve got to do their job and share the results from the screenings but I do feel like the way it’s delivered can make you feel like there’s no hope which is the last thing you want to hear and can cause unnecessary stress x