High Risk Combined Screening, awaiting NIPT Results

[7amCoffeeClub]

I’ve recently received my combined screening result as higher risk for Downs Syndrome (1 in 134).

I am 35, normal BMI, non-smoker. My PAAP-A has been flagged as slightly low (0.44) the midwife said they like it to be 0.5, but she said all measurements at the scan looked perfect.

I’ve had a further blood test for an NIPT and have been advised I will either get a high/low risk result back from this (and not a figure like what I’ve had for the combined test).

I know that if the NIPT comes back with a high risk result, then I will want a CVS or Amniocentesis for confirmation.

However, I am worried that even if my results come back with a low risk, a seed of doubt has already been put in my mind from the combined test.

For those who have been in my situation, have you been reassured/satisfied with the outcome of your NIPT? Or did anyone with a low risk result from NIPT go on to have an invasive test (CVS or Amniocentesis) to confirm (I’ve been told that both are still available to me, should I want them, regardless of the NIPT results).

I think I would feel better if I had a likelihood/probability number to give some context around the result and not just high/low.

I’m really struggling with the shock of this all, and just hoping to hear how others in a similar position have got on.

@MooMa83 the data around miscarriage risk is outdated. Up to date research which accounts for modern technology and the high risk nature of sub groups undergoing invasive testing actually suggests risks of invasive testing is negligible.

Whilst it is fine to have your view around NIPT being helpful for your circumstances, I would query the merits of scaremongering a person who has had a high risk screening result through NIPT. Especially as the research you cite is largely debunked.

@RubyMae1804 I had both CVS and Amnio. The amnio was much better than CVS in my experience. Wishing you all the best and happy to answer any questions you have if I can help at all.

Sorry you’re going through this X

@SarahD19 thanks for highlighting the updated research, that's really reassuring for anyone going through this procedure. My intention was not to scaremonger...no one needs that on top of going through this. My reply was based on the OP's situation of having a low NIPT and considering invasive testing....if your NIPT comes back high that is a completely different situation. Apologies if I have caused any additional upset x

@RubyMae1804, I am so sorry that your results have come back showing high risk. I can’t even imagine the worry that you are feeling right now. It's not fair that you have to go through another agonising wait. There really are no words, but I am thinking of you.

There is still a chance that the results could be incorrect. I have heard many stories of false positives, I think you still have to hold onto that hope.

I am here if you need to talk. Thinking of you and sending the biggest hugs and I am holding your hand from afar xx

I just wanted to update the post for those who are following along whilst waiting for results themselves and in case it helps anyone going through a similar thing in the future.

My NIPT results have come back as low risk. I do feel reassured by this after a lot of research into the NIPT, however I have decided to book a private scan for next week for some final reassurance and if there are no indicators at that or my 20 week anomaly scan, then I will not be opting for any further tests.

I mentioned on my first post that I was told my PAAP-A was slightly low (and as a result, I had been advised to take Aspirin for the duration of my pregnancy and told I would need additional growth scans from 28 weeks), however while I was chatting to the screening midwife on the phone, she advised that my PAAP-A is not in fact considered low after all, she said anything under 0.4 is considered low, but as I am just above this, I do not fall into this category and should not have been advised to take Aspirin, or have additional growth scans! (Thank goodness that my levels are considered “normal”, but on the other hand, I am slightly annoyed at the mix up and worry and that the error was only picked up after me asking about it and mentioning that I had started taking the Aspirin as per the letter they sent me).

I found looking at other people’s numbers etc useful when trying to make sense of my combined test results, so I have shared mine below:

Age 35 / Non-Smoker / BMI 22
HCG: 2.63 MOM
PAAP-A: 0.44
NT: 0.9
CTR: 53mm

The screening midwife said that the high-risk outcome on the combined test was most likely from my HCG levels.

Sending warm hugs to anyone else who has or is going through a high-risk result from the screening test.

Thank you to all who have kept me company and shared experiences and information over the last week, it’s been so helpful during a worrying and lonely time xx

Thank you 🙏 I just have to wait and see Now the next two weeks feel like a life time away 😭

Thanks for your reply ❤️ What was the Amnio like, And afterwards? I’ve been reading up on this online but it’s just good to speak to someone who’s had it.

@RubyMae1804 for me it was more complex because of obstetric reasons (my placenta was positioned in the way basically), so I had issues with having to have the procedure cancelled for weeks and then contamination issues. But even with that, I would rate it as far preferable to the CVS experience. It is also more accurate than CVS for several conditions due to risk of placental-fetal discordance.

In comparison to CVS, it wasn’t uncomfortable, I didn’t experience soreness or any real recovery time. The CVS felt far more uncomfortable and I was noticeably sore afterwards.

Don’t get me wrong, it isn’t pleasant, but having had the CVS, I was expecting comparable and was pleasantly surprised.

It took a while getting the equipment setup (possibly longer in my case due to obstetrics), but it was not too bad.

It it worth clarifying if they will do just a rapid result or a long term lab culture too - and some of this may depend on your initial result and your current profile.

@RubyMae1804 I had an amnio with DD1 many years ago. The procedure itself was fine - it was uncomfortable but I don't remember it being painful. I made sure I took it very easy afterwards. The wait for the results was horrible - I'm sorry you're going through this.

Thank you again for sharing its good to get some feedback on it all. The Midwife has just said I will need to take it easy after it which I will rest up for a few days hopefully my results will be back quick I think they said around 3 days 🙏

@Qbish even CVS can throw up some uncertainty due to placental fetal discord - and also conditions such as mosaicisim - particularly confined placental mosiacisim, which may not be apparent without long term analysis and cultures.

Having become more aware of these issues and having experience of also having drawn the short straw with CVS, I would recommend to people waiting the extra couple of weeks and going for amniocentesis where possible.

Well in that case then yes, amnio would be better. I didn't want to wait, I don't recall why now!

Hi I'm wondering if anyone has experience this so I was told on my 12 weeks scan the fluid on back was 3.6 then my bloods came back 1in 2 chance downs I then went for fetal meds scan a week later and it was measuring 1.4 which was good they I was the very high up Dr said he ruled out Edward amd patau syndrome so just had to wait on test then they have come back down low risk Edwards low risk patau high risk I feel sick to my stomach I now have to have the injection into my tummy I'm so scared for the results I feel I'm being told one thing and then it's something different 💔🕊🕊

Hi this is a similar situation to me I am currently waiting for an amino test next week I waited for the 16 weeks one rather than the CVS as it’s more accurate.
Ask your doctor for this as it will save any further testing it means waiting a few more weeks until you are 16 weeks but it’s better and Safer than the CVS too.
Hope it all comes back ok ❤️ x

@7amCoffeeClub Hi I am mahi age 35 from India and struggling with same thoughts. please share your experience.

In my case
NT 2.4mm
Nosal Bone - Clearly Visible

So NT scan seems good however double marker test/combined test came with high risk 1:50 for down syndrome. Post that i did NIPT and the received result on dated 24-aug with Low Risk for all.

Now I am worried/confused. May I trust on NIPT and continue or May I go for amnio as I will be 16 week pregnant on 31 aug (which I don't want to go because too scary and risky)

What you dicide. Did you went for amnio or continue with NIPT results.

Please help us and guide us. Anyone who has faces this. Please share your experiences what you choosed
Continue with NIPT low risk
Or booked Amniocentesis

@Bholebaba i would trust the nipt, it is very accurate for Down's syndrome I understand

@Itonlytakesaminute Thank you for your response 🙏

Just received my combined screening results that have put me as 1/96 for DS.

I am 28
NT was 1.3mm
hCG 8.98 MoM
PAPP-A 0.57 MoM

I am awaiting my NIPT results but the Nurses did not go over any of my results from the combined screening, and everything looked good on the scan. My only concern is my hCG levels are super high? Has anyone has similar?

@Bai123 so sorry to hear this. I had super super low HCG. If I were to give any advice, it’s try and keep busy until those results come back. The combined screening result is not diagnostic and it could go either way. I have a very beautiful 5 month old after the most frightful scare.

Im in a similar situation. Can you please let me know what were your results ?

Hi,
I’ve just found this thread. Feeling comforted by the past outcomes for people in similar situations.
I’ve just found I have high Hcg of 5.64 and Papp-a 0.55 and am at a 1:13 chance of T21
do you mind sharing what tests you had? Thank you

Hi, @7amCoffeeClub do you have any updates on the results? I know this was couple years ago and sorry if this is insensitive. I have exactly same number as you 1/134 and so worried. Awaiting nipt. Thank you!! xx