Amnio after negative NIPT?

[Stressed2024]

Hello, I am currently 15 weeks pregnant and trying to make a decision about antenatal tests. I had my 12 week scan which gave me a 1:2 chance of Down’s syndrome and an NIPT when ch came back as low chance. However I’ve been reading about NIPT producing false results and I am getting worried after I read on the NHS website that when you get a 1:2 chance from the combined screening the chance of getting a false negative is higher.
I am now regretting having chosen NIPT over Amnio but I never had enough time to think it through and now the NHS doesn’t offer further testing.
I would like to hear from people who’ve been in the same position and have possibly managed to do the amnio privately.

[MrsScotland]

Hi

I am so sorry you've been put in this position. Can you try to push harder for the amnio, explaining that you are worried?

I had a 1 in 5 chance for T18/T13, and 1 in 8 for T21. NIPT came back high risk for T18, we had to terminate and a post mortem confirmed T18.

I am now pregnant again, going to have the NIPT at 10 weeks but in my area, I can go on to have a CVS or amnio regardless of the results of the NIPT. I haven't decided yet.

[ZuliKyanLarsFoz]

With Down Syndrome, a false negative NIPT would be extremely rare. I would be looking at your initial results to see what made your risk so high. Do you know what your NT measurement was on the scan? What were your PAPP-A and bHCG levels?

[Stressed2024]

@MrsScotland

Hi

I am so sorry you've been put in this position. Can you try to push harder for the amnio, explaining that you are worried?

I had a 1 in 5 chance for T18/T13, and 1 in 8 for T21. NIPT came back high risk for T18, we had to terminate and a post mortem confirmed T18.

I am now pregnant again, going to have the NIPT at 10 weeks but in my area, I can go on to have a CVS or amnio regardless of the results of the NIPT. I haven't decided yet.

I’ve read your previous posts when I was looking at other people’s experiences and I’m so so sorry you went through this. I pray you have an easy and straightforward journey this time, even though I totally understand the stress.
Can I ask where in Scotland you are? I thought it was the NHS practice not to offer the amnio after a negative NIPT. I’m in Edinburgh and the midwife clearly said I’m not entitled to have it. So I’m looking at the private sector now.

[Alc56]

From my own experience I’d definitely go with the result of the NIPT x

[Stressed2024]

@ZuliKyanLarsFoz

With Down Syndrome, a false negative NIPT would be extremely rare. I would be looking at your initial results to see what made your risk so high. Do you know what your NT measurement was on the scan? What were your PAPP-A and bHCG levels?

@ZuliKyanLarsFoz I know it is very very rare but not unheard of. And I believe it’s more for my sanity right now rather as I’m driving myself crazy.

My NT was 3.2 (below the threshold but very close), hCG was 3.27 MoM and Papp-a was 0.45. I’ll be 34 at my due date so I think the combination of these led to a very high risk outcome.
Ive been told not to worry about hCG and papp-a as they are only important for syndrome predictions but I’ve been reading about Papp-a and other risks too. So it’s not easy to relax and enjoy the rest of my pregnancy. I’m just waiting for the next hit at the second trimester scan and want to reassure myself before then.

[jmm499]

Hi @Stressed2024 I’m so sorry you’re going through this worry, it’s such a stressful time. We had a negative NIPT and decided to have an amnio too in the end - although that was mainly because a raised NT had informed our initial chance rating. I know NIPT is only screening but I did feel reassured receiving the results from it…I just couldn’t let go of the ‘what if’ of the NT being caused by something else. We did pay privately for the amnio and I felt it was money well spent… I was on the fence about it for a couple of weeks after the NIPT results but I woke up one morning and felt that it was the right thing (for us). I hope that helps - it’s not an easy decision to make and I remember it all so well.
Sending you love ❤️ p.s the amnio was all clear and the high NT was put down to likely ‘one of those things’ x

[Stressed2024]

@jmm499

Hi @Stressed2024 I’m so sorry you’re going through this worry, it’s such a stressful time. We had a negative NIPT and decided to have an amnio too in the end - although that was mainly because a raised NT had informed our initial chance rating. I know NIPT is only screening but I did feel reassured receiving the results from it…I just couldn’t let go of the ‘what if’ of the NT being caused by something else. We did pay privately for the amnio and I felt it was money well spent… I was on the fence about it for a couple of weeks after the NIPT results but I woke up one morning and felt that it was the right thing (for us). I hope that helps - it’s not an easy decision to make and I remember it all so well.
Sending you love ❤️ p.s the amnio was all clear and the high NT was put down to likely ‘one of those things’ x

Thank you so much for taking the time to share your experience. I’m very happy everything went well in your case. I’m hoping for a similar outcome.
I totally understand the feeling and the more the days go by the more I tend towards the same decision as you. I just know I will never be able to enjoy the pregnancy if I don’t know for sure.

Do you remember what week you did the amnio?

The general guidance is that it can be done after 15 weeks but the private doctor I spoke with was more inclined to do it towards week 17-18 to further reduce the risk.