Cheap NIPT test, hopefully accurate! High bHCG, low PAPP-A, normal NT?

[MrsEmilyB]

Hello,

Hoping for some positive stories please. I'm trying to be mindful as we don't have the very high risk some on here do, but we are still worried.

2nd baby. First baby has a CHD (found after birth) and had heart surgery at 10 weeks old. I suffered incredibly severe PPA and cannot go through another pregnancy where the baby has health problems.

Currently 13 weeks pregnant. Had our dating scan and blood test at 12+3:
NT: 2.0mm and CRL 60mm (normal)
HCG: not sure of exact figure but she said twice as high as expected? So I'm guessing around 2 MoM
PAPP-A: 0.61 MoM - she said this was moderately low but not overly concerning.
Age: I'll be 33 in a few days

Our risk for Downs Syndrome is 1 in 273. I know it's not super significant but my daughter was 1:10,000 which felt a lot more comfortable. We have booked a private NIPT for Thursday which I'm hoping will be a bit more reassuring.

As a side note, I've seen Harmony and similar tests costing £400+. We've booked an NIPT with Concepto who have quite a lot of clinics over the UK and it's only costing £159 (no scan, just the blood test). It claims to be 99.9% accurate so I'm hoping this is the case and can provide some extra reassurance to people who may not be able to afford the prices elsewhere.

Hi Emily I had one of these tests for my first daughter as I had a 1-75 chance of a Down’s syndrome child all came back fine she is now 2.5 years old and perfect.
Interestingly I’m now pregnant with my second and I was looking at this £159 but couldn’t see any reviews. I paid £400 for my first.
Could you please update me with how you get on. I would be going to the Croydon clinic and would love to hear your experience.
many thanks

Hi - did you have your NIPT with Concepto? We had one last time and want one again this time. Paid £400 last time but also saw the ad for Concepto and wondered how you had got on with your appt?

I have booked a test with Concepto Wednesday next week. Will let you know how it goes.

I'm going to the Croydon clinic.

Thank you v much. I feel a bit ridiculous about it like as if it's cheaper it's not as good which is stupid 😅
I'm just so anxious about it cos I'm 42 and higher risk. I'll deffo get a nipt just not sure where

It looks like just the blood test only and you're in and out in 10 minutes so it depends if you want the experience but that suits me as I already had a scan. My chances of downs were 1 in 400 on my nhs scan (I'm 38) which I know is better than average for my age but my son 3 years ago was 1 in 5000 so I'm worrying! It's not too much money to hopefully put my mind at ease.

Will update when I've been!

I'm not too bothered about the scan cos I can get one of those seperately and would still be less than the £400 one I had last time. I haven't had any tests yet as I'm too early but as I'm older I will be classed as high risk and the NHS one isn't thorough enough.

Hope all goes well next week be interested to hear how you get on. Do you know what lab they use etc?

I couldn't see online which lab they use. It seems they mostly do PCR tests for travel plus some other scans and tests. Reviews on first pilot seem good, I only found one review re a NIPT test as the rest were related to PCR. They seemed happy with the service though.

Hi girls,
I am 41 and 13w pregnant. My NIPT test at UCLH came back high risk for Down syndrome.
has anyone had false positive NIPT with NHS?
I have to do CVS or Amniocentesis.
I am extremely worried 😭😭 and depressed. I lost my first healthy baby at 20 weeks and this is my last chance of becoming mum. 😢

Hi, this sounds really tough and I hope everything goes well for you. I just wanted to point you towards some useful info that I found in this article - it looks as though the 99% accurate claims for NIPT are pretty misleading. You’ll see an explanation in the info: https://www.nuffieldbioethics.org/blog/nipt-private

Some useful stats:
A more helpful statistic is the positive predictive value. Sometimes NIPT gives a high chance result when the fetus does not actually have the condition. If you receive a high chance result for Down’s syndrome, there is a 1 in 5 (20%) chance that the result is wrong and your fetus does not have the condition. For Patau’s syndrome, there is a 1 in 2 (50%) chance the result is wrong, and for Edwards’ syndrome, it’s a 3 in 5 (60%) chance.[2] So, if you want to know for sure, you will also need to have a diagnostic test such as amniocentesis. Some companies give people’s results as being ‘positive’ or ‘negative’, which as you can see is highly misleading or, at best, confusing

Just to add though you’ll see from the article that a lower chance result looks to be about 99.9% accurate so you can be pretty certain if you receive one of those

Thank you for sharing it with me. Xxx
I hope miracles happen to my baby and amino results come back clear.

I hope so, wishing you the best.
There was also at least one really moving message/comment on there about positive experiences of having a child with Down’s syndrome in case it’s useful to have another more personal perspective.

@Moonlight2023 sending you positive thoughts! @Gemc81 I went for my test today in Croydon. I was in and out within 10 minutes which was great. Results in about 3 working days, so Monday. Will let you know what the results are and how they are formatted.

Hi glad the test went well, thanks for keeping me updated. Did you elect to find out the gender or was that not offered?

I guess that's why it's cheap if it's just a blood draw and nothing else which is reassuring tbh

@Gemc81 gender test was offered as part of the package, they said they can tell from 6 weeks. I decided not to as we want to wait until the 20 week scan

Ah OK. Hope the results come though quickly

@AnneLucy thanks for sharing as I was going to say similar, but you’ve given a really thorough explanation.

Hi lovely, looking forward to hearing what your results are as we are looking to book the Bristol clinic for the NIPT test!
I’m 26 and my NHS results came back as 1:5000 for all Down syndrome, patau syndrome and edwards syndrome and this has got me anxious my baby has an issue!

@bleux just wanted to say there is a chance taking NIPT could cause unnecessary alarm and increase your anxiety. As part of a low risk subgroup, the test would be far less accurate and more likely to wrongly class you as “high risk” or bring about “false positives”.

There is of course also a high possibility that would not happen and you would get a low risk result, just as with the NHS Screening. However, given this has not been enough to allay fears so far, I am wondering what it is you truly think you could gain from a NIPT? The best outcome would basically be that you’d continue to be classed as “low risk”.

@Gemc81 I got my results back today via email and all "low risk". Picture attached. No figures given which is a shame but I think if it's low risk it means very low risk. @bleux to be honest with those figures I wouldn't bother with an NIPT. It's so many times lower risk than on a general population level. I had 1 in 5000 chance with my son and didn't bother. This pregnancy was 1 in 400 (still low for 38) but thought I would like to get checked.

Thanks for sha

Thanks for sharing that. How do you feel now you had the results? Im not far enough along to have had the combined screening yet anyway but it's coming along fast. I feel like cos of my age (42) I would be high risk on the NHS test... I deffo do want a nipt. Idk why I'm so anxious about this lab 😅

@Gemc81 I feel relieved now for sure. You can get it done at 10 weeks if you want it before your scan. I know the nhs will do it if your risk is classed as high, and they wouldn't do it with my chances.