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.

I had it done at 10 weeks last PG and they couldn't get results from the first sample they had to re Draw. I'll deffo have it done but probs wait till I'm 12 weeks ish

Ah yes I think I only had 5% feral dna detected and tead the borderline is 4% or something. So it probably wouldn't have shown at 10 weeks for me either. I had mine at 13 weeks

*Fetal DNA not feral!

@MrsEmilyB what was the outcome ? X

Ahh I'm so sorry I haven't been back to update! MN seems to only notify me if I'm tagged and with a crazy 2 year old keeping me busy I haven't been on top of my emails!

I had a really positive experience with Concepto. Went to the Cambridge clinic. They told me all samples are couriered same day to their in-house lab, which is in Watford I believe. I was told 4-5 working days for test results but had them in 3! Thankfully they came back as very low risk for all. Really put my mind at ease and I'd now absolutely recommend them to anyone else in the same position - particularly in a cost of living crisis! I'd use them again in a heartbeat.

Since then we've had our 20 week scan and a fetal echo at Great Ormond Street (my first daughter has a congenital heart defect) and everything is looking very "normal" too, which is reassuring.

I hope this has been helpful for others seeking NIPT reassurance! ❤️

That's great.

I've just paid £420 for tests and scan. I'm annoyed as it said 2-5 days on the advertising but the samples are posted next day, and labs take 5 business days to process. So that's over a week :( I live in the same city as the lab as well.

Not sure if the scan is needed - mine say the nose nose was present and the back of the neck was fine. I'm measuring 11+2 but I was 10+5.

Just to add to this thread ive recently had a good experience with Concepto for NIPT - went to the Heathrow clinic, was in and out in 5 minutes and got my results in the 5 working days advertised. I paid £199 which is a lot cheaper to most other quotes I was getting of £340+

I did the Concepto Advanced NIPT at the London wimpole st clinic.
For context, I am 30 and my first pregnancy last year ended in a T21 diagnosis which was caught on the NHS NT scan. This time around we wanted to have certainty before the NT scan.
I did the test at 11+0 and 3 days after the clinic let me know they got an invalid result. They re-ran the test which took a few more days and the second test came back with results (all low probability!).
I was also a bit sceptical about the low price but the staff were extremely professional, they called me and kept me informed every step of the way which was very reassuring. The lady from the lab even called me directly with my final results when she could’ve just sent an email - she was super lovely.
My fetal fraction was super low (2%) even at low BMI which is why the first sample probably failed. They also offer a re-draw if the sample fails the second time.
Overall I’d highly recommend them if you had a scan at 10+ weeks of gestation and are only looking to get the results!

@Domi123 sorry to hear of your difficult experience with your first pregnancy. Whilst I understand your drivers and wanting to “know for certain”, I would caution anyone who is classed as a low risk sub group to at least think twice before getting an NIPT test for perceived certainty or to reduce anxiety. An NIPT can never provide certainty for a healthy pregnancy and unfortunately.

Whilst I appreciate you had a positive experience and had a low risk result, it is worth highlighting (as referenced within https://www.nuffieldbioethics.org/wp-content/uploads/NIPT-ethical-issues-full-report.pdf) that often the accuracy of NIPT is misrepresented and misunderstood. And in many instances can actually increase anxiety for some individuals due to having low Positive Predictive Value (PPV) for many of the Trisomies.

For instance, instance, the NIPT only accurately predicts Edwards Syndrome 37% of the time and 49% of the time for Patau’s where a High Risk result is given. This means that as early as 10 weeks of pregnancy people may be told their baby is potentially unlikely to survive and be cited the test is over 99% accurate - yet would have to wait many more weeks before any diagnostic tests could be undertaken. And the majority of the time, this test would be wrong.

Whilst I’m sure there are many advantages and the test may be useful within context - for instance where there were other clinical indicators suggestive of risk - simply doing the test to reduce anxiety may be a huge gamble that could backfire for many. Not least because so many clinicians are unaware of the nuances and limitations of the test.

Additionally, the test only tests for so much. I know people have taken the test and assumed a low risk result means a healthy pregnancy and gone on to miscarry.

Hi Sarah, thanks to you and others on here I am well aware of the positive and negative predictive values of NIPT and also about the test’s limitations. I know it can’t tell me that there will be no other physical anomaly but there’s unfortunately no guarantees. What I wanted from this test was to get a result based on which we could make further decisions such as invasive testing if we needed. We will also of course do the NHS scan to see other markers.
However, given the high negative predictive value and given our history, I can now be a little less anxious (which never hurts! :-)).
Thank you for raising awareness on this!

To anyone here researching after a high risk result from Concepto NIPT definitely do your own research and seek further testing.

I received a high risk Trisonomy21 result and was simply told “our tests are 99% accurate so there’s a 99% chance your baby will have DS”. This stat is completely wrong and misleading. What you need to find out is your PPV (Positive predictive value) which is based on your age. we found out mine at 34 was somewhere around the 80% mark and so decided seen as there was a 20% chance the result was a false positive - we should do further testing.

I had a CVS test privately this week which has confirmed the baby is in fact fine. Had I trusted Concepto I might have already terminated this pregnancy.

Best wishes to anyone going through similar at the moment, it was a devastating rollercoaster week made worse by Concepto not being clued up on their own stats. My recommendation would be to go with a harmony over a cheaper NIPT, they’ve been around longer and may even have a lower false positive rate / higher PPV.

@LauraLind sorry to hear you went through this. Unfortunately your circumstances are not specific to any particular brand of NIPT and this is just standard PPV for Down’s Syndrome across the general population. And this is actually NIPT’s most accurate condition in terms of PPV.

No one thinks they will be on the wrong side of the statistics until it happens to them unfortunately - so I have had a backlash on here for raising experiences like yours aren’t uncommon. And most people do not distinguish the difference between accuracy of the test and PPV. As stated, this is why I have posted to increase awareness as I have numerous times - as many do routinely tell people to get NIPT without being aware of these limitations.

I wish you all the best with your pregnancy and a healthy baby. Thank you for sharing your experience x

Hi Sarah and thanks for your well wishes and well done for raising awareness.

I don’t have issue at all with the false positive - it’s unfortunate but like you said these things happen. My issue with Concepto is the miscommunication of statistics and the general lack of after care. I have had two harmony tests in my time and one concepto and wish I’d spent the extra on a company which has more experience delivering results like this to customers. Concepto to their credit are now launching a full investigation and one of the directors personally called me. My consultant at Portland actually mentioned that Harmony tests had a higher false positive rate when they first started out so I’m not sure I agree with you on the brand doesn’t make a difference.

Totally agree with you though - everyone should be clued up on PPVs and what the results mean - especially the people on the phones delivering the results, concepto simply weren’t.

@LauraLind what I am saying is 80% is the average for PPV. And over 99% accuracy is commonly cited to people in respect to all conditions regardless of whether it is Downs. And people, even clinicians I’ve come across working within the NHS get confused by these figures. So it is very much embedded.

It is a far bigger issue than Concepto and has been flagged up across a number of ethical committees over the course of recent years, as per the reports I’ve shared. I understand you’ve had this personal negative experience with this particular brand however.

https://www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html

The point to be made here is the following:

• for Down’s syndrome PPV for NIPT is around the 80% mark across the general population regardless of brand (certain sub groups may vary in accuracy within this).
• other conditions have far lower PPVs. For instance Edwards and Patau’s with only 37% and 49% accuracy in terms of PPV.
• nonetheless many clinicians and those marketing the brands do not accurately distinguish between PPV and detection rates - just stating results are over 99% accurate - which is misleading.
• ASA rulings have found all brands to be culpable in this regard and have demanded better marketing and after care. Whilst some improvements may be seen, this is still a very much a work in progress.

If as an individual you happen to have a “low risk” result with a more expensive brand and so the aftercare and representation of these stats is never put to the test, this does not make the more expensive brand superior - it just means you fell on the right side of the statistics first time around and didn’t have to understand statistical nuance and what PPV etc meant.

On the whole we just need more awareness and better after care generally. I don’t think it is helpful necessarily stating cheaper brands are the issue - I have heard countless people pay for the more expensive NIPT be in exactly the same situation sadly… ASA wouldn’t have had to step in if all the brands weren’t having the same issues. But at the same time people need to do what they’re comfortable with. And if spending more makes people more confident, then people can choose to do so. It just doesn’t align with my experience of supporting dozens of people who have had negative experiences withe NIPT and I’m being transparent about that.

@MrsEmilyB just wanted to check in and see how things are progressing - i got the same results as you this morning (worried about the 5% being low). You might be close to due or have even had the baby now?! I hope everything continued as hoped!

@BobbidyBibbidyBob I gave birth on Friday at 36+4 to a beautiful, healthy baby boy! The NIPT was accurate and Jasper does not appear to be syndromic at all.