NIPT

[Chanel05]

I'm thinking about getting NIPT at 10 weeks. My NHS scan is booked for 12+5. If I get the NIPT, will I also need to have the blood test at my 12 week scan still? Or will the NIPT tell me what I need to know?

@Ers77 What is it you’ve interpreted as “unbalanced” about my post? I literally don’t understand your criticism. You have cited my post is unbalanced which suggests you are in some way disputing the content - yet have failed to explain your reasons.

I have written very clearly that NIPT has it’s place in risk assessment - where there are high risks identified as opposed to a recommendation as routine to reassure. I have also clarified that with appropriate counselling and support, I do not object to it being rolled out. Sadly I see little evidence of this being implemented and that is where I speak out - for all the reasons I have very clearly laid out and you have failed to respond to.

If people choose to take this test and are happy/informed, then good for them. That is not where I take issue. And if you read my posts properly you can see that.

Hi @Paranoidkaty,

I spoke to the hospital this morning and was told the following results;

• HCG - 2.35 (high)
• Papp A - 0.3 (low)
• NT - 1.55mm (fine)

I spoke to a different nurse today and she was very helpful. She said my scan came back completely normal and my results are purely based on age and blood tests. I explained my choice of using the NIPT as a further screening for Down syndrome and if I still came back high risk then I will have the amniocentesis. She said she understood my reasoning but just warned that their still could be false negatives with the test and she had heard of a couple of cases but for me this route makes the most sense and I feel happy about it. Booked in for Thursday so hopefully will know in a couple of weeks!

As someone that will be 43 at delivery that had a 1:140 ds result on my 12 week bloods I am very grateful to Sarah for sharing her views. I'm nearly 20 weeks. I'm currently anxiously awaiting my harmony results. My trust doesn't offer harmony so I have paid for it privately. Currently on day 10 and still no letter - it has been a difficult wait so far.

I didn't want to go straight to the offered amnio due to the miscarriage risk. But if we get a high result on the harmony I will have the amnio to get a conclusive view. The harmony literature has nothing about the mosaic stuff (and just talks about a 99.9% detection rate) and really (given the expense of the test) their literature should be much clearer on this.

I think the reality is that if you get a low risk result you are probably in the clear - it's the risk of false positives that should be better explained.

@Sarahlouise86

I literally spent the last 4 days doing nothing but going through every research papers published on the subject and there has ofcourse been the odd false negative but same with any test and that’s why you have the really detailed 20w scan even if comes back

@memberofseven thank you for your comments. It is nice to know that I am helping as that is all I want, having felt at times, unsupported and misinformed during my own experience. I have been alarmed how many people have had awful experiences and not had processes explained fully, which is why I try to have an open dialogue about it.

I totally appreciate that a negative NIPT can be reassuring and do not dispute this. Nor oppose the use of NIPT where there is clinical need/context. It is a matter that whilst you may get a good/reassuring outcome, statistically some people will experience their worst nightmare for a matter of months, completely unnecessarily due to the poor PPV. Or may live with a lifetime of regret at terminating a potentially healthy pregnancy unnecessarily.

I think the sad part is too many people see these issues as irrelevant and rare until it happens to them and it is THEIR baby. Until then it can feel safe to dismiss the shortfalls as a minority. But really when stakes are as high as what they are with pregnancy, is it ethical that so many people are misinformed? Reading this thread alone, someone has described NIPT as “pretty much diagnostic” and people are advocating for using it when there is no identified risk. This really concerns me 😢

I feel for all of you facing prenatal diagnostics. It takes real resilience and I wish you all the best xx

@Paranoidkaty for what it's worth I would be satisfied with the result you have and I wouldn't risk an amnio with that result. I'm sure there are people out there that have had an amnio in similar circumstances though. They are only screening for a limited number of syndromes and a clear result here does not mean that the child will be born healthy and indeed many children develop illnesses. My son was diagnosed with cancer at 2 (he's fine now) and that never would have been screened for. At the time I went off down a rabbit warren of research about possible effects and made everything much worse for myself. If you need a 100% result for the known syndromes you need an amnio but otherwise try not to let this ruin your pregnancy (easier said than done). I'm currently thinking the worst as my result is taking so long to come back even though I had a positive anomaly scan with no signs. It's a very stressful time.

My Fetal medicine unit told me to grill the different providers on their detection rates as apparently not all providers are equal. That made me pretty stressed as it is not straightforward information to obtain and they were all pretty cagey when I questioned them. We went with the spire in the end but I do think this test should be carried out by the NHS even if you have to pay for it.

Sarah, in my peer group (relatively affluent) it is pretty much expected that you will have the test privately as a matter of course. I didn't have it at 10 weeks so was unusual in my friendship group. Indeed the midwife that took my bloods for the test was very surprised when I said I was 17 weeks as I think they usually see people much earlier. So I see what you are saying but really it is no different than the stress from a high result from the nuchal or quad which the nhs offers as standard. I declined the tests in my first pregnancy but have had them in each subsequent pregnancy. 50% of babies with downs are not identified on the anomaly scan. So to my mind it is imperfect, but the best offering for non invasive. A lot of these issues would be removed if it was an nhs offering as it would all be much more joined up.

It doesn't replace the invasive tests for certainty.

@itsabitofamess thanks for your reply I appreciate your input. If you read my comments I do cite that the PPV for Downs is a lot more accurate - although with 20-50% false positives depending on the clinical group accessing NIPT and the specific test undertaken, the shortfalls in PPV cannot be underestimated or dismissed with Downs either. Additionally many NIPTs promote themselves as all-singing-all-dancing and “99% accurate” for several trisomies (Not exclusively Downs) and also genetic conditions which have minimal or no evidence based.

As my comments cite, if used appropriately where there is clinical need, with appropriate counselling and support, NIPT is a useful tool and I do not object.

Also, I draw your attention to more recent research (there are numerous medical journals) which consistently place serum screening combined with ultrasound as anywhere between 95-100% effective at detecting trisomies. This medical journal estimated Downs can be detected in 97.5% of cases for instance.

www.sciencedirect.com/science/article/pii/S1028455918301323

I had the NIBT and it came back 1:10000 but at 12 wk scan the NT was 4.8 - after a CVS and amino my daughter had mosaic Down syndrome so I would not bother with the NIBT from my experience but everyone is different

Our fetal DNA was 17%

@ruthsoph
The nhs certainly don’t recommend it if NT is higher than 3.5mm anyway as that can indicate other conditions bar the main 3 and invasive testing is necessary.
When NT is wnls and it’s just the blood work it’s consider more acceptable further screening, as far as I understand.

We got a 4.7mm nt result at 12 week scan the hospital we had this at suggested harmony however when we got to the fetal medicine unit in central London they dismissed that idea and insisted that we go for CVS so that backs up on a previous poster said. But it seems that there can be advantages to both

Hi OP,
I just wanted to say do both. I lost a girl in October to T18 and we decided to try again. We paid for NIPT as you can imagine, we wanted to rule this out ASAP with this pregnancy so we could enjoy it. Luckily, it came back as Low Risk for any of the three trisomies but I also wanted to do the combined test to find out if my placenta is functioning correctly. My PAPP-A levels are low which means I need extra scans and tests to ensure the baby develops and grows as it should. The NHS screening is free and the blood test takes 10 mins. There is no reason to skip it!

The NIPT is getting a bashing here.

I had one at 21 weeks (after being low risk at 12 weeks) after scanning a small baby. Had lots of tests for all sorts and was left with being offered an amnio which I declined as there is risk of miscarriage.

At that stage we then discussed the NIPT test. We had it done and it came back high risk t21. The consultant then worked out our odds of it being a false positive and let us know. At no point were we told it was conclusive or diagnostic.

We did not want an amnio as there is no way we would have terminated anyway so to us it didn't matter what the diagnosis was.

The NIPT has a really important place.

I read all the info at the time and knew it wasn't diagnostic or 100% accurate and the consultant backed it up with her discussion. People who haven't realised that when taking the test just haven't bothered to read up.

@PrayingandHoping I feel like the context is getting lost from the OP. The posts I have made are not about “bashing NIPT” so much as the manner in which it is often being rolled out currently. It is nice your experience seems positive but sadly this is not the typical. I attach an image depicting what I would consider to be fairly widespread typical comments on these forums as an example.

OP had asked if at 10 weeks pregnant, with no risk factors, should they have NIPT for the sake of it to help with anxiety levels. Many people on this thread, and others do support such use and are genuinely of a view the test is conclusive and diagnostic - and even comments have been made to justify termination in instances where statistically a healthy baby would be the likely outcome. Likewise there are many health professionals who appear to lack appropriate knowledge and training who also deliver similar messages. Unfortunately this is widespread and THIS is the problem.

Your circumstances are within the context of a high risk and furthering assessment - with specialist support and guidance. That is VERY VERY different.

As stated throughout all my posts, it isn’t about objecting to NIPT or disputing there being merits to such a test - or saying an informed person cannot take the test. I think those who have interpreted comments in that sort of way or taken offence, should take the time to read what’s been written and the very genuine concerns so many people have.

I have read your comments. I do get what your saying and this is due to people not researching and understanding the test. Nowhere have I read the test claim to be diagnostic

I did read somewhere the test doesn't take into account age. Actually it does when they are working out the likelihood of false positive

This test is better than the current 12 week test that the nhs use. It is more accurate than that test. But is it still not diagnostic and only should be used at any stage as an indicator. If u want to know for sure the ONLY option is an amnio or the like.

I was actually offered it at 10 weeks. Read the literature and understood it. Declined it.

@PrayingandHoping I agree with what you say. For me it is about being informed not only about NIPT but diagnostics and screening as a whole. Very few people seem to be as many have never had to be.

If managed appropriately I think NIPT can be a useful screening tool - and in some instances it still is. However the fact it is largely privatised and promoted as “over 99% accurate” mean that people will generally interpret it as diagnostic. Likewise companies are looking to promote it for profit and are not necessarily concerned with or understanding of the far-reaching ethical implications.

I think both NIPT and triple screening have their benefits and places In detection. However as screening is incorporated into the NHS, has been routine for so many years. Any screening tool that is not regulated and supported appropriately can be dangerous.

To be clear I also acknowledge all tests including CVS and amniocentesis have considerable limitations as you will have also read in my comments. The screening/diagnostic process is far from straightforward and usually takes until at least 20 weeks, often beyond to get proper answers (sometimes answers are not clear until after birth). I think this, coupled with people interpreting NIPT as diagnostic from 9 weeks gestation means often the turmoil faced in pregnancies identified as “high risk” for abnormalities goes far beyond what people realise.

I had the NIPT in both pregnancies. It is a screening test, it's just a better screening test that the one currently offered by the NHS. I had no clinical need to take the test, I just preferred to take the "better" screening test.

If I had been given a high risk result I would have gone for for a cvs/amino. The fetal medicine centre where we had it done offers this as part of the package in the event of a high risk result. I would have taken the advice of the doctors and weighed up my options.

Any screening test (including the nuchal screening) will result in false high risk results which will then require further investigation which will take time.

The issue here appears to be the words used to promote the test by some private providers. If certain unscrupulous providers are describing the test inaccurately that is unhelpful and they should be challenged but it's not a reflection on the test itself.

I find it hard to believe that the NHS would be offering a termination for medical reasons based solely on the results of NIPT. Even if a NIPT is performed privately the reality is that in the event of a high risk result the woman will revert to the NHS in most cases who will advise further testing.

A friend received a high risk result from the NHS screening for DS. She then had a very anxious wait for the outcome of the NIPT. That would have been avoided if she had gone straight to the NIPT. There is no right answer, only personal preference.

It would be helpful if the NHS provided more advice on the topic and either provided the test (at a cost) to all who wanted it or referred women to providers who were clear about the limitations of the test and it's implications.

@Sunshinegirl82 Whilst I don’t dispute some of your points, I beg to differ on numerous conclusions you reach.

You only have to read through the comments on here to know many people have been misinformed about NIPT - do and have been pressured to terminate unnecessarily.

Yes Downs is the more reliable of the NIPT screening tests. However basic research around this tells you that even with Downs screenings, the false positive rate is anywhere between 20- 50% depending on both the particular screening test and the clinical group accessing it. Thus to assume/claim your friend would’ve avoided stress by going straight fro NIPT is extremely naive imho.

Additionally Downs is the more reliable of the NIPT tests. I can tell you from my own experience that when serum makers indicated high risk for Edwards and I was told my baby was likely “incompatible with life”, I was initially recommended by NHS professionals to consider NIPT. This would’ve, from statistics likely given a 70% false positive screening. Having spoken to others in similar position who have gone down this route, many have been pressured to terminate and quoted “99% accuracy”. This is awful when statistically false positives so heavily outweigh any meaningful detection due to poor PPV.

Downs, Pataus and Edwards are at least the trisomies that have been subject to more rigorous NIPT research. Many of these tests promote 99% accuracy for conditions which have no evidence base and are not held to account for misleading advertising.

Indeed even to think it is as simple as CVS rules out trisomies is also naive. CVS has only roughly 75% PPV. And even amniocentesis is not conclusive. Hence all these people who get high risk results from as early as 9 weeks may have 2-7 month waits to gain meaningful answers through more accurate diagnostic processes - and statistically in the case of NIPT these occurrences are a LOT more frequent and do not have the appropriate guidance and support in place as a standard. Many simply cannot tolerate that level of prolonged stress and uncertainty, many are misinformed - or a combination of both.

I think it is one of those where if you have the process, a good outcome, are informed, you view the test positively. And indeed in circumstances like yours it can be - I don’t dispute that. Nonetheless I have seen first hand that this is not embedded and widespread. As you can see on these forums alone, many people lack basic knowledge.

@SarahD19 the point the previous poster is making is that the NIPT is undoubtedly more accurate than the current nhs test that is offered at 12 weeks. It's not at all 100% accurate but it is better.

In her friends case she got a high risk with the nhs test and a low risk with the NIPT. If she had just had the NIPT she would never have had the stress of the high risk result as she would have only had the low risk

In my case I had the security of a low risk nhs result which was wrong! 🤷‍♀️ however for us we would never have changed anything and all it did was have the doctors prepared when we had our baby for support.

The NIPT test is without question better than the current nhs 12 week test. No one is saying it's diagnostic or 100% accurate. No one should be considering termination off the result. It should be treated just as the current 12 week test. An indicator as to whoever further tests and support is required

But none of this is anything to do with the actual test. The issue isn't NIPT it's the way the results are interpreted by some (not all) people.

All of your issues surround the way in which the test is marketed and that people are not well informed about pre natal screening generally. Of course most people are not informed about these things, most people will have uneventful pregnancies and give birth to healthy babies. If an issue is identified then they understandably trust medical professionals to guide them. Everything I've read regarding NIPT makes clear that it is a screening test and is not diagnostic.

The majority of people who have NIPT will have a low risk result and will therefore be reassured. Those that get a high risk result obviously will not be but that is an inherent risk of any screening test. The only way to avoid that would be to avoid all screening altogether/until the 20 week scan.

My friend absolutely would have been saved the stress of the wait if she had gone straight to the NIPT as her NIPT result was low risk which was sufficiently reassuring for her to continue with the pregnancy without further testing. Her DS was born with no genetic issues.

I am all for people being given more information but this isn't really about the NIPT. People are given very limited information about the nuchal screening, if they receive a high risk result there they will then have to start on the journey of further investigations if they choose to do so.

I would support further regulation around the provision of NIPT to ensure that those that provide it give appropriate information regarding the test and can demonstrate that they have appropriate ways of assisting those who receive a high risk result in obtaining further help. Again, that is nothing to do with the actual test. It's a very good test.

@PrayingandHoping and @Sunshinegirl82 it seems you are misconstruing the points I am making and basically making the exact same points I have already made - and voicing that you have had positive experiences of NIPT. None of this brings anything to the points I have made.

I won’t keep repeating myself as I feel I have done this enough on this thread and many others. You are correct in identifying that my issue is not about disputing the science of NIPT (I have already said more times than I can count that it is valuable for screening if managed appropriately) and you are absolutely right that my issue is in the promotion of NIPT and where this sits within the context of privatisation and misuse as it is not adequately supported within the NHS. This is why I started a thread on this issue called “Worried about NIPT Promotion” and not “I hate NIPT and disagree with science” 😂

My point is that whilst YOU both personally have felt informed and supported, which is good - this is not entrenched. Likewise, whilst your friend may have felt reassured having a negative NIPT result for Downs, thousands and thousands DO NOT have such experiences and are often put through months of gruelling diagnostics, or pressured to terminate their pregnancies based on how poorly managed these tests currently are. The combined screening sits within an NHS framework which is regulated and is not promoted as diagnostic - which is why whilst I don’t dispute it caused anxiety (and has done for me personally), there is accountability and a context to support women facing such anxiety.

I am thrilled you have had these positive experiences, but it comes across you are underestimating the harm of how these tests are managed/promoted because you have not been directly impacted. I have also not been directly impacted, but my eyes are open to the dangers. And yes, we are agreed, many of these dangers could be prevented if the adequate supports and accountability for providers were integrated - but the fact is they are not. Hence the very real harm caused remains an issue.

Maybe it's the way your posts are coming across.... because they do have a real negative attachment about the NIPT that you don't agree they should be used.

I have read these boards and haven't come across anyone who on the basis on a high risk NIPT was recommended a termination by a health professional.

Yes I have read misinformation with people perceiving they are diagnostic. People have to take responsibility for themselves to understand a test. I did not have to read and research hard for hours to find out the limitations of the test. The information is there for all to see.

I think the issue might be that this doesn't come across very clearly from your posts. When you talk of people being "pressured into terminating" babies that you say might be healthy that is very emotive language.

In addition I think you conflate the issue of the trauma caused by long additional screening processes and the limitations of NIPT. The former is likely regardless of the screening test taken (NIPT, triple test, quadruple test).

There are plenty of reputable places to have the test done privately (for example private clinics attached to NHS hospitals). I'd suggest if people are interested in paying privately for a superior screening test to that which they would receive on the NHS then guidance as to the best place to go for that test would be helpful. There is no suggestion in your posts of how people might avoid the issues you raise other than not to have the NIPT but they can be avoided if you do research and select the clinic you use carefully.

@PrayingandHoping cross post!