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?

@PrayingandHoping precisely. OP felt anxious in early pregnancy due to previous loss so was seeking early prenatal testing and scan to alleviate said anxiety. Directly following a number of people also alluded to NIPT being practically diagnostic and encouraged her to bypass her 12 week screening.

The above is what prompted my original comments. And as my pp points out, this is very different to a clinical need being identified (such as high risk) - and the comments below the op clearly demonstrated that many were misinformed regarding NIPT, which again is an area of concern.

I don't think you will have any impact at all on the NIPT industry. I do think as @MajorFaffington says you could have a negative impact on the individual women who post here and read these boards looking for information about NIPT. Your posts are not balanced, you may mean them to be but that is not how they come across. Several posters have made the same comment, it's unlikely we've all cone to the same incorrect interpretation.

I had the NIPT at around 10+5, I received the results at around 11+5/6 so very close to 12 weeks. I would be surprised if huge numbers of women are getting NIPT done much before the 10 week mark.

I would never have been satisfied with the combined test as a sole method of screening. If I had been deemed low risk by the combined test I would still have had the NIPT. If I was deemed low risk on the combined test I wouldn't have been eligible for the NIPT on the NHS anyway and would have needed to obtain the test privately so what's the difference. This is all just semantics.

@sausagefingersH I agree. And completely understandable in that context as you have laid it out, as long as you were adequately informed. My worry is that sometimes within the hype of all the promotion, some health professionals do not give balanced feedback as have certainly seen this myself. Wishing you a healthy pregnancy if this is a current as opposed to past situation you refer to.

@Sunshinegirl82 I held off responding to your posts because you increasingly seemed to be making unfounded accusations, assumptions and ultimately twisting what I have said. E. g. Saying I claimed serum screening is superior to NIPT and suggesting I have said people do not have their right to make a choice to access private testing. Actually my posts are all about choice, but also acknowledge that the scope for genuine choice is limited in an ethically unsafe culture where misinformation is rampant.

None of your claims had been asserted by myself and it felt you were projecting a lot of negativity on me tbh. As I’ve said I think it is a shame you resort to this as fundamentally I thought we had agreed that the current NIPT promotion is not well regulated and can be harmful.

I have acknowledged multiple times, despite claims to the contrary, that NIPT can be appropriate. I have said I find the science new and exciting but simply feel the test needs to be managed more ethically. In fact I would challenge any of the people claiming my posts are negative to demonstrate any positives I have failed to acknowledge in my posts - because so far I’m at a loss to see that.

I do think people reading who have positive associations of the test take offence in many instances where they have had the test, seen all the positive promotion and felt they had a positive experience/outcome. That is understandable. However perhaps this needs to be looked at within your own biases? As someone who has not taken this test I have no agenda to push from that respect.

I think it is important we take discussion back to the actual points raised - the case of OP, the context and the initial wave of misinformation - the OP’s circumstances are very different to what you and others are bringing in terms of both risk and the evidence of accurate information, and do not fit the contexts. I felt there was a duty to also provide accurate information to the OP.

Hence I bring discussion back to my original points. I know you dispute, or at least appear to underestimate the degree that medical professionals misinform - and deny the experiences that I know have occurred for many, can and do continue to occur. The first article below in particular cites many people who through the NHS (and seemingly “reputable clinics” which have been promoted by commenter here on musnet), have been pressured to terminate unnecessarily or were provided misinformation. It is not about me using “emotive language” to offend, I haven’t made points that aren’t backed up by facts. So I will leave these there for you.

I think where we fundamentally disagree is the level to which these ethical implications impact. For all the positives NIPT can bring (which I have repeatedly agreed with you and other posters on), I do not think we can ignore this problem. And I do think with the mass hysteria and greater investment behind NIPT promotion presently, the problem is growing and requires people to speak out more openly.

www.nuffieldbioethics.org/blog/nipt-private

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

www.itv.com/news/2019-11-20/ads-for-three-prenatal-genetic-test-firms-banned-for-using-misleading-statistics/

@SarahD19 I'm not sure you realise how contradictory your posts are and the tone of them is negative

"1) I have already shared scientific journals within discussions which clearly demonstrates the existing combined screening and targeted ultrasound can be extremely effective without use of NIPT. The model is robust and as even the most recent research clearly demonstrates NIPT, although not disputing some benefits, cannot safely replace serum screening and so cannot be described as “better or superior”. molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-019-0457-x"

From your post yesterday afternoon. This states you believe the NIPT is not better than the current nhs test. This is just fundamentally wrong. And tbh is disagreed with by nhs professionals in many departments that I have personally spoken to.

None of us are twisting your words.

I am happy to accept and don't disbelieve that there are private providers that don't run the test in an appropriate way. Yes this needs looking at. However you posts come across as dramatic and quite inflammatory language in places which would be enough for people who read on here to think that the NIPT is not a positive thing

How about simplifying your language. You point (as I can make out) is to encourage people to make sure they thoroughly read the literature on the test (which is readily out there) and ask the provider in advance what the protocol is after the test if people were unfortunate enough to have a high risk test. That would be simple and helpful to people.

@PrayingandHoping stating that the evidence base does not currently support abandoning an established system such as serum screening and targeted ultrasound etc without first establishing a clinically safe system in which NIPT can be administered in place of serum screening, does not equate to saying I think serum screening is better. I actually advocate that there are merits of both - which is middle of the road and fairly balanced when you look at the literature.

Likewise if you think the current system in which NIPT is administered is superior then that also suggests limited comprehension on your part - and a lack of willingness to accept the holistic picture in a balanced way.

Your comments indicate you engage in black and white thinking - and/or that you are biased towards NIPT which is a huge issue.

Indeed perhaps my time is indeed wasted trying to reason with you and others on this page. Sad times.

I am giving my view based on speaking on many health professionals (who work in the nhs!) of which do not agree no that the current format works adequately as it could. They believe that the current 12 week nhs scan should be replaced by the NIPT. That does come with scanning though. (I have also never seen NIPT offered without scanning)

I don't have limited comprehension at all. I am not biased. I have been through the system and have experience and understand it's limitations and can see how it can be improved as I have stated.

@PrayingandHoping this is part of the issue. I’m not disputing your personal experience and what NHS professionals may have said to you.

What seems to be little understood is actually how well the serum screening and NIPT can sit alongside each other - particularly with targeted ultrasound, in order to aid detection. NIPT has very high sensitivity when high risk is already identified for instance, but lacks accuracy amongst the general population where PPV drops dramatically.

It isn’t “either or” there are merits of both as they are different tests. I pray for a time that they will be better integrated as the narrative one must be superior actually undermines efficacy of both screening tests! If used responsibly they have fantastic combined predictive value. For instance I take this excerpt from one of the medicals journal I shared:

“ Many indicators in our study could reflect abnormal fetal development, such as positive serological and NIPT results, women of AMA, abnormal ultrasound findings and a history of abnormal pregnancies. The most frequent related indicator was a positive serological finding (102/204; 50%), followed by women of AMA (78/204; 38.2%), a positive NIPT (59/204; 28.9%) and abnormal ultrasound findings (42/204; 20.6%).”

I would add I previously worked in the NHS, have extensive first-hand experience of Fetal Medicine and also know many people personally who work in Fetal-Maternal services within the NHS. As I have said, there is misinformation throughout which is a huge issue. The fact you have experienced NHS professionals as telling you that NIPT alone is more reliable than all the current systems in place is a concern, and actually strongly reinforces the points I am trying to make (seemingly quite unsuccessfully!)

@SarahD19 I think there will always be a different response to your posts from people who have not dealt with a high risk NIPT outcome. For them, the NIPT was the point of closure, and a blessed release.

I had a TFMR last year at 16/17 weeks due to DS (my screening included a high risk NIPT followed by amniocentesis) and totally agree with you that there is a lot of confusion around the meaning of a high risk NIPT result and also the information around first results and long term cultures from the invasive tests.

When I asked about the false positive rate in the high risk T21 NIPT result, for example, I was told it was so unlikely that the consultant had “never seen it happen” and at least 2 midwives quoted the “99% accuracy” stat to me in response to my question.

I’m a mathematician by training so the lack of clarity available to answer my question made me feel incredibly uneasy, to the point that I was quite frightened to take the NIPT test again in a subsequent pregnancy in case of having to deal with another high risk result and the ensuing chain of wait-and-see for weeks and weeks.

I think the pressure to terminate comes from the fact that as time goes by the termination process itself becomes so much harder. Waiting for an amnio and getting a bad result means that a woman will likely need a medical termination and go through labour and birth. Hence the desire to decide early, even if there is still a bit of uncertainty. And if the uncertainty isn’t fully described... well, that’s a bad situation.

I appreciate the work you are doing trying to get this information out. I wish I could have read the links you provided when I was dealing with these questions myself.

Re the invasive tests, I vividly remember - after my termination following the initial amniocentesis result - an appointment with a midwife where they told me they had the long term culture results back and “the initial results were confirmed: your baby did have T21”. My blood ran cold and I said “You mean there was a chance he might not have, when I ended the pregnancy?”.

I still don’t fully understand the uncertainty around amniocentesis testing/initial results and I’m hoping now not to need to research these questions ever again!

@fretnot Thank you so much for your contribution and I am so sorry you have experienced this. Sadly this is something that is not as uncommon as people think.

Like you I am very mathematically minded and logical in nature - and I do think that there is a risk I possibly confuse/overwhelm people who do not think in similar ways. I’ve tried to break the messages down.

I really hope for reform and change. However “rare” your circumstances, the many others who have shared similar experiences (or even my own) may seem to people in the bigger picture, the sheer trauma is not excusable by any means. Screening and diagnostics require improvement and reform - and I will keep speaking out even if it makes me unpopular 🙈

Sending lots of positive wishes your way. My heart goes out to you X

@fretnot I DID have a high risk NIPT result (after a low risk 12 weeks result)

@SarahD19 the nhs professionals wanted the NIPT test offered to all as it IS more accurate the the current 12 week test. That isn't to say elements of the 12 week test aren't useful and wouldn't be run.

Currently (as an aside) it is something people have to pay for in all but a few areas. If you do not have several hundred pounds available to you you have no option but to go from the more inaccurate 12 week test high risk result straight to a diagnostic test that risks miscarriage. That imo is horrendous.

@PrayingandHoping that imho is a distinct although not all together separate issue. As I have acknowledged within my posts (repeatedly) in the event of high risk NHS screening, that is an identified clinical need supported by evidence. In many trusts (but not all) do already offer NIPT as it is acknowledged that a negative result can provide clinical reassurance in the event of a negative result.

Additionally, recent clinical research indicates the likelihood of miscarriage directly related to invasive procedures is actually quite inaccurate and greatly overestimated. Much of the research is out of date but still scares a lot of people. However having experienced invasive tests myself, I totally understand why many would want to avoid this.

It probably wouldn’t surprise you to know I have my gripes around invasive procedures, particularly CVS and how these are rolled out. Placental-fetal discordance and mosaicism are generally not adequately explained. Again people are told that CVS is “more than 99% accurate” when in fact the differentiation between short term and long term cultures are often not explained. And PPV is generally around the 75% mark due to a range of complicating factors including confined placental mosaicism.

The case only a few months ago in Ireland is a clear example of how poor management of screening and diagnostics from NIPT through to CVS resulted in a healthy baby being terminated. And as @fretnot discussed, this is often also linked to termination timeframes and the complexities around these meaning people feel pressured to make decisions without the right information. For instance many people simply cannot face or feel overwhelmed at the prospect of compassionate induction and having to give birth when TFMR - and this may be the only option available in many areas (such as my own) from 15 weeks.

Amniocentesis is also far from infallible. Yet people have continually cited on this forum that amniocentesis lets you know “for definite”. Even amniocentesis has just over 90% PPV (when all factors are accounted for) - and full test results take 3 weeks. Many trusts only offer the procedure from 15 weeks.

Sorry just read my comment. First paragraph should conclude that a negative/low risk NIPT result when clinical groups are identified as high risk, can provide reassurance and clinical validity.

The joys of typing one-handed and feeding a toddler 😂

@PrayingandHoping I completely agree with everything you have written.

I think where we fundamentally disagree @SarahD19 is with what is helpful and practical advice to people within the current system as it exists.

Your posts are contradictory. Honestly, I am not a stupid person and I read complex texts and arguments for a living. The way in which you are expressing your points is not clear. I don't say that to be purposefully difficult but because I do consider that your key point (that private providers of NIPT should be held to a higher standard and that there should be more widely available information about the accuracy and limitations of NIPT generally) are good points but they are completely lost in these posts.

When you say I have made unfounded accusations I am honestly only trying to distill from your posts the point that you are actually trying to make.

In this instance the OP was considering NIPT as she was anxious. Perhaps a helpful response that communicated your concerns would be something like:

"The NIPT is a screening test and is not diagnostic. If you receive a low risk result using this test that is a very reliable (although not guaranteed) result. If you receive a high risk result this is much less reliable and you will need further diagnostic tests (such as CVS/amino) before any firm conclusions can be drawn.

These tests cannot be carried out until later in the pregnancy (over 16 weeks). It is also possible that you may need to wait for the 20 week scan to be performed. Some people find the additional wait caused by having the NIPT earlier than 12 weeks to cause additional anxiety in light of this delay so you may wish to bear that in mind when considering the timing of the test.

The NIPT is offered by lots of private providers and they are not all equal or always completely upfront about the limitations of NIPT. It is important to do your own research into the test and ensure that you choose a reputable clinic.

A scan should always be included and I would ask questions of the clinic about how a high risk result would be communicated to you (post/email/call) and what support is in place for you in the event of a high risk result. I would suggest that you ideally want to be speaking with a dr/consultant who can channel you directly back into the NHS if necessary. This sort of service will probably require you to pay slightly more. Is there a private clinic attached to your NHS hospital? They may be a good place to start,

The combined screening offered by the NHS has additional benefits over and above the NIPT (for example it looks at your Papp A levels which can be an early indicator for pre eclampsia/poor growth) accordingly whilst you are often told by midwives that the combined screening is not necessary if you have had a low risk result from NIPT, you might want to consider having both tests to obtain the maximum benefit."

I would suggest the headline issue of "tackling" unscrupulous NIPT providers is something that should be addressed at a higher level. I will write to my MP and bring it to his attention. Perhaps it would be helpful if others did the same. Those with poor experiences should report the to the CQC. Perhaps a petition might also be useful?

I've just reviewed your first post on this thread:
*
I hate to be negative but I have serious reservations regarding NIPT. I know people who have had them who have then felt bullied into termination - then later found out they’ve aborted on what would actually be a 30-40% risk of anything being wrong if even that - yet had believed the misleading representation that it is 99% accurate. It breaks my heart and I feel so strongly it is a money driven scheme in some instances.

If there are medical reasons for it, and you would feel confident being told at 10 weeks your baby could have a fatal condition - and happy to wait another couple of months for tests that would have any real diagnostic validity, go ahead. It is a personal choice. Having lived through the heartache of screening processes following a scan at 13 weeks and the heartache of a drawn out process from there, I know, personally that the NIPT would not be for me. And personally I wouldn’t find it worth the paper it is written on due to the heartache and trauma I know these tests cause.*

Look at the language:

"Hate to be negative"
"Serious reservations about NIPT"
"Bullied into termination"
"NIPT would not be for me"
"I wouldn't find it worth the paper it's written on"
"Heartache and trauma these tests cause"

Reading that back do you honestly consider that to be a balanced view on NIPT?

At no point do you mention that if you get a low risk result this is very accurate and will therefore be reassuring. I appreciate this is mentioned in later posts but only because this one was challenged.

@Sunshinegirl82 I am absolutely entitled to my personal views that I would not want the NIPT for myself, from my own experiences and research. Just as you are entitled to your views that the test is positive to you and you can choose to take the test the same way anyone else can.

If you cannot separate that I can have my personal feelings and this can also sit alongside or separate from the clinical evidence, again this is your logical fallacy. If I had stated “the NIPT has no clinical relevance and no one should take the test” that is entirely different.

It comes across that pretty much what you object to is that I do not agree with you and share your feelings. We do not have to agree, but that does not make the clinical findings or concerns raised any less relevant.

And yes, there are multiple reports of people feeling bullied and pressured into termination based on NIPT. Posters on this forum have shared their experiences of being misinformed and I have cited other occurrences. And I have mentioned about 5-6 times about the low risk results from NIPT - and not due to “being challenged”. I have consistently described it as a balance/gamble considering the reassurance low risk can provide, versus the risks of false positives and the excruciating experiences these create.

I cannot help but feel you are getting inappropriately personal and continuing to misrepresent and twist what I say. How much of this is conscious, I do not know, but whilst this continues I shall not be responding to you.

Perfect @Sunshinegirl82

FYI My comment on the first page of this thread.

I have copied and pasted your first post, those are your words. You may have qualified that later but that was your comment. I am not alone in my interpretation of your comments. Either, several of us are conspiring to deliberately misunderstand you or your posts do not come across as you intend.

I challenged you about the accuracy of a low risk result on the previous thread, I hadn’t seen you mention it before that.

@MajorFaffington actually I have acknowledged the merits of NIPT risk assessment in terms of low risk results in multiple discussions and threads, including several of my own threads, in some instances several weeks previously to our other encounter you refer to.

Yes I have posted a lot of information, and as I acknowledge, cited medical literature which it is evident people on here have either not understood or taken the time to read fully - or simply overwhelmed with information. I have to take some responsibility for that.

The point I make is the context for everyone is different and we have to go on the clinical evidence. Recommending bypassing NHS screenings and additional early tests where there are not identified risk factors - is indeed contrary to good practice. And that is where this thread originated - deflection and getting personal does not change that.

The experience you cite of high risk Downs and using NIPT for reassurance has a much stronger evidence base than someone classer as high risk for Edwards. The clinical groups are worlds apart in terms of prognosis and management of risk - thus our outlooks will vary, as will our own values and decisions.

Because if you tell your midwife.... as people on here have said... that you have already had a low risk NIPT... they don't seem to then do the blood test part of the 12 week scan. Which is always optional anyway! They do however scan you.

It's not just people on hear saying it. It's what happens in real life.

And just because people aren't agreeing with you does not mean they haven't done full research into something or lack understanding. That is v condescending.