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?

No, there's no point having the 12 weeek triple test if NIPT comes back low risk. It's worth having the NHS scan though as that will probably be what they want to use to confirm your due date.

I'd still attend the scan itself but just wanted to confirm that the NIPT bloods would trump the 12 week bloods if everything came up as low risk. I find blood tests quite stressful as they I get faint and sick afterwards so don't want to have more than necessary!

Yes, NIPT is close to diagnostic so more informative than the triple test. I've had it in 3 pregnancies.

@Chanel05 the NIPT test def trumps the nhs screening test. Our nhs screening came back high risk because of my low papp-a so my consultant put me forward for the harmony test. This came back low risk thankfully, but we had 10 very stressful days. Next time I am pregnant I will go straight for the harmony test at 10 weeks because of the worry the screening results caused me. The only thing I would say is that the screening test picked up my low pappa and because of that I am being offered extra growth scans and prescribed low dose aspirin. Not sure if this would have been picked up if I didn’t have the screening tests? It might be worth checking that with your midwife?

Thank you very much :). I'm toying with it as I'd get a scan with it also. Had a full panic attack at my last scan (trauma from being diagnosed with a mmc in last pregnancy) so want to try and overcome the fear.

@Chanel05 I would go for it and it’s what I will do next time too put mind at rest. We also had the chance to find out the sex of the baby from the harmony test too 😊.
So sorry to hear about your MMC, I haven’t been through that but it was something I was very worried about, so can imagine how anxious the experience would have made you. I wish I could just be someone who enjoys and is able to relax while being pregnant but I am too much of a worrier!

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.

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

@SarahD19 thank you so much for sharing that information. I have to say that I was advised by my midwife and reassured by my consultant to take the harmony test (which was offered at my hospital) following high risk for DS. I was told that although it’s not a diagnostic test it is pretty accurate for DS. Thankfully my results came back low risk but had they had come back high risk, I was lead to believe that the baby most certainly would have DS, however as everything was fine in the scan they would then offer me a CVS to be sure. I also saw a private consultant who again told me how reliable the harmony test was. So sorry for what you have been through and thanks again for sharing that information, it’s very insightful.

@missdrifter there is most certainly a lot of misinformation around NIPT and diagnostics, even from health professionals themselves.

I had been recommended NIPT and told it was 99% accurate after high risk for Edwards was identified at 3 months (The statistics actually demonstrate only 30% validity for NIPT for Edwards). I opted for CVS which also I was told was over 99% accurate in diagnosing my unborn baby.

I researched and realised Edwards was increasingly researched to have higher levels of mosaicism and zygotic rescue - which meant babies can be healthy even with this result. I pushed for Amniocentesis although due to delays/medical complications this could not be completed until I was 18 weeks. The week after I was informed the rapid amniocentesis was normal!

A long-term culture indicates my baby may have very low levels of mosaicism that were not even detectable at amniocentesis, and baby is completely healthy even in final trimester scans now, to the point the Fetal Medicine department have now transferred my care back to my local hospital.

All I can think is along the way I have spoken to so many people who have been misinformed and felt bullied into terminations. It makes me so emotional to think if I hadn’t made certain choices, I may have terminated a healthy, much wanted baby....

I would highly recommend doing both the NIPT and the combined test - the combined sometimes can pick up other irregular things that the NIPT doesn’t focus on!

I’m in absolute turmoil.
Had the call from the midwife: high risk of 1:47 for Down’s syndrome.

Hcg 5.0MoM
PAPP-A 0.6MoM
NT 2.1mm

Nasal bone seen and all normal on scan including blood flow through the ductus venosus.

I’m 33 so wasn’t expecting such a bad result but it’s high due to the high hcg and low PAPP-A.

I’ve had the harmony test and it’s come back low risk

Im in a similar position - I've been told I've a 1:61 chance of DS and I have low PAPP A. I'm also 33. I think my risk was because of my age, PAPP A and NT.

I didn't think to ask for the actual numbers but I'm going to call back tomorrow and ask.

I've decided to have the NIPT as another screening test and if I come back again high risk for DS then I will have the amniocentesis. If it comes back low risk then I won't.

@Sarahlouise86
I’ve been reassured today by the fetal medicine specialist that the harmony is really accurate for a negative downs detection like 99.9% - so it’s really reassuring if you get a negative result. Keep us updated x

Thanks @Paranoidkaty, that’s good to hear. The lady I spoke to on the phone was really negative about the NIPT and seemed keen to discuss the amniocentesis as quickly as possible saying that If I was considering abortion then sooner is better 😯 I told her I wanted to look at all the options and after doing some reading it does seem that the NIPT is reliable for negative DS results so that it seems like a sensible screening test to me.

After being reassured today are you feeling happier with not having an amniocentesis as well? You’ve come back so low for everything, so in my mind I’m not sure I think the risk is worth it (even though the miscarriage risk is so low). X

@sarahlouise86 my nhs combined test was lower than yours at 1:47 but at the fetal medicine centre this was adjusted to 1:1338 after they include detailed scan information too such as nasal bone and a small vessel in the abdomen.
But I couldn’t get the 1:47 out my head hence the harmony and yeh it was

@Sarahlouise86 sorry to hear you’re going through this. Thinking of you.

Tbh I completely understand what you’re saying on both sides. Although it sounds like the person you spoke to on the phone was perhaps not the most sensitive in how she worded things, I have to say I do feel reassured it has at least been explained to you that NIPT is very different from amniocentesis and is not diagnostic - and is clearly explaining it would be inappropriate to terminate based on NIPT. Many people I have spoken to seem confused and sometimes even see the tests as equivalent, which is a great concern.

Amniocentesis, is by a long shot, the superior test and will tell you a lot lot more than NIPT can - and can point towards an actual diagnosis.

Personally my experience has taught me to be quite anti NIPT just because I have seems it overused so much and abused to justify terminations.

There is a very high risk of NIPT providing false positives for a number of conditions. In fact Downs is pretty much the only condition it can identify risk for with anything more than 50% accuracy. Some conditions, it may only accurately detect at levels of 30%. In such instances many people are put through deep emotional trauma and told their is “high risk” their baby may be “incompatible with life” etc etc - even worse prognosis is many instances than Downs Syndrome. And all completely unnecessarily...

Whilst a “low risk” result from NIPT does have good accuracy (unlike “high risk” NIPT results), it is a matter of whether you feel the reassurance a “low risk” result may provide you, is worth the emotional turmoil of a “high risk” result. It is a gamble which only you can decide upon imho. Those who get “low risk” are reassured - but those with “high risk” results are often left extremely traumatised - particularly if they’ve been uninformed regarding the limitations of the test. This is made worse as many health professionals also do not explain these limitations...

I wish you well and hope whatever happens, your pregnancy journey goes well xx

I was 40, DH 45 when we conceived (41 and 46 at birth) for the first time (no previous DC). Age alone would have given us a pretty crap combined test result so we knew we wanted NIPT.

I got a 1/10000 result and the early scan looked perfect so I was very reassured. I was hugely anxious beforehand, convinced my pg tests were not true. I had my eyes tightly crossed at the scan until they told me there was something there and was ok and then I sobbed and sobbed
My 12 week scan was only 2 weeks after NIPT but at that time it seemed like a lifetime and we knew that if termination was going to be our outcome every day mattered.

I had the 12wk scan as normal but not the combined test, the hospital said that the Harmony result trumped the combined test as my scan looked entirely normal. Despite the normal scan my combined test result would be far poorer than the Harmony result so to do it would only cause me anxiety.

If the 12wk scan had shown anything abnormal then their advice may have been different? I would do the NIPT again without hesitation in my circumstances. I am not a fan of those very early “reassurance scans” as date confusion can only add to anxiety, but at over 10 weeks there is actually something to see.
Make sure you are well clear of 10 weeks before you have it though otherwise you may not get a result. I went at what I thought was 10+3 and they dated at 10+2. Although at 12wks I was dated further on again at 12+5. A friend had NIPT at what she thought was 10+1 but they did not get sufficient fetal DNA and had to have it repeated which was clearly stressful and she didn’t het her results until after her 12 week scan so has combined test.

Good luck @Chanel05

@Megan2018 everyone is different but tbh, hearing people say they take NIPT for “reassurance” is my absolute pet hate!

Having been through diagnostics and knowing in the majority or cases, foetal anomalies cannot usually be adequately tested and detected for prior to 20 weeks - and in many instances beyond - it is extremely clear to me that taking a test at 10 weeks and volunteering yourself for 2-3 months of emotional torture in the event of a “high risk” result seems alarming.

My actual diagnostic process took 3-4 months. And it took us over 2 months from the 12 week screening to get anything near “answers”. Harmony and NIPT sell a myth that diagnostics are simple and you can get answers and make decisions from just 9 weeks in some instances. To me this is dangerous science and endorses termination in a very risk averse manner that lacks scientific evidence base.

Whilst I appreciate you won the “gamble” in getting a “low risk” result and this may have come with reassurance, to me this can give a false sense of security. I don’t want to alarm, but if a 2 week window waiting til the 12 week scan was feeling like “a lifetime” to wait; I would seriously question how you would feel if you got a high risk NIPT result at 10 weeks and had at least 2 months to wait for any proper answers? If say you were told your baby was “high risk” for a condition “incompatible with life” and had that hanging over your head? This is a reality many people who have NIPT face.

In many conditions they (NIPT) screen for, their accuracy is below 50% detection - for instance Edwards (Trisomy 18) is just above the predictive 30% accuracy mark.

Yes the NHS screening is flawed. But at least you KNOW age is part of their calculations and can be reassured with that...

Just my thoughts and I don’t mean any offence. It just happens to be an issue I feel very strongly about. Particularly as I know people cite NIPT as 99% accurate and in many cases view it as diagnostic - and often health professionals do not explain the implications and limitations of the tests sufficiently.

@SarahD19
You do cause offence yes.

As I’ve said, I don’t mean offence. However the narrative that having NIPT testing early in pregnancy is always reassuring and accurate is extremely dangerous. I attach a number of articles for your reference, including a lady whose situation was similar to yours who is raising awareness.

Bottom line, NIPT only analyses cell free DNA. This can be elevated for a number of reasons (some actually associated with age), isn’t always accurately identified from the placenta. And even chromosomes from the placenta do not necessarily match the foetus. The science behind NIPT is exciting and new - but it isn’t complete and it is NOT diagnostic. NIPT definitely has a place within the context of assessing and managing risk, but currently no more than this. As long as people are aware that in many instances NIPT has more “false alarms” than accurate positive predictive validity and are informed, I have no issue. However to advocate it as a routine test for “reassurance” in the absence of major risk factors is dangerous - and the evidence base increasingly shows this.

As I’ve said, I’m happy your situation turned out well and you were reassured. But you took a gamble. That gamble unfortunately does not pay off for everyone.

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/

www.google.co.uk/amp/s/www.bbc.com/news/amp/stories-47150878

I’m really not interested and as it has little to do with the OP I’m sure they aren’t either. Start your own thread to push your agenda!

I would do the same again, if I had a high risk NIPT result it would have been straight to CVS. Any doubt and we would gave terminated. I don’t need educating, piss off

If you read I responded to OP already. I’m posting to help people reading this who may read comments like yours promoting NIPT for “reassurance” and be gifted one of the worst experiences of their life unnecessarily.

FYI, even CVS has only roughly 75% PPV. Issues such as vanishing twin, parental anomalies/mosaicism and placental mosaicism as well as many unknowns, mean false alarms occur...

Even with CVS a person may then need to wait another month on top of the 3 week wait following CVS, to consider booking for amniocentesis. For which no booking can be made until 15 weeks. Then another 3 week wait. That takes a person to 18-19 weeks pregnant (the point they would be eligible for anomaly ultrasound) before they would get legitimate diagnostic answers. Many simply cannot cope with the strain of this or are not even informed to begin with.

Ultimately NIPT gives false positives more than 50% of the time. It has extremely poor PPV with most conditions.

Sorry the limitations of science offends you so much. As I’ve said, you have had a right to your choice and I have not disputed that. What I do dispute is people saying to take NIPT at such an early stage of pregnancy for reassurance purposes alone. Knowing what I know, this is dangerous territory which could tip an already anxious person over the edge...

Sarah,

I am sorry that you had such a tough time following your NIPT test. I also appreciate that you are trying to be helpful and educate people, but you are giving a far from balanced view.

You acknowledge that NIPT is pretty accurate for low risk results, and for high risk T21 results, though it has a lower accuracy I.e. a greater proportion of false positives for the other 2 trisomies tested (whilst still “capturing” most positive cases, as I understand it).

By the very nature of the relatively low prevalence of these conditions, I am sure that the majority of people taking the test will get low risk results, and can take reassurance from that. For those that get high risk results, it is clear that further investigations are needed, and yes, this will take time.

For someone like me, who will be 43 by the time my baby is born (fingers still firmly crossed after a series of early losses), the NIPT results were very reassuring. Waiting until 20 weeks for any kind of reassurance would have been unbearable, particularly as the NHS combined test would most likely have given a pretty high risk result by default.

No, NIPT can’t test for a lot of conditions, and you still need to wait for the anomaly scan and birth to get a full picture (or even years later). No, it is not diagnostic. But it is helpful when properly used.

All the reading I did made it clear that diagnostic testing would be required to confirm a positive result. I believe reputable clinics and the NHS also both make this point clearly.

It’s fine to remind people that it is not diagnostic and not to base decisions solely on the test result, but I think you are being very misleading in repeatedly criticising the accuracy of the tests.

@Esr. Actually I am not discussing my experience as I have not taken NIPT. Hence your criticism that my “experience” is biased is a flawed assumption.

I have made people aware that in over half of incidents of “high risk” assessment, false positives are more common than accurate detection due to NIPT having less than 50% Positive Predictive Value.

I have also made people aware of what may be a “best case scenario” of maybe 2 months in terms of timeframes for actual diagnostics - and the importance of the timing of an anomaly scan in accurate detection of foetal anomalies.

As I have said, the above is a “best case”. It is not unusual for CVS or amniocentesis to not be viable due to a number of foetal, placental or maternal presentations. In such instances, such procedures are then postponed for at least 2 weeks.

Additionally any testing can be subject to contamination which can compromise its accuracy and cause delays, sometimes of many weeks.

Even amniocentesis which has over 90% PPV has its limitations and Fetal Medicine may feel the need to implement ultrasounds until the final trimester for developmental assessments.

Which part of what I have written is not factual? And which part specifically causes offence to you?

It is important people do known that tests like NIPT often force people into months of diagnostics (and overwhelming trauma), including a higher prevalence of termination for healthy foetuses.

If this offends maybe you aren’t as knowledgeable as you thought?

Why would you think someone needs to be offended to offer an alternative perspective for balance?

I have made my points, and stand by them, so won’t be commenting further.