Positive NIPT for T18

[DragonflyRuby]

I’m not sure what I’m expecting anyone to say on here but I suppose I need an outlet. I’m nearly 13 weeks pregnant and had the results from our private NIPT test back today with a High Risk for T18 Edward’s syndrome.

They called me this afternoon to tell me although I don’t feel like the lady giving the result was particularly helpful or knowledgable. She said their tests are 99% accurate however I understand from limited research this afternoon and a call with ARC that that’s not actually the case.

I have my 12 week scan on Friday when I’m 13 weeks so assuming the result is correct I believe there’s a high chance they’ll be able to see some abnormalities on the scan. I know the only real definitive way to know is with an amniocentesis.

Please share your stories of a high risk T18 NIPT, positive or negative. I just feel very alone at the moment and would like to know what happened to other people, Thank you.

Hi @DragonflyRuby

I’m so sorry you are going through this. My story was different in that severe anomalies were picked up on the scan first, and then a CVS showed trisomy 21, but I do understand some of the horror and devastation you are feeling.

I don’t know much about T18, but happy to talk about the CVS and anything else you want to know, if you like?

Hi @DragonflyRuby
I’m so sorry for you. I just got the same shock yesterday morning. The Concepto clinic have been appalling and after calling with the results and being unable to answer my questions they then failed to email my results through for hours so I couldn’t share them with my nhs hospital. I now have to wait a week for a scan and-depending on that- probably a CVS, as the very helpful consultant finally got to speak to this morning said that until I’m 12 weeks the results unlikely to be accurate. My understanding is that it is sadly very likely that our baby will indeed have Trisomy-18 but there are occasional cases where the test is a false positive. So we’re preparing sort of for the worst but clinging to a glimmer of hope.

There’s an incredible post by a lady who went through this a couple of years ago on here and did a huge amount of research while having to wait weeks for definitive diagnosis with an amniocentesis. Wonderfully for her it did turn out to all be OK. We know that’s unlikely for us given the statistics but I found her post incredibly helpful. I’ll search for it now and try to share the link (this is the first time I’ve posted on here though have really benefitted from reading what others have written over the last couple of years. I had a baby in my 40s (now a very bonny 2 year old) a miscarriage earlier this year and now this.

https://www.mumsnet.com/talk/antenatal_tests_choices/4405691-NIPT-false-positive-for-T18

here’s the link

I'm so sorry OP. This was me with my 1st pregnancy 8yrs ago. My NIPT showed T13, patau syndrome, which is equally as life limiting as Edwards. I used to work abroad part of each year, so it might be slightly different depending on the clinic/hospital here in the UK. My clinic booked me the following day for a more detailed scan- I was 12 weeks.

The NT was 6.4mm and there were obvious abnormalities on the scan. Sorry if TMI, but a cleft face, not just a cleft lip, but half the face. When pointed out, I could actually see this on the scan. A large hernia around the belly button, shadowing in the brain and other things which I wasn't aware of till I received the autopsy.

I was given the option of waiting to have either a CVS or Amnio, but given the results on the scan + NIPT, I chose TFMR. I assumed they'd do a surgical termination, but they did a medical.

I'm happy to answer any questions you have at all. Remember that you aren't alone and this is not your fault xxx

I’m so sorry you’re going through this too. Our results also came from Concepto. I asked them a few questions and their lab manager did call me again yesterday to answer them but I guess it doesn’t really help me. The only answer now will be from the amnio. I asked them to confirm the specific test they use, the PPV at my age and that the results had been double checked. She told me they use Illumina VeriSeq2, sent me a calculator for the PPV which is even more confusing as that says there’s a 49% chance it’s a false positive?!! And she confirmed that all positive results are checked by a partner lab before being sent out. I don’t know if any of that helps you. I can post the link to the calculator she sent me if you need it? Again I’m really sorry you’re in the same position.

We have our scan today and then have a meeting with the specialist screening midwife afterwards and she’s going to book me in for an amniocentesis test today for when I’m 15 weeks. We need the scan to confirm dates. I’m very nervous there will be obvious abnormalities on the scan but I just have to wait and see.

Thank you for sharing that link. I hope there’s good news for both of us too. Please keep me updated, I’ll be thinking of you.

I am so sorry that this happened to you. Thank you for sharing your story, it does make me feel less alone. I hope that you’ve since had some more positive news as you mentioned it was your first pregnancy (it’s my first too).

I have my scan today and am very apprehensive about what we’re going to be told. Trying to remain hopeful but pretty scared.

My story is a little different to yours, but I wanted to share.

At my 12-week scan, I was given 1 in 2 odds for Downs Syndrome. The nuchal fold was 4.3, and my blood tests were 6 times higher than they'd expected.

I decided to skip the NIPT completely and go straight for diagnostic testing. They couldn't do the CVS at 13 weeks due to the way the placenta was positioned, so I had to wait to wait for the amniocentesis at 15 weeks.

The wait for results was one of the most difficult times I had experienced, expecting the worst.

Our results all came back normal, with no Down syndrome or any other chromosome issue. The full microarray was also normal.

I then had a fetal echo yesterday at 18 weeks, and everything looks fine.

They can't find any reason for my high chance results.

I wanted to post to say that sometimes things can turn out OK even if the odds are against you.

At each scan, they couldn't see any abnormalities, I asked what the likehood of this is if the baby had a chromosome problem, and they said 50% of babies appear normal on scans even with a problem. I was sure if this was reassuring or not.

I think you are more likely to see some sort of abnormalities with Edwards on the ultrasound, so hopefully, today, you should have some more information.

I'm really sorry you are going through this.

I definitely think getting the amniocentesis is the best option as it will give you an answer either way.

Thinking of you, let us know how it goes OP.

sorry not clear if there’s a way to just reply to your post without quoting it all- can’t see that there is!
Anyway just to say all the very best of luck for your scan today, do let us know if and when you can how it goes. It would actually be helpful to see the calculator if you can share that - no one has called me back from Concepto despite saying they would. If nothing else this has highlighted to me that pushing these tests at 10 weeks is really unhelpful particularly without making clear that you won’t be able to get any clarity on follow up diagnostics till closer to 12 weeks (and then possibly later if we have to wait for amniocentesis at 15 weeks).

i’ll be thinking of you today and fingers and toes crossed x

@ConcernedafterNIPT You can reply by tagging someone in a post like this x if you type the @ it will bring up a list of names who’ve commented on a post and you just choose who you want to tag in.

Thank you, I will come back and update the thread later.

This is the calculator they sent me: https://ppv.geneticsupportfoundation.org

You have to select the trisomy and your age and it will give you a figure. They said the preset specificity and sensitivity were correct for their test.

I hope that you’ve since had some more positive news as you mentioned it was your first pregnancy (it’s my first too).

Unfortunately, no, we have no living children. That 1st pregnancy, was after 4yrs TTC. I then had an MC the following year then several rounds of IVF. Another MC from an IVF pregnancy- despite seeing a heart beat at 8 weeks. We TTC 12yrs in total and no medical issues ever found, other than being told it was my 'old eggs'.

My story isn't common though, and many women will have a healthy pregnancy x

@JC03745 Thank you for your kind message and I’m very sorry to hear of your struggles. I’ve tried on and off for a decade with some medicated cycles so appreciate how difficult it is.

To update on our scan, it went very well. Baby was looking very healthy, NT measurement was “very good” according to sonographer. Heartbeat strong which we go to hear, arms, legs, fingers toes etc all good and they couldn’t see any abnormalities. It’s given us some hope and we’re going to spend the next few weeks being as optimistic as possible. I have an amnio in 3 weeks and that’s the only way we’ll know for definite.

I could spend it worrying myself sick but I’m going to try very hard to believe baby is healthy and it’s a false positive unless we’re told otherwise. ❤️

@ConcernedafterNIPT Thinking of you. I hope you are doing ok.

@Whatiswrongwithmeffs86 Thank you for sharing your story and I’m so sorry you’ve had to go through such a worrying time but so happy for you that everything looks good. I really hope you get to enjoy the last half of your pregnancy now. ❤️

@DragonflyRuby Oh I’m so happy for you! That’s excellent news. Fingers and toes crossed for the amnio but that sounds incredibly positive.
I’m afraid our story is a sadder one. We were booked in for a scan on Wednesday and clinging on to hope it would be a false positive (had to wait till Wednesday as I’m only 11 weeks plus one today). Unfortunately it looks like I’m now miscarrying.
We’re just trying to come to terms with it and that maybe given our ages we were only ever meant to be blessed with our lovely toddler.
Anyway wishing you all the very best, it was a comfort to me over the last few days to be sharing our stories together.
xx

I really hope that this is a false positive for you. One of my twins was diagnosed with T18 two weeks ago after amniocentesis.

Our 12 week scan looked completely normal, apart from measuring a little behind the other twin, which I was assured was common. First trimester screening have a risk of <1:5000 and NT measurement was 1.6mm.

At the 20 week scan she was measuring far behind and had a heart defect, a fetal medicine scan found other abnormalities and so we had the amniocentesis.

I’m so sorry you are going through this. We had our 12 week scan on 19th December and on the 27th December our world fell apart when we got the call that we had a 1 in 2 chance of Edwards. We went on to have the nipt and amnio to be certain.
when we were scanned before our amnio at 16 weeks they spotted a heart defect but nothing else.
we then made the agonising decision to TFMR as the amnio came pack positive. Baby Tommy was born on Saturday. When we saw him he was just perfect but we did see some soft markers and it just cemented our decision that we did the right thing as hard as it was.
I really hope you have a positive outcome. I will keep everything crossed for you. I’m here if you have any questions x

Hey there,

I’m in exactly the same situation as you - I had a private NIPT done 2 weeks ago but the results got delayed so I ended up having my 12 week scan on Wednesday 29th January which showed really positive results, a healthy baby with no abnormalities and a normal NT (1.6mm). A few hours later I received a call from the lab to say the baby has a high risk of having T18. The results are completely contradictory and make it so hard to wrap my head around.

I now have my amniocentesis booked for the 10th Feb and the wait seems like an eternity. Have you had yours yet ? Sending you loads of love.
Lexi

i just wanted to come on and update this thread and say thank you to those who’ve shared their stories. I’ve come off Mumsnet over the last few weeks just to reduce the noise and worry whilst waiting.

I had the amnio this morning at 15+5. I won’t lie it wasn’t pleasant but it wasn’t super painful, more pressure and uncomfortable but it was over quickly and the doctor was very good. Baby was moving loads so it was tricky for her to do a detailed scan but she had a good look and couldn’t see anything unusual although she did warn us that that didn’t mean much as even at this stage scans might not show abnormalities. We heard the heartbeat which was strong and regular.

Results will be 3/4 days so now we just have to continue waiting hopefully.

I’m sorry to anyone going through this and to those who’ve experienced losses ❤️

I’m keeping everything crossed for you xx

@DragonflyRuby thank you so much for sharing your update, we have our fingers and toes crossed for you. I can’t imagine how tough this long wait must have been. And is.

For my part we’re still coming to terms with our miscarriage and grieving. I haven’t yet had the results of the genetic testing the hospital agreed to do on the ‘product’ (a term they used) that I passed to confirm any Trisomy 18 diagnosis. For anyone else reading and experiencing what I did I hope it’s helpful to share what happened with the miscarriage. I was just 11 weeks when it happened (a few days after hearing devastating NIPT results and a week before we were able to have a scan to see if a diagnosis could be given). As I was still cramping a lot and bleeding a lot after 4 days I was seen at the EGU at our local hospital. The scan showed some ‘product’ still in uterus so I had a fairly unpleasant procedure where a doctor removed what he could. After a day or two there was a noticeable lightening then in bleeding and cramping but light bleeding went on for over 3 weeks. I did a pregnancy test as instructed at the weekend and it was still positive so the hcg hormones are still reducing. I’ve also experienced a lot of night sweating (which happened after I gave birth before). The hospital told me that it can take 3-4 weeks for the bleeding to stop and the hormones to reduce to normal.
I wish I’d taken more time off work when it first happened to recover- anyone else experiencing this please do take the time to grieve and to let your body and mind start to heal. It’s physically and emotionally exhausting. Xx

Thanks everyone for being so open and honest and @DragonflyRuby I’m sending you all good thoughts whilst you wait for your results. I don’t know if this is helpful at all but I saw two consultants on the 10th who looked at the baby and both said they ‘do not think’ that it has Edward’s syndrome because it should show multiple abnormalities by now and our baby looks totally normal. As a result the consultant won’t do the amniocentesis before the 27th because she wants it to be as safe as possible - I’ll be 17 weeks by then !
I know this isn’t exactly what your doctor told you but I’ve found that allowing myself to be positive has made the time go slightly faster than when I was expecting the worst.
I’ll be crossing my fingers and toes for you - this wait is agony. x

@ConcernedafterNIPT I’m do sorry for your loss, it must be so hard to come to terms with. If you are understandably struggling do consider asking your GP to sign you off again. You don’t have to commit to being back at work because you’ve gone back. Take what time you need for you. Wishing you all the very best.

@Lexilexi123 How are you getting on? Thank you for sharing your update, it’s interesting the difference in approaches.

We were hoping for amnio results today but unfortunately I heard from the screening midwife this morning that there was some blood in my amniotic fluid so the lab couldn’t properly run the sample. I went back in today to give them a blood sample so we’re back in the limbo loop waiting.

I’m starting to feel little flutters of the baby moving which is really strange as I want to feel more and was so excited at the thought before but now it feels really hard. I also really want the limbo result but I’d rather not know than get bad news so I just have to keep telling myself that today I’m pregnant and that’s what I need to focus on. I hope you are doing ok.

Hey @DragonflyRuby sorry been a little MIA. I’m so sorry to hear you’ve had to wait even longer for your amnio results - fingers crossed you’ve had them now ? If not, how much longer did they say you’d have to wait ?
I totally relate to what you said about enjoying being pregnant and trying to block out the eventuality that it may need to end.

I had the amnio done yesterday morning and had a similar experience to what you described - very uncomfortable but not so much painful. They said to expect the results early to middle of next week. They seemed pretty positive again after doing another scan and no abnormalities are showing (I’m just over 17 weeks now). When I asked what the most likely outcome of all of this is, the doctor told me a false positive.. whilst it’s the best response we can hope for, I’m just fearful that our hope will be shattered again if the test comes back positive for T18, I just can’t stop thinking that a NIPT is more accurate than a visual analysis…
Thinking of you lots.

@Lexilexi123 I’ve been thinking about you, thanks for updating. Again, sorry you’re also going through this.

Well they said the maternal cell contamination means that they can’t run the PCR rapid test, even with my blood sample. So now we have to wait around 2 weeks. We have a detailed anomaly scan with the fetal medicine doctor on Monday in the meantime but the wait is pretty unbearable. As I mentioned the doc saw nothing of concern at the amnio but baby was moving a lot so it wasn’t in depth.

I think it’s a really positive sign they didn’t see anything on your scan, and that’s a reason why I’m keen to have the anomaly scan. From the research I’ve done abnormalities would normally show on ultrasound 90-95% of cases by 17 weeks, which I know is not as accurate as amnio but will give me a bit more of an idea if the baby is currently experiencing difficulties.

Rest up after the amnio, I hope it’s not too uncomfortable now, I had some light cramps but nothing major. I will keep everything crossed that you get a speedy result that shows you’ve got a healthy baby. Remember false positive do happen and the odds aren’t that small. Thinking of you too.

Hey @DragonflyRuby just wanted to check in and see how you’re doing ? Did you manage to get another scan? Hope you’re holding up ok.
We’re still waiting for amnio results so still no news here..!

Hey @DragonflyRuby - I’ve been thinking of you lots. We finally got our amnio test results and against all odds, the baby is totally healthy and doesn’t have T18. I wasn’t sure whether to tell you as I don’t know what your current situation is but I just thought it could hopefully bring you some hope if you’re still waiting - I really really really hope you get the same news as we did 💜