High NT, high chance in screening, low NIPT

[Spears979]

Hi everyone,

Just looking for some advice and the experience of others.

This is my second pregnancy after a miscarriage earlier this year. This pregnancy has been full of worry with having a haematoma that has meant most of the pregnancy has been spent on and off bleeding.

At the 12 week scan last week we were full of absolute pure joy watching our little baby wriggling and felt relieved when seeing the heartbeat. However, at the end the sonographer explained the NT of the baby was very high: 5.8mm.

We were taken to what I've named 'the sad room' and spoken through all the possibilities. We decided to go straight for CVS to know exactly however they weren't able to do it due to my bleeding.
So we went for the NIPT test in the meantime.

Those NIPT results came back today as low for everything.

I know these are just screening results and not the same as a diagnostic test such as CVS or Amnio. The specialist has recommended waiting for amnio so that we can be as certain as we can with the results and hopefully tick off a few things that could be wrong and we have booked in for that as soon as I'm 16 weeks (just under 3 weeks to go!!!)

I already know in my head we have a long journey and lots more tests and hurdles to get over before feeling 'safe'.

I just wanted to hear of others experiences. Has anyone had that high of an NT, had low NIPT and everything has worked out ok and baby been healthy?

Thank you in advance x

Hello, just wanted to say I felt the same. We’d had two private scans before the NHS one, and when we went in, we enjoyed watching the baby wriggle around, we were laughing at it. Then the sonographer told us the NT was high. I can’t actually even remember how she worded it. I do remember her saying ‘I’m sorry this isn’t the news you were hoping for’.

Our NT was 8mm unfortunately. We had to wait another week to do the NIPT due to the days it can be done in my area and a bank hol, so it was almost 2 weeks before we had the results that it was high risk for Edwards. We didn’t actually get a CVS as baby was clearly very unwell so unfortunately it ended with a tfmr.

I truly hope you get a positive outcome, it’s good that you got a clear NIPT and hope the next scans go ok

|Hi there
I was just wondering how you are getting on?

Hey, sorry I can't share any experience yet but I am in a similar position.
NT measured 7.6 at the 12+2 scan, bloods came back 1 in 2 for all three, went for nipt yesterday and am booked in for CVS Tuesday, I know my results probably won't be back before the CVS and I've been told I can postpone it for a week which is reassuring because I keep changing my mind if I want to go ahead with invasive checks if the nipt comes back low, however I think the chance of it coming back low is very slim and I don't want to prolong any suffering if the baby isn't doing well. I'm just so confused at the moment. I hope these next few weeks fly by for us both.

Thank you @MrsScotland for your reply!
I completely relate to those feelings during the 12 week scan, that's exactly how I felt too.

I'm so sorry to hear that your journey ended that way but I'm wishing you all the best for the future and sending lots of love!

We're currently in limbo land at the moment! The amnio is booked for the 4th December so another week and a bit. Feels like a lifetime! X

@LucyBaby2 completely understand your feelings at the moment! I had my NIPT test on a Friday and I had the results on the Wednesday. We had planned for cvs but couldn't due to my bleeding which is why we we are waiting for the amnio instead.
What I thought was that me wanting to know what's going on really outweighed the risk for me of having the cvs etc! But I know it's such a personal thing and so hard when there is so many emotions involved.

I really hope the weeks go quick for you too and we both can end up with positive outcomes! All we can do is hope for the best! Xx

Making the decision and waiting to go for a CVS then not being able to have it must have been so disappointing! I have a feeling my placenta will be in the way, my first baby had a posterior placenta and something just tells me to be ready for the longer wait for amnio, I do feel the same though - the risks outweigh the unknown, I just have moment where I think it's all a mistake and if the nipt is clear then baby will be fine but the daunting 7.6mm measurement brings me back to reality.
Yes, hope for the best but prepare for the worst. ❤️

@LucyBaby2 completely get you! It's the worry isn't it of making a choice that may lead to a negative outcome and feeling responsible for that? It's so hard having a more complicated pregnancy as you second guess every decision so much more!
That was my worry with the CVS too that I'd get myself ready for it and they wouldn't do it anyway due to the placenta positioning! Just hoping my bleeding stops and they can do the amino on the 4th! Fingers crossed x

Yes, second guessing and changing your mind constantly, it's so difficult. Also not having any friends or family to talk to about it because you don't want to worry them or have to share potentially sad news further along but I'm so grateful that I found your post because your NT measurement is much nearer to ours than so many threads I've read and as awful it is that you're going through it too it does give me some comfort in a weird way.
Have they given any reasons as to why you're bleeding?

@LucyBaby2 I agree, it's so unfair as it should be a time of celebrating and being excited and you just feel like you can't until you know what's happening. It's so nice to be able to find people going through a similar thing. Like you say, I've seen so many posts but the NT has been high 3's which is so different.
Originally they could see it was a haematoma/hemorrhage but now they can't see any reason!? Just said sometimes it's one of those things! Its hard as it feel so unnatural and just another worry!
How are you feeling this week with everything?

Yes so true, I don't even feel pregnant now I've disassociated so much. I looked at the scan pictures today for the first time since recieving the news and it put me on a bit of a wobble - I'm definitely not feeling myself and it's so unfair for my little boy. I am so ready for Tuesday, I just need to know something new.
And it feels like such a cop out when they say 'just one of those things' I get that they don't know everything and can't explain everything but it's really not helpful at all when they offer you absolutely nothing. I sincerely feel for you having to wait even longer 😞

Hi! Thought I'd pop in to share my experience. My daughter had a 6.8mm NT at the 12 week scan and also what they thought were hydrops (which is fatal). Screening came back as 1:5 for all 3 trisomies. We had a CVS and multiple scans and all came back clear. She's now 2 and very healthy.

I remember the feelings you both describe so vividly. I remember sobbing to my husband in the shower and saying I felt that my body wasn't my own any more. The waiting was horrendous. I was obsessed with reading EVERYTHING that I could find, literally every medical journal that looked at a high NT (which was terrible as the results were awful). Whereas my husband just wanted to pretend it wasn't happening. I'm beyond lucky that my daughter was healthy but the concept of a "normal" pregnancy was shattered by the experience.

If I can offer any advice it's to stay as busy as you can and be kind to yourself. Do whatever you need to get through the day.

Sending you both lots of good thoughts. It truly is a horrendous experience and only understandable for those who've been through it

@LucyBaby2
I feel the exact same. After my scan I put the pictures into my glove box in the car for ages as I couldn't look at them. Then felt so awful I got them out but sobbed looking at them. It's so hard isn't it as this baby is so so so wanted but it's hard when you're so worried it may be a negative outcome.
I completely agree, I get they don't know everything but at the moment I'm so in limbo with it all I have no idea what to expect etc.
I hope time goes really fast for you today! X

@cheeseplease3 thank you so much for your reply! It's so nice to hear of a positive story (although I know not everyone's ends up this way)

You've completely summed up how everything feels. I've read so much, trying to prepare for every eventuality and my fiance just wants to pretend things are good and keeps saying it'll all be ok. It's much harder for me to have such a positive outlook when I know there are so many hurdles to overcome first!

I am so so pleased for you that things turned out ok and you have a beautiful daughter. Keeping everything crossed for @LucyBaby2 and myself!

I went back to work last week after some time off and that definitely helped me by keeping busy!

Thank you again x

@Spears979 sadly couldn't go ahead with the CVS as my womb is slightly tilted and the sonographerr wasn't comfortable doing it because it would be very tricky for her, plus she commented on hydrops around baby 😞 NIPT came back later this afternoon and it's high risk for Edwards, they said I can go ahead with amnio before they encouraged that we book in for TFMR 😢
I pray and hope your results are much, much better ❤️

@LucyBaby2 I've been thinking of you today! I am so so sorry to hear they couldn't do the CVS and that your NIPT results came back high for edwards. I can't begin to imagine how you must be feeling. Are you going to wait for the amnio do you think?
Sending you all the love in the world right now! X

I was certain yesterday that I wanted to wait for the amniocentesis and I think I still will but I know that I'm just delaying the process because I'm not ready to accept it's the end for us. I haven't even seen a single consultant yet and the decision to end the pregnancy without a diagnosis just leaves me with so many loose ends. So sorry to be putting this all on here but I have no one who understands what it's like.
Your low nipt results give hope for sure though so I just pray the next 5 days to go by so quickly for you. Thank you so much for talking to me, I really appreciate it.

@LucyBaby2
No please don't worry at all, it's the most awful experience and it's so important you have people to talk to so I'm here!
I can't believe you still haven't seen a consultant yet! I completely understand how
You might be feeling about delaying the inevitable but you'll feel better getting a full
Diagnosis to be certain what you're up against and to make any decisions.
Thank you so much. I've come home from work today full of cold so I'm hoping that goes before Monday! Xx

Hi Lucy

I just wanted to come back on and remind you I was in your situation too, the 8mm NT, fluid on the chest and then a high risk NIPT for Edwards.

My screening midwife gently explained to me that the Fetal Medicine may well agree a TFMR without any further testing if they thought the prognosis was poor - and she was right. They offered the CVS at that appt (which I had to wait 2 weeks for) but I knew it wasn't going to change the outcome and I couldn't prolong the agony any longer.

I am now 8 weeks on and I had the post mortem results back yesterday. They came back that the baby definitely had Edwards Syndrome and some of its organs were outside its stomach too.

I was never in any doubt that a tfmr was the right option for us, but getting a very conclusive PM confirmed in my mind that baby was very very unwell.

If you have any questions just please let me know x

I'm just here to sympathise. My combined test came back as a 1:2 for Edwards and Pataus:
I’m 40, my NT measurement 1.7mm and rest of the 12 week scan was fine, but my hormone levels are so off:
papp a 0.23MOM
hcg 0.1 MOM
I opted for the NIPT which came back on Tuesday as a confirmed higher risk for Edwards. The dating scan put me a week behind my dates so I have to wait until 11th dec for the amnio. The extra week wait seems so long. The only threads I've found where people have similarly low hormone levels all ended badly so I'm not feeling positive.
@LucyBaby2 I would also wait for the amnio in your position. Although as I said I keep thinking it's not going to work out for us, I keep going back to the high rate of false positives for Edwards with the NIPT test and just praying it's us that had the false positive, even though the hormone levels seem pretty conclusive in themselves. Some scores I've found for the reliablity of the NIPT test for Edwards in high risk populations is still only 84%. Still not great odds but I can't help cling to low odds when the alternative is so heartbreaking.

@Spears979 how are you feeling? Having a cold on top of all the worry must be so annoying!
I still haven't been contacted or booked in for a consultancy appointment, I called today to see what's going on but they just said they'll chase it up and to call again tomorrow if I haven't heard anything by the end of today. Not long left for your appointment though, I hope you're managing to get some rest and recover before Monday!
@MrsScotlandthank you for your reply, I'm sad to hear you went through it too, it shows real courage to make the decision you did and I'm glad you got the confirmation eventually. I'm hoping to get the amnio as soon as I am 15 weeks (1 week from tomorrow) because I'm really not sure which procedure I'd be more comfortable with and they said if I had a surgical method then they couldn't perform a post mortem and I would never have a diagnosis.
@HFH40 it's awful isn't it, I don't know much about hormone levels since mine haven't been published and I haven't received them on any paper notes. However, I did see from my booking appointments bloods they said currents risks : low Papp a <0.4.
I think I would feel reassured that your NT measurement was well within the normal range and also take comfort that they didn't notice anything else during the scan. Stay strong and if clinging to the positives gets you through to the next appointment then I say carry on. I always hoped for the best but prepared for the worst and I feel strong right now about it all.
Did they not offer you a CVS?

@LucyBaby2 we could have had a CVS but I opted just to wait for the amnio for few reasons; I didnt want to prepare myself for the CVS and then them not be able to do it, I didn't want to risk the result not being 100% accurate (having read about placenta mosaicism), and also just the increased risk of miscarriage incase - against the odds - the baby is healthy.
I'm supposed to be working today (I'm self employed) but I just can't focus and find myself googling everything and reading threads on here about the worst case scenarios just to be prepared. This whole thing just is taking over my thoughts, are you the same?
I'm so grateful to everyone who has shared though, like @MrsScotland - it's just nice to feel alone in it all.
I feel very grateful to have two beautiful children already but I had three misscarriages between my first and second, and this is just bring back a lot of those memories...

@HFH40 totally understand your reasoning. I only opted for it because it was the next quickest test for us and at that point I was feeling desperate. I've finally received a date for my amnio though which is the 14th so another long wait but I'm much calmer now. I have passed the stage of scouring medical journals and researching as it was consuming me day and night and I came to the decision that I will deal with the facts of my circumstances and not focus too much on anything else. I can't change anything and I feel prepared, finally, for whatever outcome. My heart breaks for you that you have previous experience of loss and it must be so hard to be positive or even focused on anything else during this wait. I send you good thoughts and love.

@LucyBaby2 how are you? I've been thinking of you lots!

Has the amniocentesis yesterday! Baby looked ok on the scan from what they could see but now it's a waiting game for these results. Feel so scared but trying to just hope for the best!
Sending loads of love xxxx

@Spears979 how was the amino itself? Do you feel okay afterwards? Keeping my fingers crossed for you xx

@HFH40 it was definitely uncomfortable but not awful. Thankfully it is over really quickly so I just kept taking really deep breaths and hoping it would be over. Yesterday I had some period type pains and today just a tiny bit sore but not too bad at all. I've just been resting though since and taking it really easy!