High NT that turned out ok?

[NGF89]

I am looking for hope of anyone who had an Nuchal translucency measurement of 6.6 and it turned out to be ok?
due to the high measurement, our screening has of course come back as very high risk 1:2 for Down syndrome. I am booked in for a cvs but the wait is killing me and I’m just looking for positive stories. I don’t know if I’ll find any.

Hi @NGF89 - we had raised NT but not as high as yours. I spent literally hours pouring over the internet and found lots of stories on Reddit, one here which seems similar to your situation that turned out fine, and another commenter with the same.

https://www.reddit.com/r/NIPT/comments/1bjkh1p/worried_for_baby_girl_with_61mm_nt_nipt_negative/

Reddit has a whole section called NIPT and lots of people have shared stories there.

I feel for you - the waiting is absolutely torture and all you can do is take it one day at a time. Thinking of you x

Could you have the NIPT whilst you wait? I have heard of lots of people having the NHS test, come back as high risk and then having a much more sensitive test and being ok it’s a few hundred pounds so guess it depends on your resources.

@loulamay thanks so much. I will have a read of this. I think just a few positive stories of anything over a 6 that was ok will help me. Baby was so so active as well so I do wonder if maybe the measurement was slightly wrong. I still think it will be high but just going under 6 would give us more chance of a positive outcome.

@Whatanidiot123 I did think about a nipt but I feel like the screening nurse was steeeing us towards a cvs. I am wondering if I should have but the cvs is tomorrow so I am hoping I have answers really soon.

Hi @NGF89
I didn't want to read and run, I also had a higher NT result albeit not as high as 6.6 but wanted to offer support.

The high result meant we could access an NHS funded NIPT test, I had this whilst waiting for an amniocentesis. We had already missed the cut off ( 14 weeks I believe? ) for the CVS proceedure.

The NIPT came back high risk for Down Syndrome, Low risk for Edward's & Patau. The amnio revealed no genetic abnormalities.

Those few weeks waiting were LONG and trust me every thought went through my mind, I would spend hours (!) each evening scouring the internet for research, forums and any further reading on the matter.

Please try and be kind to yourself, don't worry now what you would do if X or Y. Wait until you have your results and go from there, keep busy, which I know is a lot easier said than done.

Take care

I totally understand. How many weeks were you when the scan was done? Any other factors like it being an IVF baby or you're on high doses of progesterone?

We went for the CVS as well - I had to have answers!

@loulamay Yes it’s an ivf baby and I have been on high does of progesterone for over 4 months. Pessaries and injections. I stopped a week before the scan which was at 12 weeks 6 days!

Does the progesterone make a difference?

@shrinkingbee thank you so much for your kind words! It’s honestly torture isn’t it. The wait is just horrendous!
I’ve been through every scenario in my mind a million times but you are right, I need to wait for the results and go from there!

I did a lot of reading (I know this is not for everyone, and totally understand other approaches of distraction) and found several studies of interest:

https://pubmed.ncbi.nlm.nih.gov/25305408/ - linking high doses of progesterone to elevated NT levels.

https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.1846#:~:text=The%20median%20NT%20MoM%20of,in%20the%20thickness%20of%20NT.
Postulation that ART pregnancies show delays in fetal development which can account for higher NT levels (for example the lymphatic system may not be as developed).

In the kindest possible way, I don't want to get your hopes up as it were because I am not a scientist, but I did read them with interest when we were going through this.

Unfortunately, only the CVS results will really tell you what's going on. We got our trisomy results back in 2 days and the rest of the micro-array in about 5 days. I would ask what you can expect from the timing of the results when you go in just to manage your expectations.

You have my empathy and sympathy. I couldn't think straight for weeks while we went through it.

Are you having a full
Micro array? The high NT can mean a myriad of genetic conditions or issues not just Downs .

Are you seeing a genetic doctor ?

In my experience it always means something ... do you have any other soft markers ?

I'm sorry, it's awful. The wait and the worry is so hard.

I'm not sure if it's any comfort, but try to remember that whatever the outcome is, it was decided weeks and weeks ago. There's nothing you can do or read now that will change it.

Although I do completely understand the urge to find and read stories with positive outcomes. I absolutely do.

Look after yourself, and hopefully you won't have to wait too long for results x

@kaos2 my hcg is higher but my pap a or whatever it’s called is within the normal range.

everything else on the scan seemed fine.

they said when I have the cvs, it will give me an answer within 3 days of the three main trisomies but that I will then get another result within 2 weeks if it’s something else?

That's a good sign if your visual scan looked ok..

So just check they are doing a full array .

This all happened to me 14 years ago and things have progressed since then .

I had an NT of 6.5mm, but it was Patau syndrome (trisomy 13). You said your scan was good which is great and very positive. Mine, at 12weeks, had obvious issues which even I could see when pointed out. Happy to answer any questions you have OP. Its a difficult time, but remember that this isn't your fault and you aren't alone x

Depending on your CVS results, ACR can be very helpful
www.arc-uk.org/

A little update!
i went for the cvs today which wasn’t pleasant, but not horrendous!
at my 12 week scan the sonographer didn’t mention anything about it but today the consultant just casually said ‘I can’t see a visible nasal bone’ which of course we know what that means coupled with a high NT, but why did the sonographer not mention that to me in the 12 week scan? I feel like I wouldn’t have been holding out hope for the last week as having two soft markers for DS is prettt conclusive.
The consultant did measure the NT at 4.4 though rather than what the sonographer measured at 6.6 last week.
the next few days are going to be very very long!!!

but why did the sonographer not mention that to me in the 12 week scan?

They aren't allowed to! They are doing the scan, not diagnosing what is on the scan! They also wouldn't have the blood results to compare either when doing the scan. I'm not saying they aren't highly skilled and would obviously see that, but they are taking the photos. Its not their job to say what is in the scan/photo.

As I said upthread, my scan showed very obvious issues due to patau syndrome. When I had the NIPT blood test, I also has a scan. The sonographer mentioned absolutely nothing, but in hindsight, was obviously taking more pics. She even commented about it taking a bit longer than usual. It was my 1st pregnancy, so I didn't know how long was normal?

I'm sorry you are going through this OP.

Hi OP,

I wanted to share my recent experience with you.

I went for my 12-week scan in December, and the baby had an NT measurement of 4.3. They immediately gave me a chance of 1 in 5 for a chromosome problem.

I opted for the CVS right away, I went 2 days later, and unfortunately, they couldn't do it due to the position of the placenta. They told me I would have to come back when I was 15 weeks for an amniocentesis instead.

I then got a call on Christmas Eve, saying my blood results were bad and the odds were now 1 in 2 for Downs syndrome. The Christmas period was the hardest time for us, having to wait and expecting bad news in the new year.

I then had the amino, and a week later, I got a call to say the baby didn't have any of the 3 trisomies. It was a huge relief, and a few days later, I got the full microarray array back, and everything was fine.

They also mentioned that sometimes a high NT can be a sign of a heart problem, so I went for a fetal echo at 18 weeks, and again, everything looked fine.

All my scans during this time all looked normal with no notice problems.

I've since had my 20-week anomaly scan, and they couldn't see any problems.

I'm now 21 weeks, and the whole pregnancy has been very worrying.

I just wanted to post to say I have been where you are now, and I know how terrifying it can feel and how utterly helpless you feel whilst waiting for the results. It's been a hell of a journey for us.

A 1 in 2 chance doesn't always have a negative outcome, and although the odds feel like they are against you, it might just be OK. I really hope this helps you feel less alone.

I still don't understand why my baby had a high NT. My hcg was 6 times the normal range, and fingers crossed, everything is looking good now.

Wishing you all the best and hope to see a positive update from you soon xx

@Whatiswrongwithmeffs86 That is lovely news and lovely to see things are going so well x

My daughter had a high NT and a 1 in 2 down risk. She had nipt which was negative but didn't want an amnio. The fluid stayed high on babies neck throughout, the doctors encouraged abortion constantly repeatedly. Baby had heart scans no anomalies.

She now has a completely healthy 6 month old baby girl 🙂

I have measured 6.1 on my scan for NT a few days ago. They still did the screening bloods anyway and if this comes back high which they suspect it will I will be having NIPT, but I’ve also been referred for the CVS which they will try to do on Tuesday, but because I have a retroverted uterus this can make it quite hard so not holding out too much hope. Not to try and hijack the thread but just to say I’m right here with you going through this. I’ve had recurrent miscarriage and no living children and this is the furthest I’ve got so far so we are really upset by the whole situation x

@lili8448 @Whatiswrongwithmeffs86 these are both really positive stories and I really do hope mine turns out as positive! I am waiting for the call with the results from my cvs and the wait is just so so painful.

@Notsure31 please keep me posted on your journey. I have everything crossed for you!!!

The waiting is so difficult, but hopefully, you will have an answer in the next few days. If it isn't a positive outcome, at least you have all the information that allows you to make the best choice on how to proceed for you and your family. We hadn't decided on what we would do if the baby had DS, but it was not knowing that was the hardest thing. Thinking of you xx

@NGF89 how are things going for you? They couldn’t do my CVS in the end due to where my placenta is so I had the NIPT instead and booked in for amnio at 15 weeks. If my NIPT comes back high I don’t know whether to proceed with amnio though due to the scan findings as well it would be pretty conclusive.

hi @Notsure31 ,
its been the most terrible few weeks!
we had confirmation from the cvs that baby has DS so we have made the decision to TFMR. We found out on Monday and they can’t fit me in for a termination until next Friday so the wait is complete torture! I can feel baby kicking around, knowing what’s happening next week and it’s just so awful!
when do you get the results of your NIPT?

@NGF89 I’m so sorry 💐we have also decided we will TFMR if the baby has any chromosome issues. Our dilemma is if the NIPT comes back high do we do it based on that and scan findings or wait for amniocentesis which isn’t for another 2.5 weeks then a wait for results. NIPT results should be back by the end of next week.

@NGF89 I'm so so sorry that you've gone through this and had to make such a heartbreaking decision. Sending lots of love x