High nuchal thickness

[nathanuk91]

Hello Everyone,

My wife and I are 29 & 30. We went for the 12 week scan and the reading came back 9mm. I understand this is incredibly high. If we get the test for chromosomes and it was clear, what else could it be and is it sometimes caused by something we may not know till birth? Thanks in advance.

Hello congratulations about your pregnancy. Has your wife had he screening blood tests at the 12 week scan? If so fingers crossed 🤞 they come back low risk, if the blood tests come back high risk you would be able to have a NIPT test which will confirm if there is a high chance of any chromosome abnormalities then either have a amniocentesis between 15 to 20 weeks or CVS between 11th and 14th week of pregnancy both these will confirm if there are any chromosome abnormalities for certain things but not all, have the hospital provided any advice / support etc....?

A reading that high is usually a heart defect, a chromosomal abnormality or both.
We had a 10mm and it was t21 so we tfmr.
We now have a beautiful healthy DS9.

High NT can indicate an issue but i have heard of instances with high NT but normal baby.

@LegoPandemic you have 9 sons?

Our son is 9 years old 😂
I would recommend a chat with Antenatal results and choices charity for help.
Good luck. The days between scan and results of CVS were the worst of my life.

I had this same experience recently and the midwife showed us some statistics that said with nuchal measurements above 8mm, there’s a 15% chance you will still end up with a healthy baby.

I’m not sure what further testing you have been offered, we went on to have a detailed scan at fetal medicine and then the CVS as we didn’t want to wait for the amnio.

The testing looks at the main genetic abnormalities but if one of these is not diagnosed then yes, there is a chance that your baby might have another condition that remains undiagnosed until a later scan or until birth.

It’s an incredibly difficult thing to go through for both of you so be kind to yourselves and take all the time you need to make decisions.

We discovered our baby had a 4.7mm NT reading at the 12 week scan. CVS results came back clear for chromosomal abnormalities. Unfortunately, when we went to the fetal echo scan at 19 weeks, there was no longer a heartbeat.

We still haven't had the postmortem results back but if the CVS is clear and there are no other issues, then there's a possibility of a heart or genetic defect. Best of luck to you, I know what a scary time it is.

We just had a CVS test after being given a 1 in 4 chance at 35 years old.

Screening stats were:

NT at 12+1w 3.7mm
hCG 2.11 MoM
PAPP-A 0.34 MoM

Nasal bone was present on the scan and baby had a 166bpm heart rate which I've read is slightly high?

Now the dreaded wait for the call which is hopefully before Xmas..

@sayanythingelse so sorry for your loss ❤️

@Nightsb4xmas thinking of you during the wait, it is such a hard time. I guess it might be dependent on the hospital but we had the CVS on a Thursday and got the call with results on the Monday - two working days. Everything crossed that you get a call on Friday and that it’s good news. Make sure you look after yourself and take whatever time and care you need in the meantime. xx

My sons NT measurement was around 5mm. They tested for all the chromosome problems but he didn’t have any of these.
They then scanned again at 16 weeks and found he had a serious heart defect and problems with his kidneys. Unfortunately we made the awful decision to have a TFMR as his problems just weren’t compatible with life.
When we were going through all the testing the hospital gave us a sheet of paper that broke down all the different reasons for high NT measurements I think the 3 on there were chromosome problems, heart defects and fetal abnormalities.
I hope you are able to get some more information soon and I’m so sorry you have found yourself in this situation.
Have a look at the charity ARC for support, they have been amazing with me during and after going through all of this.

@hidetheicicles Our cvs results did come back on Friday and it was confirmed the baby has T21. Even though the medical staff did prepare us by saying the combination of our screening and bloods pointed something being wrong, we were absolutely devastated to hear this news.

We've now begun the medical procedure for TFMR. We did enquire about the surgical option but was given a 2 week timeframe for this process to be completed. This would have meant the baby would be 16 weeks and didn't want to wait this long.

@Nightsb4xmas So sorry to hear that. I was in a similar position last month - we could have pushed for surgical but we just didn’t want to wait that long.

Hopefully you have had lots of support and advice from your medical team but if you want to ask any questions or just talk about it with someone who has some idea of what you’re going through please do just send me a message. ❤️

Hi again,

We went back to the hospital and my wife got the cvs done. Our original nt reading was 9.1 and this time at 15 weeks was 9. I read somewhere that a drop in the reading can be encouraging and a continuously high reading is more likely to show a problem exists, not sure if this is true. I was wondering if one decides for a tfmr if a l&d is the only way after 16 weeks or if a surgical option is possible. Thank you all for your time.

Hi @lifa thanks for your reply. She had the cvs today, we will await that result and see. However we are concerned even if it is clear due to the high nf measurement. The staff at the hospital are nice but we don't seem to be getting many straight answers from them unfortunately.

@LegoPandemic

A reading that high is usually a heart defect, a chromosomal abnormality or both. We had a 10mm and it was t21 so we tfmr. We now have a beautiful healthy DS9.

Hi, I am sorry to hear you had a issue and had to tfmr but so glad you went on to have a healthy boy. It really is a difficult decision one you never realise how difficult until one is in that position themselves.

@BabyOnBoard90

High NT can indicate an issue but i have heard of instances with high NT but normal baby.

@LegoPandemic you have 9 sons?

Hi, yes I see stories like that, but the decision is sometimes made harder.

@hidetheicicles

I had this same experience recently and the midwife showed us some statistics that said with nuchal measurements above 8mm, there’s a 15% chance you will still end up with a healthy baby.

I’m not sure what further testing you have been offered, we went on to have a detailed scan at fetal medicine and then the CVS as we didn’t want to wait for the amnio.

The testing looks at the main genetic abnormalities but if one of these is not diagnosed then yes, there is a chance that your baby might have another condition that remains undiagnosed until a later scan or until birth.

It’s an incredibly difficult thing to go through for both of you so be kind to yourselves and take all the time you need to make decisions.

Hi, thank you for your message. We were not shown a chart but my wife had the cvs today and we await that result. The nf measurement was still 9 at 15 weeks so not sure if that raises concerns as I read in another post. We will see what the cvs says and take it from there.

Mine went down about 4mm between scans but when sometimes when they are measuring something that tiny the measurements can vary by day.
Did they find anything else on the scan yesterday? With mine I had the high NT measurement at 12 weeks but everything else looked fine but then when I was scanned at 16 weeks they could see loads more problems so if they didn’t see any other abnormalities then it is encouraging. I hope you don’t have to wait long for results.

Also to answer your questions about termination methods, most NHS hospitals won’t do surgical after 13 weeks. You can find an abortion clinic (I know that sounds awful) who will do surgical if you really want it. Medical sounds terrifying but I’m so pleased we did it that way. We got to meet our son after and make memories. Don’t want to go into detail about what surgical entails but to put it lightly you won’t be able to meet then after if you went down this route. Also medical is better if you need to have a PM on the baby after. Your doctor should be able to explain everything or speak to the charity ARC.

I'm now in a very similar situation- I'm 16 wks pregnant with twins, its my first pregnancy. I was told at my 12 week scan that something doesn't look right with twin 2 and there was extra fluid at neck. Consultant said it might be patau, edwards or down syndrome. They recommend a CVS test and so we went for that before Christmas. Literally just got final results on Monday this week after a long wait over Christmas week and all results are clear which we were delighted about.

They brought me in for a scan yesterday, I'm now 16.5 weeks pregnant and unfortunately we were told the fluid has increased - its around the neck/head and lungs. They don't know why or what is going on. Consultant said it could be many different things but is trying to prepare me for the worst. He said twin 2 is really struggling, there may not be a heartbeat next time I go in for my scan. I'm just really overwhelmed and confused by all of this. The news is all so negative but I have no actual diagnosis. Twin 1 is doing great and I'm really thankful for this. There is just so much uncertainty with twin 2. I asked was there a chance fluid will reduce and he said unlikely.

Has anyone been through anything similar where it has turned out well? Is there any hope? Consultants seem to be cautious in giving any hope. I need to stay strong and hopeful for twin 2 but I don't know what is happening. Any advice would be much appreciated.

Hi all how did you all get on if you don't mind me asking

@Georgii22 I really hope the fluid ended up reducing. How are you?

I know this is an old thread but just want to share my experience. In my second pregnancy , the Michal food was over 5mm and I was told the baby wouldn’t survive birth and to have a termination. The nurses refused to do my bloods because, as they kept repeating, “there was no point”. They saw me as a doomed pregnancy. I insisted (and I never kick up a fuss) and they finally relented. They told me all the while “don’t worry, once this is over you can try again”. They wanted to book me a termination there and then.

A few days later I had a phone call from the lead nurse. She said that, amazingly, my risk of Down’s syndrome was 1 in 19 but that baby likely didn’t have Edwards or Pateus (no markers in the bloods). She was still pushing for a termination. I opted then for an amniocentesis as I just wanted a miracle.

At the amnio at 17 weeks, the consultant took one look and said “baby is fine, your previous babies probably had a fat neck at the same stage! There is nothing wrong with this baby”. She did the amnio which confirmed it, and the heart scan the following week was clear also. My beautiful girl was born and has had zero issues from this.

Please, anyone in the same boat, please try and remember that not all high nuchal fold readings mean it’s bad news. It’s a horrible position to find yourself in, but there is always hope.

*Nuchal Fold not Michal food - damn predictive text!

Thank you @Wibbli! I am now 22 weeks and have had a clear NIPT, microarray, and 20 week cardio and anomaly scans but still feel so worried. I know I should relax now but am just under a cloud, which is totally unlike me. Congratulations on your beautiful baby!