High Nuchal Translucency

[KindKat]

Hi all

I had my 12 weeks scan tomorrow and my NT measured at 3.6mm. As the “normal range” is 3.4mm and below, I have now been referred to a specialist Fetal Medicine Unit for further tests and a CVS.

I am so unbelievably upset. I was told due to the severity of my PCOS and endometriosis I would likely never get pregnant, let alone naturally, then me and my fiancé fell within two months of trying - it felt like a miracle. Now we are faced with the possibility that our little rainbow may have a lethal abnormality.

I’d be so grateful for any advice or experiences. I’m new to mumsnet but have read enough threads to see how wonderful a community it is. Please help if you’re able.

Thanks in advance. K x

Ugh obviously I meant I had it yesterday, sorry :(

I am so sorry that you are going through this. It is horrible.

Have they taken blood samples to check your levels as yet? Did they say there were any other indicators that something might be wrong? The NT measurement alone isn't the only indicator they look at to determine risk for genetic disorders. You aren't far off the normal range so there is hope there. There are lots of stories of ladies on the Antenatal Tests board who have had higher NT measurements and everything was still OK, so please try not to worry too much yet (often easier said that done though).

I came back as high risk after my 12 week scan (1 in 22 for DS and 1 in 9 for Edwards and Patau's syndromes), where the NT was 3.2 mm. I had an amniocentesis in the end (the placenta was in the wrong place to make a CVS a viable option for me) and everything came back negative. The wait was awful though.

I would recommend having a look at the Arc website (www.arc-uk.org/). It has lots of practical information on there, plus they offer a help line of you would like to talk to someone.

@Mummy2O

I am so sorry that you are going through this. It is horrible.

Have they taken blood samples to check your levels as yet? Did they say there were any other indicators that something might be wrong? The NT measurement alone isn't the only indicator they look at to determine risk for genetic disorders. You aren't far off the normal range so there is hope there. There are lots of stories of ladies on the Antenatal Tests board who have had higher NT measurements and everything was still OK, so please try not to worry too much yet (often easier said that done though).

I came back as high risk after my 12 week scan (1 in 22 for DS and 1 in 9 for Edwards and Patau's syndromes), where the NT was 3.2 mm. I had an amniocentesis in the end (the placenta was in the wrong place to make a CVS a viable option for me) and everything came back negative. The wait was awful though.

I would recommend having a look at the Arc website (www.arc-uk.org/). It has lots of practical information on there, plus they offer a help line of you would like to talk to someone.

Thank you so much for your reply.

They took blood right after the scan but said "given the NT level, because of the algorithm it'll almost certainly be screening positive, so don't get your hopes up". Still waiting for those results, but have the CVS tomorrow at 2:30pm.

The other thing was that yesterday I would have sworn I was 11 weeks, but they put me at 11+2 - all previous scans (private) and my ovulation tracking put me at 11w yesterday. No idea if that makes the result better or worse to be honest.

I'm praying tomorrow when they repeat the scan they disagree with the measurements but I'm not holding my breath. We have decided to do the CVS to know for sure, and until then I'm trying to stay positive but it's so, so hard.

I'm so very glad all worked out with your pregnancy, though.

They will do a scan before (and during) the CVS, but in my experience they didn't take the measurements again. You could ask for this though.

I am not sure this is useful, but the bit before will be very form driven. They will go through what will happen, the risks and the timescales of what to expect next. They gave me a big brochure with lots of info in to take away. I had to sign my consent in the form.

I believe the procedure is really similar to an amniocentesis. In terms of pain it wasn't as bad as I expected. I could feel pulling and a sharp scratch, but it was bearable.

During the procedure, you can watch what they are doing or you can lie back and close your eyes, focusing on your breathing. There are no bonus points for being brave so do whatever works for you.

I will be thinking of you tomorrow.

@Mummy2O

They will do a scan before (and during) the CVS, but in my experience they didn't take the measurements again. You could ask for this though.

I am not sure this is useful, but the bit before will be very form driven. They will go through what will happen, the risks and the timescales of what to expect next. They gave me a big brochure with lots of info in to take away. I had to sign my consent in the form.

I believe the procedure is really similar to an amniocentesis. In terms of pain it wasn't as bad as I expected. I could feel pulling and a sharp scratch, but it was bearable.

During the procedure, you can watch what they are doing or you can lie back and close your eyes, focusing on your breathing. There are no bonus points for being brave so do whatever works for you.

I will be thinking of you tomorrow.

Thank you so much. They did say they'll rescan me before the CVS so I'm hoping they do. Thanks again for your time and for sharing - never been so worried in my life and knowing I'm not alone helps some xx

I know how you are feeling and how scary it is.

Take each day as it comes - it is fine to feel scared one minute, brave the next and panicked moments later. It will be a bit of a roller-coaster I'm afraid.

Try to spend the next few days focusing on you and watching crap telly to take your mind off it when you need to. You can always post here if you want to. Sometimes writing it down can help you process.

Op
*
They took blood right after the scan but said "given the NT level, because of the algorithm it'll almost certainly be screening positive, so don't get your hopes up". Still waiting for those results, but have the CVS tomorrow at 2:30pm*

This information is not true! Was it a sonographer that told you this? A sonographer shouldn’t be providing this information, as it’s incredibly worrying. Personally I’d wait until you get your blood test results before booking any sort of invasive procedure.
The NT scan is so inaccurate and it’s based off a sonographer manually trying to hover a mouse over an image of a moving baby. Plus the normal range is 3.5mm and below not 3.4 like they told you. Based on that info, you are only .1mm above.

@Sleeplessem

Op * They took blood right after the scan but said "given the NT level, because of the algorithm it'll almost certainly be screening positive, so don't get your hopes up". Still waiting for those results, but have the CVS tomorrow at 2:30pm*

This information is not true! Was it a sonographer that told you this? A sonographer shouldn’t be providing this information, as it’s incredibly worrying. Personally I’d wait until you get your blood test results before booking any sort of invasive procedure.
The NT scan is so inaccurate and it’s based off a sonographer manually trying to hover a mouse over an image of a moving baby. Plus the normal range is 3.5mm and below not 3.4 like they told you. Based on that info, you are only .1mm above.

We just got back - bloods weren't back by the time I had the rescan. Their measurement was 3.2mm and structurally baby looked good. We were told to decide if we wanted the CVS and as we were about to, bloods came in.... and I was screening negative!!!!!! So you were absolutely right!!!! Thank GOD we didn't do the CVS. X

@KindKat oh I’m so pleased for you! What a relief! I’m sorry for all the stress that caused you. If you’ve got it in you (I didn’t I was emotionally exhausted after all the worrying) I’d put in a compliant about the sonographer and those who told you it was dire news as they really spoke out of turn and gave you very incorrect information xx

Definitely complain. There was no need for you to go through this.

I am so pleased that all looks OK.

@Mummy2O

Definitely complain. There was no need for you to go through this.

I am so pleased that all looks OK.

@Mummy2O @Sleeplessem just wanted to thank you both so so much for your comments. I've never been so stressed in my life and you both really helped. So relieved. We are going to do the NIPT for full peace of mind, but I am so much happier. Thanks again xxxx

@KindKat no problem! I know how stressful it is, please don’t let it taint the rest of your pregnancy though!

I had NIPT too, so glad I did. After all you’ve been through, it will give you 100% peace of mind. Xx

My NT was 3.2 and all absolutely fine x

had 12 week scan (5th July…measured at 13wk3dayss)they noticed that the fluid on the back of the neck of baby was slightly high 3.7 so they had to combine my test results with my blood results to see any chance of abnormalities?Long wait….phone call this morning…test came back and I have 1 in 51 chance of baby having Down’s syndrome
Doing tests on Wednesday to take sample of placenta… as my placenta is in a difficult position the way it is -it may be harder to take a sample (99% chance they can tell me how baby is) . I f they can’t do that they will have to wait till 16 weeks to take amniocentesis which takes fluid from around the baby….

Seeing lots of positive stories, can anyone else comment? Trying to keep positive is the worst…..sick with worry

@Emmalizzie831

had 12 week scan (5th July…measured at 13wk3dayss)they noticed that the fluid on the back of the neck of baby was slightly high 3.7 so they had to combine my test results with my blood results to see any chance of abnormalities?Long wait….phone call this morning…test came back and I have 1 in 51 chance of baby having Down’s syndrome Doing tests on Wednesday to take sample of placenta… as my placenta is in a difficult position the way it is -it may be harder to take a sample (99% chance they can tell me how baby is) . I f they can’t do that they will have to wait till 16 weeks to take amniocentesis which takes fluid from around the baby….

Seeing lots of positive stories, can anyone else comment? Trying to keep positive is the worst…..sick with worry

Hey lovely

3.7mm is marginally above "normal". Have you requested an NIPT before the amnio???? If not PLEASE do this - the NHS now offer it if you're "screening positive" which sounds like from your numbers you may be? If not, they can be done privately (pretty expensive at £500 but for me, worth every penny - we went to The Birth Company on Harley Street and the consultant was AMAZING).

It's easy to say but please try not to panic. I was seen by an amazing consultant at UCH (who everyone seems to know as he's a published author on the matter!) and he said that the NHS sometimes get hung up on the NT reading and forget to check the anatomy of the baby. In short, after my NIPT my numbers came back less than 1 in 10,000.

I understand the worry - I felt like I couldn't breathe for two days during the wait - but please try and stay positive, especially with 3.7mm (I've seen stories of 7.6mm turn out to be completely normal!). Also, how far are you? I was 11w at the time, and then my NT reading at 13w was 2.2..... goes to show.

Happy to answer any Qs if I can help at all xxxxxxxx

@Emmalizzie831

had 12 week scan (5th July…measured at 13wk3dayss)they noticed that the fluid on the back of the neck of baby was slightly high 3.7 so they had to combine my test results with my blood results to see any chance of abnormalities?Long wait….phone call this morning…test came back and I have 1 in 51 chance of baby having Down’s syndrome Doing tests on Wednesday to take sample of placenta… as my placenta is in a difficult position the way it is -it may be harder to take a sample (99% chance they can tell me how baby is) . I f they can’t do that they will have to wait till 16 weeks to take amniocentesis which takes fluid from around the baby….

Seeing lots of positive stories, can anyone else comment? Trying to keep positive is the worst…..sick with worry

Doh just re read and saw 13w 3 (which is technically over the time frame for an accurate NT measurement, no???)

@Emmalizzie831 as a previous poster has said, ARC are incredibly helpful. It's a difficult time and I found ( though many years ago now) that they were able to provide information so that I didn't feel baffled / confused by conversations with the doctors

Thank you for your kind words! :)
Tbh…the first option was cvs then amnio then NIPT!!!!???
I have heard though that NIPT is still only a screening and not a diagnostic ?xx

@KindKat what was/ is your story if You don’t mind sharing?
Yes I agree, I feel like I have the weight of an elephant sat on my chest 😓😓

[quote Emmalizzie831]@KindKat what was/ is your story if You don’t mind sharing?
Yes I agree, I feel like I have the weight of an elephant sat on my chest 😓😓[/quote]
I was the OP here so the first comment should cover the most of it, but my NT was 3.6mm on the scan and they sent me to UCH for testing and potentially the CVS at the same time - even though bloods weren't back yet! Bloods came back as I was waiting for CVS to put me into screening negative!! Baby looked perfect save for NT and I was told it can be bigger for no reason whatsoever....

NIPT isn't diagnostic as you say, but it's 99% accurate and I was happy with those odds. Also, they did a 45 min anatomy scan before the bloods and checked nasal bone (if DS, 70% won't have a nasal bone), fingers and toes that can clench and unclench (lots of the syndromes mean the hands will be "clawed"), heart check to look for four chamber etc etc - all in all it painted a very reassuring picture. That being said, if you want a certain diagnosis then CVS/amnio is the only way.

3.7mm is such a marginal difference to "normal" that I'd want to see what bloods said before the amnio - personal preference of course...

I wish I could give you a hug because I know the stress, the worry and the panic... please please stay positive. Even 1 in 50 are bloody good odds when you think about it, and those figures are created by an algorithm that's HEAVILY influenced by the NT measurement - which is all together unreliable with a big margin for error xx

Thank you so much, really appreciate your reply. I will definitely keep the NIPT in mind before going for amnio.
my appointment is tomorrow morning at 9:15 so I will let you know how it went xx

Update: @KindKat
Saw dr Davies at fetal medicine and he Said that the NT fluid hasn’t increased and still 3.7 which is still a good sign.
From what he can see looking at the scan there is nothing jumping out at him and everything looks okay.
He said he has seen scans that are worse.
He can’t do the CVS as placenta is in the way (didn’t really want the option to be honest) so he said it is best to do the NIPT test and see what the results come back with.
The original bloods from the combined test look absolutely normal he said the only reason the risk factor comes back with 1 in 51 chance is because of the NT fluid on baby (which hasn’t increased)And my age …he reiterated -it’s still only a 2% chance.

From what he can see at this early stage of looking at the baby, heart beating well (at this early stage)everything looks fine, normally it’s just the slight elevation on the fluid that they have to look for(which hasn’t increased).
In roundabout terms he said to us “I’m trying to reassure you” If there is something there that he thought, I’m not too sure about -he said to go straight for the amnio! But pushed for NIPT.
Have to wait for these results 7-10 days and it’s nearly 100% accurate 👍🏼@KindKat

@Emmalizzie831

Update: *@KindKat* Saw dr Davies at fetal medicine and he Said that the NT fluid hasn’t increased and still 3.7 which is still a good sign. From what he can see looking at the scan there is nothing jumping out at him and everything looks okay. He said he has seen scans that are worse. He can’t do the CVS as placenta is in the way (didn’t really want the option to be honest) so he said it is best to do the NIPT test and see what the results come back with. The original bloods from the combined test look absolutely normal he said the only reason the risk factor comes back with 1 in 51 chance is because of the NT fluid on baby (which hasn’t increased)And my age …he reiterated -it’s still only a 2% chance.

From what he can see at this early stage of looking at the baby, heart beating well (at this early stage)everything looks fine, normally it’s just the slight elevation on the fluid that they have to look for(which hasn’t increased).
In roundabout terms he said to us “I’m trying to reassure you” If there is something there that he thought, I’m not too sure about -he said to go straight for the amnio! But pushed for NIPT.
Have to wait for these results 7-10 days and it’s nearly 100% accurate 👍🏼**@KindKat

First of all someone needs to teach me how to reply without quoting the post I want to reply to 🤣

This sounds EXACTLY like mine. I hope you're reassured lovely - the NIPT will also be a massive relief... I do think they need to start to explain that NT isn't the be all and end all in the majority of cases.... I'm so pleased for you I can't even explain!! Also my surname is Davies, must have been a sign xxx

@KindKat are you on social media??
If you are drop me an add emmaholt85

When are you due?? And Did you have to pay privately because your screening came back as negative and low risk??xx

[quote Emmalizzie831]@KindKat are you on social media??
If you are drop me an add emmaholt85

When are you due?? And Did you have to pay privately because your screening came back as negative and low risk??xx[/quote]
Hey.. we booked a NIPT scan at 10 weeks 5. During the scan before the bloods the sonographer was unhappy with the NT. measuring 3.8mm so it's slightly over.

Our bloods came back for all 3.. low risk .. 1 in 10,000 😅 we have our first scan tomorrow and I am literally so nervous!! Like 1 in 10,000 is good right?