Nuchal Translucency - 3.9mm

[Piggel]

Hi,

I’m 32 and this is my second pregnancy. Fell pregnant with my now 14 month old in August 2021 (when I was 30). Thankfully that pregnancy went without a hitch.

However I’ve just left my 12 week scan to be told the NT is measuring at 3.9mm and that anything above 3.5mm is a concern. I’m currently measuring at 12 weeks and 4 days. I’ve also done the screening for Down’s, Edwards’s & Patau’s syndrome and should have the results within 2 weeks. There were no other physical abnormalities noted throughout the scan. But I’m worried sick and can’t stop crying. This all seems so scary and overwhelming and 2 weeks feels forever away for the results. Has anyone else been in the same boat and had a positive outcome? I’ve attached my scan but don’t believe this is showing the NT, but I just feel so anxious for my little baby.

[Janedoelondon]

@Piggel

Hi,

I’m 32 and this is my second pregnancy. Fell pregnant with my now 14 month old in August 2021 (when I was 30). Thankfully that pregnancy went without a hitch.

However I’ve just left my 12 week scan to be told the NT is measuring at 3.9mm and that anything above 3.5mm is a concern. I’m currently measuring at 12 weeks and 4 days. I’ve also done the screening for Down’s, Edwards’s & Patau’s syndrome and should have the results within 2 weeks. There were no other physical abnormalities noted throughout the scan. But I’m worried sick and can’t stop crying. This all seems so scary and overwhelming and 2 weeks feels forever away for the results. Has anyone else been in the same boat and had a positive outcome? I’ve attached my scan but don’t believe this is showing the NT, but I just feel so anxious for my little baby.

I was reading up about this earlier today as I am due my 12 week scan next week.

There is a reason the NHS will only classify a high or low risk screening result after the combined screening test - ie the blood test AND the ultrasound measurement. The two are put together and a risk classification given. The ultrasound enough is not sufficient to give an accurate result of risk.

In the leaflet I received from the hospital, I was told that if the blood test results are low risk you will be contacted within 2 weeks. If they are high risk, you will be contacted sooner (3 working days). So if they were high risk, you hopefully wouldn't have to wait two weeks. Worth checking with your midwife?

Easier said than done I know, but please try not to panic or let your mind go to the worst case scenario. As I say much easier said than done as I know I would be worried too. Sending big big hugs your way. 

[Janedoelondon]

On a practical note, why not give your midwife a call and explain your anxieties, they may be able to help put your mind at ease so the next few days are less worrisome for you. Xx

[Cece92]

Hi @Piggel I didn't want to read and run. Did the sonography seem worried or concerned at all? I agree with PP and to contact the midwife about your worries and concerns. She may be able to explain and answer any questions xxx

[sleepsforwimps1]

Hi OP, I had my little boy in 2021, early 2021 at my twelve week scan his NT was 5.4mm. I was 33 when I was pregnant with him. It was an eternity waiting for results and scans. Back then the NHS didn't offer the NIPT so waiting for 16 weeks for an Amnio was a nightmare, spent several nights up on the sofa just crying. The initial results came back as 1 in seven for downs and 1 in a hundred for pataus so both classed as high risk. I did an NIPT privately and the results came back really low risk, like one in seven billion! He's now nearly two and absolutely nothing wrong with him! All that worry was for nothing. Your reading is a lot lower so your chances are better than his were. Try and fill your days while you wait. I would count down to the next appointment but fill the days in between best I could. Sending hugs, it's a horrible time

[Brunonononooo]

Hi @Piggel i had very similar to you. Second pregnancy and the baby NT measured 3.6mm (I think it was anyway). I was worried sick, I felt that the staff were quite negative (presumably trying to be realistic). I had NIPT and all came back fine but I felt quite pressured into an amnio by fetal medicine. Anyway long story short the waiting was horrific but everything came back fine in my case and I hope this helps you. I remember being on here during that period and asking the same questions, I really feel for you going through this.

[ohhollyfred]

I was 34 and my NT was 3.9 so the ration that it calculated was 1/2 chance for DS. I was very worried but I had a CVS and it came back clear for the main three syndromes.

I think you should prepare for quite high risk screening ratio results but it doesn't mean it will be positive for anything so try stay strong and calm. I would recommend a NIPT test

Thinking of you

[RubyMae1804]

Hi just thought I would share my story so far with you all in case anyone is going through the same or similar situation.
I am 39 first pregnancy and 12 week scan all looked fine neck measurements were fine also. Got a call and my Screening had came back high risk that was last week I got the NIPT done and within 3 days had the results back it showed as high again for DS found out yesterday we are all devastated :(
so now the last test we can do to get 100% accuracy is the Amnio test which will be carried out at 16 weeks. This will give a full accurate reading. The other 2 tests are only screening tests and whilst they can be pretty accurate they can also give false positives and negative results, so please bare this in mind.

I have done so much research lately to try and find out as much as I can on it all and i Found a website which had some useful info on, I have found a slight bit of hope in this from other women who have had high NIPT back then Amnio was fine, it’s so confusing, this is the link anyway if anyone is wants to read over it.

https://www.nuffieldbioethics.org/blog/nipt-private

[Piggel]

Hi All,

Not sure how to reply to everyone so just making a separate comment! @Janedoelondon & @Cece92 the first thing I did when I got home yesterday was call the Community Midwives. The sonographer was ok but it just didn’t sit right with us that we were just sent away for the blood test and then home. A Midwife called us back and said their procedure for when anyone gets a raised NT measurement is for that person to be sent to the midwives in the Hospital to discuss what the reading means, what options are etc. instead of being sent away in a state of panic and shock and left in a Google spiral!

@sleepsforwimps1 @Brunonononooo @ohhollyfred @RubyMae1804 I received my fastracked screening results today and baby has a 1 in 18 increased chance of Down’s and a 1 in 142 increased risk of Edwards’ or Patau’s. Was again another teary conversation to be told there’s a high risk. But then when I was sent an email confirming the figures it works out to be a 5.5% chance of Down’s and a 0.7% chance of Edwards’ and Patau’s. In any other scenario you would think they would be great odds but I still feel worried. Anyway, the Midwife I spoke to yesterday went through my options and I’ve decided to go down the CVS route. I just need to know what’s going on. Appointment is taking place this Friday so hopefully I’ll have some initial results early next week.

Thank you all for your comments. It’s nice to not feel so alone but also not so nice that so many of you have been through the same worries!

[Bloodystressed1]

Hi - I had a 4mm NT measurement at my 12 week scan, horrible shock so I feel you. Combined with bloods and age (38 at time of due date) etc the screening came back with 1 in 2 chance of Down Syndrome, think it was 1 in 800+ of pataus/Edwards. I had the NIPT as a first port of call which came back low chance (1<10,000) for all. This reassured me for a short period, however this reassured feeling has now worn off having seen foetal medicine and had the can of worms opened on the other stuff it might be.
i have a detailed heart scan and 20 week anomaly scan (with foetal meds again) shortly, hoping nothing will be brought up from these . I’m also considering an amnio to get a definite answer as my head is scrambled.
Your odds are better than mine, try not to worry. I had a 1 in 25 chance of Downs with my DS and he didn’t have Downs.
I’m not sure what your feelings are about parenting a child with Down Syndrome but I can recommend the PADS Great Expectations group on Facebook - it’s for expectant mothers with a high chance or confirmed diagnosis of Downs. It’s parent-run but does not appear anti-choice, just a nice supportive space. Can also recommend ARC (antenatal results and choices) who know their stuff.
It’s probably the worst time in my life, when it should be so exciting - I really feel for you but you are not alone.

[Surprisepregnancy1]

Hi there - sorry you have had these results and are anxious. I’m currently feeding my 12 week old baby boy. Nuchal measurement was 3.6mm and I was worried sick. I had every test available, so NIPT, amnio and a detailed heart scan at 17 weeks. All was well with these and at the 20 week scan, and he arrived healthy at 39 weeks. That’s the shortened version of what was a very stressful pregnancy.

Your chances of baby being totally fine with that measurement are 70%. The tests and the waiting are just awful. But know that if the 20 week scan is fine, all will likely be well with baby. I hope fetal medicine are able to give you good support and advice. Sending love to you and baby.

[oodles50]

I am in a similar situation at the moment. I had my 12 week scan last week and had a NT of 3.5. Hospital gave me an appointment with fetal medicine medicine on Thursday and I was told my risk of DS was 1 in 63, although the chance of Edwards & Patau was low at 1 in 3500. I got my bloods taken for the NIPT the same day and they booked me in for an amnio in a couple of weeks time.

I am in that horrible waiting period where I am expecting the phone call with the NIPT results. I was told that it could take up to 2 weeks, but they were hoping I would hear something by the end of this week. I am obviously hoping that the results come back as low risk, but I know then I'll just start worrying about heart conditions etc instead, but I have to wait until 18 weeks when I have been booked in for a specialist cardiology scan...the not knowing is awful!

[RubyMae1804]

Hope it all comes back ok please let us know ❤️ I’m waiting to go for my Amnio in 2 weeks time just living each day with dread is awful wouldn’t wish it on anyone

[oodles50]

Just had my NIPT results from the hospital and they came back as low risk, so a sigh of relief! Just hoping now that everything is ok at the scan.

[Bloodystressed1]

Good news @oodles50 :) I had my echocardiogram scan yesterday at 19 weeks and baby’s heart is developing as expected, no issues - feels like another thing ticked off, anomaly scan next week. Hope for good news for others soon and hope this also gives a bit of hope to others on the thread.

[oodles50]

@Bloodystressed1 that’s great news! Fingers crossed all is well on your anomaly scan too :)

[Bloodystressed1]

Thanks @oodles50. will you still go ahead with your amnio? I’m back and forth about it all the time. My NiPT screened for a variety of stuff, not just the 3 main trisonomies, but the stuff it didn’t screen for is so rare that it makes me wonder whether it’s worth the risk!

[oodles50]

No @Bloodystressed1 I’ve decided not to do the amnio. The nurse I spoke to at fetal medicine today said they don’t usually advise the amnio of the NIPT comes back as low risk, but I could still have it done if I wanted. I know the NIPT isn’t a diagnostic, but with it showing low risk for everything, I don’t think it’s worth going through with the amnio. I just have the wait until mid August for my next scan now.

[SJG1987]

I just wanted to offer my support. It’s such a stressful and worrying time. I had a 1 in 38 chance of Edwards and Patau’s after a low PAPP-A and HCG reading. NIPT came back as low risk and I booked a private well-being scan to help calm my nerves and anxieties. Speaking to people on here is mostly really helpful … so just message away if you need reassurance, I know it really helped me.

[Piggel]

Hi All,

I had my scan and CVS done on Friday at King’s College Fetal Medicine. The Drs didn’t see anything concerning in the scan and the Nunchal Translucency had dropped from 3.9 to 3.3. However they still recommended the CVS test due to the blood results - I would have pushed for the test regardless. The CVS itself wasn’t too bad. A bit uncomfortable for a minute or so, the cramps weren’t too bad afterwards. I got the initial results back yesterday and the baby has tested negative for Down’s, Edwards’ and Patau’s. I now just need to wait another 10-14 days for the full results where they check for other abnormalities. I also have a scan with a fetal cardiologist next Thursday back up at King’s to double check baby’s heart. I wish I could say I feel reassured but I won’t until all the results are back. However I haven’t been dwelling on it too much since, but that’s because I’ve done everything I can atm. Plus we’re moving house this week so I’ve been kept very busy!

I’ll provide another update after my appointment next week. The Drs are hoping the full results will be back for us to review by then so fingers crossed.

Thanks again for sharing your experiences. Such a horrid stressful time for us all! Even if everything is ok I don’t think I’ll be able to truly relax or enjoy the rest of my pregnanacy.

[RubyMae1804]

@Piggel

Hi All,

I had my scan and CVS done on Friday at King’s College Fetal Medicine. The Drs didn’t see anything concerning in the scan and the Nunchal Translucency had dropped from 3.9 to 3.3. However they still recommended the CVS test due to the blood results - I would have pushed for the test regardless. The CVS itself wasn’t too bad. A bit uncomfortable for a minute or so, the cramps weren’t too bad afterwards. I got the initial results back yesterday and the baby has tested negative for Down’s, Edwards’ and Patau’s. I now just need to wait another 10-14 days for the full results where they check for other abnormalities. I also have a scan with a fetal cardiologist next Thursday back up at King’s to double check baby’s heart. I wish I could say I feel reassured but I won’t until all the results are back. However I haven’t been dwelling on it too much since, but that’s because I’ve done everything I can atm. Plus we’re moving house this week so I’ve been kept very busy!

I’ll provide another update after my appointment next week. The Drs are hoping the full results will be back for us to review by then so fingers crossed.

Thanks again for sharing your experiences. Such a horrid stressful time for us all! Even if everything is ok I don’t think I’ll be able to truly relax or enjoy the rest of my pregnanacy.

So happy for you this is great news! ❤️ it’s the hardest wait to have waiting for your results but try to enjoy the rest of your pregnancy now, update us on your final results.
Im just praying mine is ok next week 🙏 x

[Piggel]

Hi Everyone,

Just thought I would provide a final update to this post regarding my results.

Thankfully the full CVS array came back negative. I got the full results just 1 day shy of doing the CVS procedure.

Single nucleotide polymorphism (SNP) array result: CHORION Referral reason: NT 3.9mm
NO ABNORMALITY DETECTED arr(X,Y)x1,(1-22)x2
SNP array analysis of DNA from this pregnancy has been carried out using a microarray with ~1.1 million probes across the genome (see analysis details below). No imbalance known to be associated with the ultrasound findings was detected have also been excluded.
The results are consistent with a male chromosome complement.

And the results have confirmed we’re having another boy. We also had a heart scan done and everything is looking as expected, we have one more heart scan at 21/22 weeks but we had that done with our first anyway due to me being on Epilepsy medication.

I wish I could say I feel relieved but I think I’ve been so stressed, worried and guarded over the past few weeks that it’s going to take some time for those feelings to abate. But I’m starting to show now so can’t really hide my pregnancy anymore!

Hope this helps and thank you all for your lovely comments these past few weeks ❤️

[oodles50]

@Piggel that’s excellent news, glad everything is ok. I’m waiting for my cardiology scan next week, so fingers crossed ours turns out ok too!

[Piggel]

@oodles50 will be thinking of you, really hope it’s all ok

[IDTM]

Hi all, just came across this thread and wondered if any of you would like to share an update on how you’re doing?

I’m now in the same situation but with twins so invasive testing has been too risky for us. NT at 12+4 was one twin was 3.9mm and the other 1.9mm. NIPT was low risk at 10 weeks and this is my second pregnancy so the 12 week scan was a real shock. I'm 33.

Now 19 weeks and had an anomaly scan and first echo cardiac scan. Am SW London based and being seen by both Kingston & St George's. All looks fine.

It's been a truly horrendous time with lots of researching and some really pessimistic doctors. I was desperate for conclusive, diagnostic results but due to the other twin being perfect and NIPT low probability, we were advised against it as we could lose the whole pregnancy.

Hope everyone's doing well and some of you have been able to start enjoying your pregnancy x

[Bloodystressed1]

Hi @IDTM, so sorry you’re on this journey too, it is truly horrendous. I’m now 36 weeks and all still looking good - I had a 4mm NT, low chance nipt but I never had amnio either as I was too anxious about the risk, and then I changed my mind later in the pregnancy and was advised they prefer not to do it after a certain point. So I’ve decided not to bother now and what will be will be. I won’t lie though, the whole pregnancy has been fraught with anxiety and I’ve had some really down days. Nothing else has popped up on scans at all, the baby is a good size and shows no markers for anything - although the consultant has been clear that this doesn’t mean there isn’t a problem, he seemed cautiously optimistic when we saw him yesterday that the baby will be born “alive and well”. The only surprise we’ve had later down the line is that we were told baby was a girl at 20 weeks then yesterday at 36 weeks we were told - and shown - that it is definitely a boy!!! That’s been a bit deflating too to be honest as we thought we had one piece of certainty in the pregnancy and we’ve had it taken away, having bonded with the idea. But I guess it shows nothing is certain in pregnancy and anything can happen. Really wishing you well with it all, I was told that the heart and anomaly scan being fine was a really big hurdle to clear and I should feel reassured by that.
A part of me still wonders if the nipt was right and thinks the baby might be born with Down Syndrome (I had a 1 in 2 chance from the screening) but if that’s the case, we sort of feel ok with that now and it wouldn’t have changed the course of the pregnancy for us. Wishing you all the best, I might post an update when the baby comes as I’ve had a lot of comfort from some of these threads and people who have been through similar.