High NT at 12 week scan, help!

[Cocomambo123]

Hi all

This is my first time ever writing a thread and have sat and read every single bit of information on here the past few days but really hoping to chat to some of you ladies.

Me and my DH had our 12 week scan on Thursday. Our baby was the correct size, heart was fine etc. But the sonographer told us our NT was slightly raised and was 3.8mm (cut off is 3.5mm). She really struggled to get the reading as baby wasn’t co-operating well. We have been referred to see a specialist tomorrow morning for further scans and to receive my blood test results. Judging by all other posts I have read most ladies opt for a CVS? I am so so worried as I feel this is going to be a long road of heartache and waiting. I know no one ever thinks it will happen to them. This is our first baby and I’m 27 years old so naively thought I would automatically be low risk. :( has any body got any stories they could share? Open to good and bad! X

@Cocomambo123 this is a hard situation to be in. as you say lots of waiting, wondering and worrying, but there is a good chance that it will turn out to be ok for your little one.
The measurement is of a collection of fluid, so it may not measure the same tomorrow, but a measurement of 3.5 or above automatically means that you will be offered further investigation. Being offer tests doesn't mean that you should necessarily have them - you need to think very carefully about what is right for you. These are tough things to think about because you need to face the awful question of what you would do if....This is something I am involved with a great deal in my day to day specialist work, so happy to share any info that may be helpful.
At 3.8mm there is a good chance that this will just turn out to be normal for your baby and of no significance. Measurements can be very much higher and the higher they are the more likely an issue will be identified. The other possibilities are a chromosomal/genetic issue (which is why CVS is offered) or a structural issue of the heart.
You may have heard about NIPT (non invasive testing) for Downs, Edwards and Pataus, but this would not normally be our recommendation in a situation with an increased NT because it may be a different issue which would be missed by NIPT.
A specialist fetal cardiac scan can usually be done from about 16-17 weeks, before that the heart is too small and underdeveloped.
MN don't seem to like it if you give weblinks on here, so if you want to PM me I can give you some that you may not have found.

Hi there,
Just wanted to lend another message of support. I had a similar measurement to you at 12 weeks (NT of 3.7mm). We opted for CVS, and the results came back normal. I'm now 32 weeks along, and the subsequent tests have been normal (echocardiogram / anatomy scan, etc).
I do want to put in a good word for opting for a CVS if you can. I was very scared to do it, but found the procedure to be much quicker and less worrisome than I imagined.
This has been extremely stressful--you are not wrong about that. I continue to have anxiety as we approach our due date. HOWEVER, as SussexMidwife mentioned above, there is a very good chance that things will turn out ok for you (and me!) At least a 70% chance, according to the genetic counselor I met with. And with each good testing result, that number gets higher and higher. And I have read so many stories now where baby has come out just fine! I am wishing you the best of luck. Hang in there.

Hey both! Thank you both for your advice. Thought it would do a slight update. We received 1:326 for downs and 1:33 for Edwards and patau syndrome so we are of course very worried. They took us straight for a CVS and we will hear the results tomorrow. The did a more detailed scan as they said they can usually pick up on some markers that our baby has Edwards or patau syndrome. Everything looked well..bar the sonographer has slight concerns out baby has a smaller chin that what should be at this time. They said possible micrognathia. I have googled and googled and now that is filling me with even more worry. I know some cases are mild and i would hope that would be the case for us. @Sussexmidwife do you know much around this subject at all?

Thank you both
Xx

I have no advice for you but wanted to give you my warmest wishes for good news.
We had a diagnosis of Patau a number of years ago and if I remember rightly our measurement was quite a lot higher than yours and our risk was something like 1:6.
It was such a worrying and stressful time and I googled relentlessly. I hope you get positive results nice and early tomorrow.

Ask for a full microarray testing. There are many other syndromes beyond downs Edward's patau. But many have very broad range of outcomes

@Cocomambo123 Such a worrying time. Where did you have the CVS done? Yes, these issues (including micrognathia) are things I deal with all the time. Do PM if you want to. Sending love x

Thank you @Jessstar for your warm wishes. I really hope we get good news tomorrow. I am also very sorry about your diagnosis, it must have been so hard for you so thank you for sharing your story!.
@Embracelife we have had the microarray testing, they took both our bloods yesterday as well as the CVS so I believe them results will take a further 2 weeks, I guess even more waiting and hoping! Thank you very much for your comment! X

Hello, I had exactly the same (3.8mm NT). I had a huge panic. I am 30 so slightly older than you but still didn’t expect any issues. Sonographer was very doom and gloom and booked me in for a cvs two days later, however when I met the consultant she did a scan and found no soft markers for issues so suggested the nipt instead.
Nipt came back as low risk for downs, edwards and pataus. I am having scans every 2 weeks as my first daughter died from a rare genetic condition. This baby also now has Polyhydramnios- that plus the higher NT are both markers for chromosomal issues so I am bricking it!
So far nothing showing on the scans (but nothing showed with dd1 either so I am not massively reassured).
Good luck with your cvs results!

Ps forgot to say, I do know a bit about micrognathia (dd1 had this but it was found after birth) so can try to help too.

Hey @Sussexmidwife I have PM’d you!! Thank you so much x

Hey @Robs20 thank you very much for your message. And for also sharing your story, I am very sorry you’re going through such a stressful time without any solid answers. I really hope you can continue to have a healthy pregnancy and your baby is ok!!

How did you get in with your DD1 regarding the micrognathia? I have googled and some look very severe and some very mild! I am trying to be positive but every story I read has a negative ending!
Thank you again and sending you love and wishes during your pregnancy x

@cocomambo123 it really wasn’t noticeable and I wouldn’t have known if I hadn’t been told. It was one of many things that led drs to say she had a genetic condition. The most significant part of her condition was that she couldn’t open her mouth widely (and therefore didn’t have a safe airway) - however this is very rare (only a couple of other known cases in the world) and I don’t think is linked to micrognathia.
I think there is a link to Pierre Robin syndrome but I think that would show other soft markers on a scan.
I think in lots of cases these things turn out to be nothing and baby is absolutely fine. When do you get your results?

@Robs20 oh I’m so sorry that you went through that. It doesn’t seem fair that our babies suffer. Thank you for sharing. There are no other soft markers on my scan bar that. The sonographer said it was hard to get a proper look so still a concern there. We get our CVS results tomorrow, and the second part in 2 weeks which rested both our bloods and will see for further conditions. After that we have a 16 weeks scan with a specialist who will hopefully have further answers!

I had this with my first. I opted to have additional scans at 16 weeks instead of cvs. My DS was born with a hole in his heart that thankfully has only required monitoring. Like you everything else was fine on the scan, no other markers. We had 1:100 for Edwards, 1:250 for downs.

Heart issue had not effected him at all. Really hope you get a similar outcome.

@hmmimnotsure hey! Thank you for your message! That is amazing you have a beautiful boy, I’m so happy it worked out for you and that so far his heart has been good with just monitoring. I love hearing success stories, it gives me some hope!