NT 3.8mm, 1 in 28 risk of downs

[Robs20]

Posted this on the pregnancy board but haven’t had any responses. Can anyone here help?

Totally gutted. My first daughter had an undiagnosed condition and died at the start of this year.

I was very nervous about this pregnancy and the risk of something happening again, but so hopeful it would be ok.

Just had my nuchal scan and twin 1 has NT of 3.8mm and 1:28 risk of downs. Twin 2 was low risk (but then again so was my daughter and she wasn’t ok).

I’m having the cvs either tomorrow or Thursday but now feeling confused. The sonographer gave us a leaflet but basically said nothing else. She didn’t comment (and I didnt think to ask) on whether the babies were physically ok. I’ve read there are other physical markers of issues (heart defects, nasal bridge etc).

Would really appreciate other experiences of high NT, good and bad outcomes so I can prepare myself. They have said if baby doesn’t have downs it is likely to have a cardiac issue :(

[SylvanianFrenemies]

I had a raised NT (higher than yours) with DC3, he had Downs with multiple physical abnormalities. I eventually had a termination.u

I'm so sorry about your daughter. Was her condition genetic, and could it be relevant here?

The ARC-UK helpline is excellent, I really recommend it.

I'm sorry you are going through this and hope you get some positive news soon.

[Robs20]

Thanks. I’m sorry you went through this too :(

We don’t know if it was inherited or not - we had whole genome sequencing and they found nothing, but there was clearly something wrong with her so it might be that it was so rare, the genetics testing doesn’t look for the condition yet. We were told the risk is either 1 in millions (random/ not inherited) or 1 in 4 if inherited from us. No other medical conditions on either side so unusual for such a severe condition to just pop up.

It seems v bizarre to me that dd1 had something and now this. Surely there is an issue with me/ DH.

Can I ask, did you find out about the physical abnormalities at your 12 week scan? I should have asked this but didn’t.

[OrangeZog]

Was this your 12 week scan? I think looking for nasal bone and heart abnormalities in the first trimester is very tricky, at least on the normal scanning equipment. I really do believe that any physical concerns would have been mentioned and also written on your notes.

I second ARC for more advice. I’m really sorry for what you have been through and this continued anxiety. My daughter died last year not long after she was born and it really does seem that knowledge of what can go wrong in the womb and why, still seems to be a long way behind.

I hope this week’s tests come back negative and your pregnancy continues smoothly.

[SylvanianFrenemies]

We didn't find out anything useful at the 12 week scan beyond that there was a concern. I think that the preference is to leave the more detailed scanning to the fetal medicine specialists once a potential problem is known about. Heart issues (which my DS also had) are, I understand, easier to see a few weeks on.

The CVS should help make the picture clearer, I hope you can get it soon

[Robs20]

Yes it was the 12 week scan (although at 13+4). I have the CVS either tomorrow or thursday. It’s going to be a long few days...

[cattaxi]

We had a measurement of 3.9. All the screenings were clear (cvs & cardiac scan.) ds is now a month old and perfect.
I’m so sorry you are experiencing this. It’s so stressful. And I’m sorry for your previous loss.
3.8 isn’t massively high - the statistics are in your favour.
Definitely second the ARC recommendation - so much helpful stuff on their website.
Sincerely hoping you get a good outcome 💐

[Robs20]

@cattaxi thank you for giving me a little bit of hope! I’m so glad things worked out well for you. After you had the clear cvs and cardiac scan, were you considered low risk? I am wondering if there is still a high probability of chromosome issues even if these things are clear...

[cattaxi]

Yes, they discharged us from foetal medicine at 23 weeks & treated it like a low risk pregnancy.
I know each case is different, but it really helped me to hear both the hopeful & the negative stories when I was trying to get my head around it all.
Good luck with the cvs. I didn’t find it half as bad as I thought it was going to be. The waiting was the worst bit. I’ll be thinking of you.

[Mummylanie3]

I had a nt of 4.1 and a 1 in 25 chance had amnio last week and results came back Thursday all clear just have a heart scan on 4th now hope everything goes well for you

[Robs20]

@cattaxi and @Mummylanie3 thank you! I went to bed last night assuming the worst, but I have a glimmer of hope now. I am so glad to hear both of your amnios came back ok.
I am nervous about the procedure. DH is a total wimp and faints at the sight of a normal needle so I will be there alone. Is it really ok or should I prepare myself?

[cattaxi]

@Robs20 when I had my cvs they said they have more problems with partners fainting than the women!
I really didn’t think it was as bad as that. The needle is very big. It only takes a few minutes, and you honestly barely feel it. I had some period type pain for about 24 hours after, but nothing major. I did rest up in bed as they advised. My consultant was lovely & calm & explained everything as he did it.
Hopefully you will have a similarly positive experience.

[Mummylanie3]

@robs20 I took my friend in with me as I'm a single parent but she was amazing so was my consultant and midwife I didn't look so didn't see the size of anything I think with CVS they numb the area first with amnio they don't I did get a sharp stabbing pain when they inserted needle lasted about 5 seconds the whole procedure took less then 3 mins but everyone is different some people don't feel a thing and once needle was in ifelt fine I would say take someone in just to hold it hand and look at focus on them not what's happening but you will be fine it's the waiting for results that was worse I was driving myself mad but first lot was in 4 days later hope it all goes well for you just think it will be over with in a matter of minutes they spend more time scanning and setting up then actually doing it xx

[doadeer]

I had an NT of 4.7 and my baby was totally fine we had CVS - he's 10 months now. It's a horrible time I feel so sorry for you x

[Robs20]

Thank you for your reassurance. We are moving house on Friday (couldn’t be worse bloody timing!!!!) so I will rest as much as I can tomorrow.
@doadeer so pleased it worked out ok for you. After everything we went through with dd1 it is really hard to be positive, but I keep reminding myself, 1 in 28 is still 27 chances it could be ok :)

[doadeer]

Oh poor you! Does it help to think of it as 3.5% chance?

[Robs20]

So, I didn’t have the CVS today. I saw the consultant who did a scan and physically everything looked normal. She measured the NT as 3.6mm and said it is only slightly high. She recommended the nipt test and if that comes back high risk, she will do an amnio in 3 weeks.
She has also spoken to dd’s neurologist and the genetics team we saw before. Booked cardiac scan for 20 weeks and mri at 22. So it seems like she is really on it.
I am feeling slightly more hopeful today.....

[Nanmumandmidwife]

That sounds like a good and worthwhile appointment. So glad you have got a team around you now who are proactive. Will continue to keep fingers & toes crossed for you
Hope the move goes well xx

[cattaxi]

That does sound like a helpful consultant. It’s great that you have someone so thorough on your team.
Crossing everything for a good result.

[SylvanianFrenemies]

That's great that it went so well.

For contrast, at my consultant appointment they could see a lot of fluid around my baby, and the NT was higher than measured by the sonographer.

It sounds like you are getting very thorough care, I hope things continue to go well.

[UncleMatthewsEntrenchingTool]

I had a 4.6mm and 1 in 3. Amnio was clear and DS is perfectly fine. It can turn out ok.

[Robs20]

Thank you @Nanmumandmidwife and @cattaxi! It makes such a difference to have a doctor that is on your side. She knew I was nervous as she was going through and saying x looks normal, y looks normal, then said, I am saying all of this out loud for you benefit. She also asked me why I had my eyes closed for the whole scan!

@SylvanianFrenemies sorry to hear that :( what are the next steps for you?

@UncleMatthewsEntrenchingTool thank you for another positive story. So glad to hear it worked out well for you!

[SylvanianFrenemies]

@robs20 thank you. My baby had Downs and a number of major physical abnormalities. I had tfmr several months ago.

[Robs20]

@sylvanianfrenemies I am sorry, I totally didn’t read properly.

[SylvanianFrenemies]

Don't worry, I realised that. Hope you have a restful few days and that things go well.

[cattaxi]

Hope you are doing ok @Robs20