High NT and CVS

[Dcr22]

Hello everyone,

I’m new to this board and joined as I’m looking for some support.

This is my first pregnancy and I was really excited until I had my 12 week scan last week. It showed a very high NT measurement of 6.1 and I was devastated as this is significantly above average.

They immediately referred me to FMU at another hospital the next day and I had another scan which showed the NT as 5.6, but otherwise the baby looked normal for this stage.

They did a CVS there and then and I got the tests back today - the results were clear for Downs, Edwards and Patau’s. But I can’t feel too happy or relax because I now have to wait another week for them to test all 46 chromosomes for various other abnormalities. If this is clear, which I’m thinking is unlikely, they will then scan again and check for heart issues.

I just can’t see how the baby will be fine with a measurement that’s that high? I’m so upset and anxious as I had been looking forward to telling people and now I’m unable to.

I just want a healthy baby. The waiting is awful and me and my partner are devastated.

Has anyone else been in this situation? Does anyone have any positive stories?

Hello,

I'm so sorry you are going through this, it's truly a terrifying and emotionally draining time. Sending you huge hugs.

I'm afraid my stories aren't positive ones but there are positives within them. My first baby had 3.5 NT and the blood work pushed me into high risk for T13. I had an AMNIO at 16 weeks where it was confirmed. It ripped my world apart. I had a surgical termination at 18.5wks privately. It was a random bad luck event for me and not a genetic issue.

I then went on to deliver 2 healthy girls, who are now 4 and 6.

I'm with a new partner now and we're getting married next year. We fell pregnant in December 2019 much to our delight. My NT was recorded within the normal range (first 1.9mm then 2.6mm across 2 scans in 7 days at 12ish-13 weeks). Everything looked fine. Until it didn't. My bloods were bad (extremely low PAPPA). At 13 weeks they spotted heart issues, brain fluid and kidney problems. I had a CVS and in the second set of results it was confirmed T9. I terminated surgically last month at 16 weeks.

When I was researching NT's and other anomalies there were people with normal NT that had issues and people with high NTs that resolved themselves and nothing was wrong. Unfortunately, what I've learned, is you don't know until you know. Until you're told and all the waiting is scary and heartbreaking.

However, most people, if they lose babies to syndromes etc, go on to have healthy babies. I did and I do believe I will again.

You might be absolutely fine and the fact there are no other obvious markers is great! It could be just a blip. If it's something more sinister you could find yourself with a tricky decision but it might not be all bad. Feel free to ask me anything. My fingers are triply crossed for you.
Xxxxx

First of all, Thoughts with you, it’s a super stressful thing to go through and the waiting can be really hard. Wanted to write a reply even though I don’t have personal experience of my own - it may still all turn out to be fine so don’t lose hope entirely!

Not sure if your consultant provided some overall estimates for you of likely outcomes? About 30% of babies with nuchal measurement between 5.5 and 6.4 will be born without any major complications. 50% have chromosomal problems, about 20% a major heart problem. There’s about a 10% risk of miscarriage. Your situation is better than that already - even though you are waiting on your full CVS result the fact that the first chromosome result has been normal means the risk is now much lower than 50%. Same goes for other major abnormalities including heart problems - often that can be seen on a fetal medicine scan even this early, so the risk will be less than 20% (although definitely not 0). I don’t want to give you false reassurance either as I think it’s important to prepare yourselves either way - but your normal scan and preliminary CVS result definitely puts you in a better position.
Fingers crossed all is well.

@Kangaroo77 thank you so much for taking the time to reply and share your stories. I’m so sorry you’ve had to go through this horrible experience twice - you’re so strong! But it’s lovely to hear you have had two successful pregnancies and now have two little girls! That makes me think there is hope for me if I don’t get the outcome I want this time. I’m hoping like you, if it is bad news then it’s just bad luck rather than genetics. Thank you

@tenthousandspoons0 Thanks so much for replying, the consultant didn’t actually share any statistics so thank you for sharing these as they’ve made me feel a little bit less anxious. I know it’s unlikely that there is nothing wrong with the measurement being so high but I’m hoping that we can be that small percentage of success stories, or if something is wrong that it’s something minor and fixable.

Just have to play the waiting game now and try to keep my mind occupied - which is especially difficult in lockdown! Thank you both for taking the time to reply, I appreciate it

@Dcr22 I'm glad to help, I honestly feel your pain and know how difficult this waiting is. It's an absolute pleasure to help others so please feel free to chat any time. Keep up posted and stay strong and occupied, if you can. 😘

Still waiting anxiously for the next results. But I’ve also found out my Pappa-a is really low and I have to start taking aspirin which is stressing me out even more.

This whole experience has just been awful so far and it’s really hard to stay positive and see a positive outcome :(

@Dcr22 oh jeez, it's really hard not to stress over this type of stuff. Hang in there ❤️. When do you get your second results? Thinking of you xxx

Second set of results came back clear! 🎉 so relieved!

Now just need to get through the cardiac scan at 16 weeks and hopefully have a good 20 week scan and then I might be able to fully relax and enjoy this pregnancy!

Glad to here it was good news.

Great news :)

Amazing! What a huge relief. Fingers crossed for a peaceful and positive rest of the journey 💓🥰

Such a relief for you op!! Just wanted to say that with my twin pregnancy my twin B had exactly the same NT of 6.1. Twin A was 1.8. Other markers were seen also with twin B and they were really concerned. Anyway twins are 3y 4m now and both absolutely fine, no health conditions at all.

@mintchick so glad I read your post on this page as I am also 19 weeks carrying twins and one has a higher NT than the other, only slightly but a cystic hygroma too. I have my fingers crossed we end up with a positive outcome like yours. 🤞Same for you OP, glad it's all looking good so far.

@hollyhox I hope you get a good outcome for your twins! It’s such a worrying time.

And I’m glad you got one for yours @mintchick positive stories make me more hopeful 🤞🏻

@Dcr22 Hi there, so glad to hear your second CVS results came clear. I am in a very similar situation at the moment where my NT came high at 5.1 but everything else — heartbeat, nasal bone, harmony results, blood levels, first set of CVS — is completely fine. I am trying to stay positive for the second set of results! May I ask you to send a quick update possibly when you have your week 16 scan? It would be very helpful to compare this journey with someone who’s going through a really similar situation. I have read so many studies online and the further risks look like 5% only which means odds are on our side!

@Deniz90 Hi, sorry to hear you’re in a similar situation but congratulations on the first clear set of results! And the clear scans and blood results - mine came up with low PAPPA-A so I’m now on low dose aspirin. I’m not sure if this is related to the high NT or not?

Apparently the things they check for in the second set of results are much rarer so hopefully it will be good news for you!

Definitely happy to compare journeys and I’ll update you when I have the scan on Wednesday - getting nervous!

Fingers crossed for both of us 🤞🏻

@Dcw20 hi there and thanks so much for your quick response! I did read that the second set of results are for much rarer conditions so hopefully the odds are on my side. Sending you lots of good energy and love for your scan on Wednesday! Hoping you come back with reassuring results.

Following because I am in a similar situation...nothing to offer at this time except good wishes 💕

@Dcw20 how did your test go today? I hope well! I was thinking of you!

We had our cardiac scan and baby was bouncing around the whole time. Unfortunately we found out our baby does have a heart condition, however it is a relatively common and treatable one : Tetralogy of Fallot.

Baby will need an operation at 6 months old providing things don’t get worse which they said doesn’t often happen from this point. Obviously this is scary but this should fix things and baby should go on to live a normal life if all goes well.

It seems weird to feel relieved about this but compared to all the different scenarios that were running through my head, this seems manageable. I actually cried with relief in front of the consultant that it wasn’t something much, much worse.

We also found out we are having a girl 💕

Hopefully I can now relax a little bit and enjoy being pregnant and worry about the future a bit later.

Thanks for the thoughts and good wishes :) I hope those of you waiting on results get good news!

@Dcw20 I am sorry to hear that there is a problem but I have just read about the condition online and it is very reassuring to hear its one of the minor heart conditions therefore treatable luckily! I can imagine the relief you must have felt. And how lovely, a girl! 🎀

May I ask what week you're in? I am getting the heart scan done at week 16 but I have a feeling they will ask me to come in for a week 20 scan as well when the heart is fully developed.

Congratulations, a huge weight must be lifted off your shoulders now!

Thank you, definitely feel so much better now we have some answers!

I’m 16+3 at the moment. I think we will also have to keep going back for extra scans and check ups when things are more developed. What about you? Do you know long it is until you get your next set of CVS results?

@Dcw20 I have not had my second set of results come back yet. I am guessing that will be next week when I will be 14 weeks pregnant. I have a positive feeling that they will be clear but the wait is excruciating as you have also experienced! Once again congratulations and good luck with the rest of your pregnancy! I will post updates here later on.

I have everything crossed for you!

@Dcw20 second set of results came in yesterday and all normal! Such a relief before the weekend. Now have to wait around 2 more weeks for the heart scan... 🍀🤞🏼

@Deniz90 That’s amazing news! What a relief 🥳

I hope everything at the heart scan goes well for you! 🤞🏻