High NT at 13 weeks, everything ok since....

[MamiBets]

Ok so baby's NT was measuring 3.9 at 13+1 . We were automatically referred to fetal medicine as it was >3.5. My combined screening came back as high risk for Downs (1 in 134) so I was then offered NIPT. This came back low risk.

My original consultant indicated that he thought everything would be fine but he wanted to keep close eye as high NT could indicate heart defects, so wanted to check at the 20 week anomaly scan and also see the cardiologist. Amnio was briefly discussed but he indicated the risks associated with it were greater than the chances of finding out our baby had a chromosomal abnormality.

Fast forward to 20 weeks my original consultant was off sick so I saw someone else. He could see no problems at all when scanning the baby, all anatomy and structures appeared healthy.... The cardiologist also scanned me the same day and also found to obvious defects with the baby's heart. I thought this was good news but consultant mentioned amnio again, and stressed the NIPT only ruled out 3 main chromosomal abnormalities ... We haven't ruled out the possibility of any others . I was in shock as it was different to the conversation I had with original consultant and without my husband there I could think straight to ask many questions.

After long discussions with my husband we don't feel the risk of an amnio is worth it, we would likely continue with this pregnancy, especially as we are now 21 weeks. One question my consultant clarified for me was that two of the main defects that could potentially cause the baby to be very unwell and either not make it to the end of the pregnancy or for not long after birth have been ruled out.

What other conditions would a high NT indicate ?
Would screening be done (other than the usual newborn screening) after birth that is less risky and invasive to see if there were any chromosomal conditions ?

Sorry for long post but I can't stop thinking about the uncertainty and wanted to know if anyone had gone through anything similar, or have any advice ....

3.9 is obviously over the threshold but doesn't seem high enough to rule out that it could have just been a fluke? For reference, my NT at my 12 week scan was 6.1. When we went for my CVS a week later, it has jumped to 7.6. Our daughter had Turner's Syndrome which we found out as a result of the procedure.

Unsure about screening after birth, but I do hope that everything is okay with your baby.

Mamibets your story is the pure exact as mine, except my nt was 3.6, at 12 week scan but gone at 14 week scan, I also had 1 in 15 chance for downs and my NIPT came back low, I also declined the amnio as the heart defects were none at my 20 week scan and all is looking OK, I had a scan at 23 weeks and still heart and everything looks normal, I have another scan the 11th June then every 4 weeks, I was on 2 minds whether to just go for the amnio but then now is the risk of early labour, im 26 weeks now and I think what will be will be but I totally understand you, I've not enjoyed any of this pregnancy because of constant worry, the only thing i enjoy is feeling this very very active little boy moving around lol xx

Oh yeah and my consultant did mention that baby can have a simple blood test to rule out other chromosome abnormalities when born if I wanted x

Are you sure that NIPT only looks for those three? I thought it was more like Turner syndrome but not as accurate for those. If your NIPT was low that's a really good sign op

I think the NIPT is mainly for the chromo 13, 18 and 21, not 100% sure though

I think the NIPT can test for other things like Turners but from what I’ve read it is significantly less accurate for these conditions, whereas it is very accurate for T21, 13 and 18.

I’ve read lots of stories where a raised NT (particularly when it’s between 3-4mm) has turned out to be nothing and the babies were born healthy.

My baby had an NT of 6.1 at my 12 week scan so I ended up doing lots of reading around different forums and things whilst I was waiting for results. It turns out she has a heart condition which was the cause of her NT.

Keeping everything crossed that everything is fine for your little one 🤞🏻

Dcw20 I think I’m going to be in similar position to you. My NT was raised at 4.2mm and after a more detailed scan by the consultant a ‘potential’ heart issue was picked up. I’m waiting over 2 weeks for amino as unable to have cvs due to placenta position. When Did you Find out about the heart condition? And what were the indicators if any?

Sorry for all the questions, it’s our first baby and reading all your stories makes me feel not Completely alone In this. I hope all your babes are well 🤞🏻

@Redhead43

Sorry you’re going through all this stress as well!

It’s good you’re getting an Amnio so you can find out more but the waiting is horrible - hopefully your results come back quickly when you do have it.

I found out at 16 weeks. I had a CVS due to the high NT which came back all clear for chromosomal abnormalities. They then booked in an early anomaly scan at 16 weeks to investigate further and that’s when the consultant spotted a problem with the heart. I saw a cardiologist the same day and they gave me the final diagnosis. It should be treatable though so I actually felt a weird sense of relief that it wasn’t something worse or something they couldn’t fix.

I hope you get good results for your baby :)

@Dcw20

Thank you so much for your kind reply. I’m sorry you’ve had to go through all this worry.

Did they tell you what the anomaly was that concerned them? I’ve obviously over googled my scan report and seen worse case scenarios.

I’m so so glad your little one is okay and it can be fixed/treated. I hope we get a similar outcome to yours. It’s just a horrible waiting game.

Xx

@Redhead43 it’s Tetralogy of Fallot - it’s classed as a major heart defect but it’s quite a common one as far as heart defects go. Our little girl will need surgery when she’s 6 months old providing things don’t get worse between now and delivery. This is obviously very scary but we’re going to try and forget about it for now and enjoy the pregnancy as it’s been so stressful so far!

We weren’t going to find out the gender but with all the stress we wanted some good news so we found out from the CVS.

Hopefully you will be one of the cases where it turns out to be nothing wrong though. Keep me updated! Xx

@Dcw20

Thank you for sharing your story. I hope the rest of your pregnancy is smooth and your little girl keeps out of mischief for the next few months so you can enjoy it.

Stay in touch and keep me updated of you and your little ones progress

Thank you for replying - this site has been a bit of a godsend xxx

Goodluck both of you, im lucky there was no heart defects detected so far, but now I have to wait until baby is born to make sure there's no other problems with chromosome abnormalities etc even though they can't see anything out of the ordinary but still a stress full time when at the start they said my nt of 3.6 was a marker for down syndrome but has now cleared 26 weeks today and not been enjoyable at all 🥺

Hi @Missy38 Thank you for replying sorry I’ve been off radar for a few days. I’m
So pleased no obvious signs or heart defects can be seen on your little one. Did you go through any CVS or Amnio testing? X

There are thousands of syndromes and genetic blips that cause this to be the case . My sons NT was fine and I had a cvs that showed he was ok but he has special needs .
Genetics is such an unknown still that it could be anything but the fact they can't see any physical issues and the heart is sound is a good sign that the baby won't be poorly .
My son is 9 so things have changed but I understand that the only way to be reasonably sure now is to have an amnio and a micro array done to see if it picks up any genetic miss spellings that can cause learning difficulties or special needs .

Sorry @Missy38 I just read back about the Amnio. Keep us updated of your scan on 11th. Fingers crossed all is still looking positive. I’m sorry it’s such a stressful time when it should be so exciting x

Thanks redhead, will up date next week deffo, this baby is a busy little wriggler, sure he never sleeps lol hopefully same news at next scan, not looking forward to it thou as I'm supposed to start the blood clotting injections same day 🙈

There are literally hundreds of conditions such as micro deletions or duplication. You could ask for full micro array by amnio. That can pick up tiny changes.

However if everything looks good in scan then that s good sign.
(Ds had slightly high nt and other scan possible issues. Not a trisomy. But does have a microdeletion. More such conditionsnow detected ante naturally
Like Down syndrome huge variability in how it presents)

www.nationwidechildrens.org/family-resources-education/health-wellness-and-safety-resources/helping-hands/microarray-test-analysis

www.rarechromo.org/

Support for any chromosome condition

@Missy38 injections aswel 😩 They’ll be worth it for that little wiggler in there 😘 xx

Thank you @Embracelife I’ll take a look. Got a long wait for our finer Amnio results yet x

Embracelife is that the blood test that is done on the baby when born? If so that must be what I have been offered when hes here

You can get micro array done prenatally I believe

www.ncbi.nlm.nih.gov/pmc/articles/PMC3877835/

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