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 ....

What are the disadvantages and limitations of array CGH?  Array CGH does not detect all chromosome changes including very small changes in
individual genes. Occasionally, the quality of the array CGH result is not good enough to
find some small changes, although most significant chromosome changes are seen.
 Sometimes the array CGH result from the pregnancy can be difficult to interpret. In these
cases, it can be helpful to test blood from the parents to see if the genetic change we have
found in the pregnancy is inherited. This may help us decide if the genetic change is the
cause of the ultrasound findings.
 The array CGH test may also detect changes called ‘variants of unknown significance’
(VUS). This means there is not yet enough information available to know if these are
significant or not. Where there is uncertainty, these variants may not be reported. This is
because a VUS may not give any further information about how your baby will develop or
how the pregnancy will progress. This is in line with national guidelines on
‘Recommendations for the use of chromosome microarray in pregnancy’ from the Royal
College of Pathologists (June 2015 version 1 and any future updated versions).
 Array CGH might detect chromosome changes which are considered ‘low risk susceptibility
factors’ for some medical or developmental issues. Because the associated risk is very low
for some of these changes, or there is not enough information available to understand their
real impact, these will not be reported. This is in line with the national guidelines.
What else may array CGH tell us?
Array CGH may occasionally identify a chromosome change which is not related to the ultrasound
findings but which may have implications for the future health of your baby and possibly for other
family members. This is called an incidental finding. For example, it may show your baby will have
an increased risk of cancer later on in life. This chromosome change may or may not have been
inherited from a healthy parent.
Carriers of these types of chromosome changes could benefit from screening to detect cancer
earlier and improve the success of treatment. This may not be relevant at the time of the
pregnancy but if there is an incidental finding t

I haven’t read the whole thread, but thought you would appreciate a hopeful story.

My nt measurement was 3.9 ar 12 weeks. We opted for the CVS as we wanted a diagnostic test, so I’m not sure what’s different in the NIPT, sorry.

But anyway, all the tests, including additional heart scan were normal. We worried all through the pregnancy but ds is fine. 3.9 is relatively low and still leaves you with the majority chance of having a healthy baby.

I’m Sorry you are going through this op. It really does sound like your baby is fine. Good luck x

@Pandapotato any positive stories are definitely making an anxious wait a little easier. So thank you xx

Deffo pandapotatoe good to hear some good stories x

I thinking last night about you both and remembering what a difficult time the not knowing is. I’m sorry you are experiencing this.
My midwife was great, and after the tests were clear she kept reminding me that I had as good a chance as anyone of having a healthy baby, if not more of a chance as I had ruled a lot of stuff out. It sounds like you are in the same boat. Do try to hold on to that thought.
I found the information on the ARC (antenatal results and choices) website really helpful. I think they also have telephone support and forums if you want to talk to others.
All the best. I can’t believe how much I worried about our little one, and now here I am, up since 5am, watching him whack the floor with a rattle!
Good luck x

I was in your position a few months ago and made a similar post here. I wanted to give you a positive story too.

At 13 weeks twin 1 had a NT of 3.8mm and risk of downs was 1 in 30. I was devastated and convinced there was a problem. Consultant did a detailed anatomy scan to look for soft markers (lack of nasal bridge, clenched fists etc) and thought everything looked ok so suggested the nipt. Nipt came back low risk. She advised against the amnio at that stage at the risk of miscarriage was higher (risk is doubled in twin pregnancy) but said her threshold was very low and if she saw anything on the scans we would do the amnio.

I had 3 scans with fetal cardiology- I think at 16,25 and 30 weeks, and a fetal mri due to previous history. I saw my main consultant anything from twice a week to fortnightly as I also had severe polyhydramnios which can indicate a genetic condition. Consultant reiterated at every scan that things looked normal but she couldn’t rule out rare genetic conditions (and these wouldn't be picked up by an amnio).

Twins are now nearly 6 weeks old and both perfectly healthy - it was a huge surprise to me as I had prepared for the worst!

Re other tests, your baby will have a detailed newborn screening after birth. I was convinced I needed other tests (dd1 had a very rare genetic condition that was not picked up in pregnancy and she only survived for a year) but it was obvious that both twins were ok when they were born. Neonatal teams for both babies were at the delivery just in case and the c section was postponed twice as they wanted to have nicu beds available just in case.

Good luck and feel free to ask if you need more info on any of the tests/ how it worked.

So happy to hear similar stories, that sounds very similar to mine, I also had three scans at fetel medicine and they haven't picked anything up, also the heart scan, I am probably worrying over nothing but uts so hard to relax, I've been discharged now from fetel medicine last week and back to scans at my local, i have one booked in now on the 11th and then every 4 weeks for growth scans x

I have been given a 1:15 risk of Down syndrome which I know is high but I’m worrying even if Amnio is okay I have the heart issue which I’ve read in other areas can just ‘go away’ it just feels like such a long road and I know I’ll never settle properly in this pregnancy now. But your stories make me feel better - hearing real life stories makes it feel like everything could be okay.

@Robs20 I’m sorry about what you went through With DD1 cant even begin to imagine. I’m so pleased the twins are happy and healthy xx

Same as what my chances were redhead 1 in 15 x

@Missy38 we are living a very similar path. I hope we both get good news in the upcoming weeks xx

Deffo redhead x

Hi everyone,
I'm in a similar boat. Waiting for final CVS results which are due by tomorrow. Phone could ring literally any minute 😬
We went for early scan and harmony test at 10 weeks, and NT was 4.3. Still the same at 12 week scan, though no other abnormalities obvious. With my bloods, the NT and my age, the combined test gave me 1:3 for Down's syndrome. However, we were confident it wasn't that (Harmony all came back 1:10,000), and CVS has confirmed it's none of the three trisomies.
Struggling to get much meaningful support from the hospital, who have said they won't give me an early cardiac scan and that I have to wait for 20 weeks.
It's been a distressing time, as it has been for you all I'm sure. I'm so uncomfortable with all the things that can't be picked up by these tests that I've been considering a termination, though that is obviously traumatic too. Feels like being stuck between a rock and a hard place really 😞. First baby and never had imagined any of this. Was prepared for the miscarriage risk but not this horrible grey area...
sending love to you all

Hi @Amymone Good to hear your CVS has come back clear. It’s such a wait for 20 weeks for a cardiac scan though will they definitely not do it any earlier for you? I agree the waiting and grey areas are the worse. I haven’t needed to yet but have you contacted ARC I’ve heard really really good things about them. Plus I have to say when I rang the fetal medicine midwife she was very reassuring. I know what you mean you think everything is going to be so lovely and happy once you’re pregnant. It’s our first baby too so I understand what you mean. Reading threads on here have made me feel a lot better I have to admit rather than reading articles and stuff you find online xx

@Redhead43 thanks for your message. We're still waiting for second part of CVS results, which is the microarray of other genetic stuff I think. We expected the first bit to be clear, so that was a bit of a nonevent. I'm finding it really hard to know what to wish for...I almost hope they do find something horrid because then I'd feel like the decision was taken out of my hands. And then I feel like a monster for even thinking that! I can feel the baby moving quite a lot now, which is making things harder as this 'should be' the exciting bit, but I've spent the past month detaching myself from it to protect us from pain of loss I guess. It's definitely not all brunches and buggy shopping, that's for sure! I'm actually finding it a pretty humbling experience...you just never know what other people have had to go through do you?

My DH spoke to ARC and said they were brilliant. I definitely will at some point. Just finding it all a bit overwhelming at the moment and all the phone calls with consultants etc are exhausting. Hate the thought of blubbering down the phone!

How many weeks are you now? Growing and feeling pregnant is the worse when you’re in this limbo. You must not feel guilty for the feelings you’ve had because I think that’s totally normal - wanting something to take the decision away from you. I definitely understand that.

I totally agree....The reason I haven’t rang them is because I don’t seem to be able to have a conversation without crying.

I’ve read so many stories of people like us who thankfully go on to have completely healthy babies. I felt very detached at the start of this week it’s just a way to protect ourselves I think - but I’ve tried to tell myself that if everything is okay I need to still be looking after Myself this baby.

You definitely don’t know what other ppl
Go through. No one seems to talk about stuff like this do they xx

I'm 15 and a bit weeks now. Bump has just popped out... been trying to deny it but it's definitely there, especially when I lie down and can't hold it in any more in front of the mirror. Also can't deny feeling the movement this week. It was thrashing around like mad this morning! Under normal circumstances, this would be a really exciting milestone I'm sure.
Hope you're managing to hang in there! I have to say, my family and the friends who I've told have been completely brilliant, which makes a huge difference xxx

I’m about a week behind you then. I hate feeling more pregnant each day with this massive unknown hanging over us. I just want to get the amniocentesis done and results. Wish I could fast forward 3 weeks. Thinking of you xx

Hi amymore I was the same when I was 15 weeks, I was on 2 minds of termination if things didn't look good, I think we all think like that when things don't go right, because I had the cystic hygroma behind the neck baby only had a 10% chance of survival, i had to really wait until the 20 week mark to make sure all was OK and baby survived, I had the heart scan at 19.6 weeks then another at 23 weeks, they do it late as so baby grows more so they can see better, im nearly 28 weeks now and have a growth scan next week, also happy I found out I don't have gestational diabetes today aswell so aslong as baby grows are good I should go to full term, its hard to really relax and enjoy especially as this baby is constantly doing cartwheels in there lol xx

@Missy38 that sounds really tough. Such a lot of waiting, and to be given those odds as well. You must have been in bits. Is a cystic hygroma the same as NT or is it something different?

Yeah I think so, they call it anything over the cut off of 3.5 cystic hygroma oh actually it may be because the fluid was behind baby neck near the spine 🤔 it was still classed as NT also so unsure if that depends on where the fluid is on baby? It was there on my 12 weeks scan at 3.6 and resolved itself by 14 week scan and stayed away so far 🤞

Hi All
@Missy38 hope your growth scan is okay today xx

@Amymone did you get your final CVS results yet been thinking about you both. My amniocentesis is tomorrow. Feels like I’ve waited a lifetime for it and now it’s here it’s almost like the hard part is only just starting xxx

Hi redhead, thanks for remembering, yes it went perfect, coord is all good fluid is all good, head thighs etc, and hes weighing 2lb 2 at 28.1weeks, just a little under but its OK, currently in the breach position and very comfy lol x

Hi there, thank you so much for thinking of me. The supportiveness of the pregnancy threads on here is truly amazing 💕

We did get our test results this week, and it's not good news for us. The microarray from the CVS picked up a rare chromosomal disorder (1 in 15000) that is multisystemic and has very variable outcomes. For us, it's the end of the line and we have chosen to TFMR, though it's obviously a really personal choice and continuing may be right for other people.

What I would say, for others in similar situations with a high NT, is that the Harmony test and the CVS are the very best things we could have done. This syndrome shows up as high risk for Downs on the combined test - I was given 1:3 chance. If we hadn't had the harmony test to pretty much rule this out, they would only have tested for the three trisomies on the CVS. A related heart problem might have shown up at the 20 week scan (probably explains the high NT) but we would likely not have known about the syndrome until birth. I think few cases of this are picked up antenatally so from one perspective you might say we've been lucky, depending on your viewpoint obvs.

Next steps for us will be to get through the TFMR 😬 and then have genetic testing to see if something in our genes has created this or if it's been spontaneous rotten luck. Likelihood is the latter and got fingers crossed for that.

Either way, it's been a 1:15,000 chance so bad luck anyway. Chances are your screenings will be fine - the docs were shocked that mine found anything. But I'd 100% recommend full microarray testing for anyone with doubts. If the NHS won't do it because they don't consider enough risk factors, you can get it privately too. Think I'll be doing that for any future pregnancies, whether there's a high NT or not.

Good luck everyone and I have everything crossed for you. This is a miserable, drawn out process for anyone to go through and you're doing so well xxx

Ah amymone, sorry to hear about this, it makes me double think that I should have done or asked more about testing, I hope this was just a blip for you both and you can have a problem free pregnancy if you decide to try again xx