High NT, confusing screening results Down Syndrome

[Babs86]

Hi there.
I just turned 35, but got pregnant at 34 (much appreciated baba after fertility troubles). We had a private scan at 10 weeks and it showed increased NT (3mm) but still within a norm. This however left us very concerned for our baby, as I did a lot of reading and knew what this could mean. The 2.5 week for the 12 weeks scan was an agony. At our 12 weeks scan (I was actually 13 weeks 0 days) NT has sadly increased to 6.6mm, meaning it was very high :(

We just received our screening results from blood at it shows high risk for Down Syndrome (1:21) :(

But when I asked for detailed results, it actually shows low HCG (0.76 MOM) and high PAPP-A (1.21 MOM). Which is the opposite to what markers are for babies with Down Syndrome (high HCG and low PAPP-A).

We are now confused... Should high NT be the only marker that contributed to my high risk results for Down Syndrome?

Meaning there is a HOPE?.... Or are we totally wrong? (We are not medical professionals, our knowledge of the subject is only from Internet readings...)

Please if anyone can shed a little light?

Looking forward to hear from other mums with similar experience.

We're so very worried :(

Oh bless you xx I know exactly what this feels like x I too had a result we felt a bit worried about and went on to have the NIPT blood test to gain some further clarity - have you thought about doing the NIPT test perhaps? It’s non-invasive x sending love as I know what the worry is like xx

Unfortunately a high NT is a significant marker for Down Syndrome. We had a high reading, opted for the CVS which gave us the confirmed diagnosis. We had a termination at 14 weeks. I was 32, however am now pregnant at 33 with a healthy baby.

I’m sorry you’re going though this. As I’ve said so many times, the waiting for results is the worst part. I wish you a positive outcome. I’ve also read stories of babies with high NT being totally fine.

A high NT can be a marker for Down's syndrome, but might also indicate a different chromosomal anomaly, or infection, or other issues (e.g. e heart defect). Can I suggest contacting Antenatal Results and Choices? www.arc-uk.org. As the NT is rather high, it might be worth considering a CVS, which is a diagnostic test. Non-invasive testing only tests accurately for a limited range of conditions. Best of luck to you, I hope you have a positive outcome.

We had a high NT only. Normal bloods. We opted for the CVS as I wanted a proper diagnostic test. Got the results within 48 hours that there were no chromosomal anomalies.

We were then referred to a heart specialist who performed a detailed heart scan at 21 weeks. All turned out well for us. Hope you also get good news.

Hi Dogsandbabies, thank you for your input ❤️ That's what I was wondering: high NT with normal bloods. I had a CVS yesterday, both midwives and a doctor confirmed my bloods are normal and do not fit to Down Syndrome, Turner Syndrome or other sex chromosomal abnormalities. However detailed CVS was requested for rare chromosomal abnormalities. Praying that with my normal bloods the results will come clear.
I'm so happy to hear your worries turned out well for you ❤️ How old is your baby?

Hi LittleLottieChaos. Congratulations on your healthy pregnancy 🎉❤️ I'm so sorry you had to go through this with a previous pregnancy. It's so difficult.
I had a CVS yesterday and it was confirmed that in my case due to correct levels of PAPP-a and HCG Down Syndrome is very unlikely. My test was send for detailed chromosomes check for something more rare though... So we have 2 weeks wait now. On the other hand the baby looks anatomically normal, there is nothing else wrong, baby is slightly bigger than my dates and it's moving a lot, a little wriggler they called him/her 🥰 So it is all a good sign too. Praying it comes clear, nonetheless we're so worried😥

Hi offbeatgirl. Thank you for sharing your thoughts ❤️ I had CVS yesterday with detail scan which showed no other anatomical abnormalities. Baby is bigger than my dates and moves and wriggles so much 🥰 It would be really devastating to learn there is in fact chromosomal abnormality, when my bloods are normal and baby appears healthy otherwise 😥 Praying for good outcome ❤️

Thank you Sunshine ❤️ So sorry you were going through the same. Has everything turned out well for you? We went for CVS instead as it tests for many more abnormalities than NIPT, that's what was recommended for us, in our case NT was quite high. If it's ok to ask what was the NT measurement in your case? Sending love ❤️

There are many many syndromes other than DS.
You can adjust for full microarray if you do cvs or amnio.
You may not get clear answers
"Not DS" just means that.
High Nt could be for some ome other reason or not
Later scans can show if any organ issues for example

@Babs86 hope you get those results back quickly and all is well! Great that they said all is looking good with the baby otherwise.

I found this board to be a really useful place to hear about other women’s experiences, plenty of great support. Xx

@Babs86
How are you going? Any results?
I just got very similar results today at the 12/13 week scan. I was told there is no hope in my case:

Hello, I am going through the similar situation. Could you please share your NIPT results? I am considering for an NIPT or CVS.

Thanks

Hi Bibbidibbo, I'm sorry you didn't have a good 12 weeks scan and that you're going through this too. I don't understand why would they say there is no hope before further diagnostic tests? What was your NT? Have they found anything else on the scan? Don't loose hope. There is plenty of tests and additional scans. I had CVS and initial clear results. Now waiting for heart scan at 16 weeks.
Chin up and push for more info. Wishing you get good results too x

Hi AshiSaeed. I'm sorry you find yourself in similar situation. It is so hard and heartbreaking to go through this.
I didn't opt for NIPT. I was advised against it at the hospital. Instead I went for CVS. NIPT is only a screening test so it will not give you a definite diagnose. CVS is diagnostic tests and tests for greater chromosomal abnormalities than NIPT. My NT was a lot above the norm, not only slightly, if it was much lower, I would have consider NIPT and then see what results are and consider what next. But because my NT was so high, I wanted an answer. Don't loose hope, because despite my high risk for Down Syndrome (1in21) my baby has no Down Syndrome. My initial CVS results are clear: no DS, Edwards, Patau, Turner or any other sex chromosomal abnormality. Now waiting for full results and heart scan.
What was your NT?
Wishing you get good results too. Good luck x

Thank you for the reply @Babs86
So glad things have taken a positive turn in your case. I will keep everything crossed for you.

I actually had the nipt at 11 weeks and the results were excellent- very low risk for everything. So the scan was a big surprise.
The NT thickness came back just above 5 but wasn’t just contained to the neck. It travelled the whole way down the back which is why they say there is no hope. That much extra fluid will eventually override the babies system. Do you know if your baby had fluid ok n the back too

Gosh @Bibbidiboo, it must have been a shock for you after having such good NIPT results, must have felt like your world is crushing down at you. I'm so sorry you're going through this.

NT does go to baby's middle back. When it is low, it's not so much obvious, but when NT is thickened it is more visible to be at the back too. When the fluid goes around baby's head and sometimes when they find fluid around belly too, that is the reason to be concerned. If they're concerned about fluid have they mentioned to you cystic fibrosis? Did they go through with you of other possible reasons for high NT? Have they offered diagnostic tests to you? CVS and Amnio test for more chromosomal conditions than NIPT. Thickened NT could also mean a problem with baby's heart. Or sometimes it means nothing. So don't loose hope. Push for more tests and scans. I hope you get some good results soon x

Thank you so much for your replies @Babs86, obviously I hate that you are going through this too, but it is so helpful to discuss this with someone else who is just that little bit ahead. My results are very similar to yours in that I have off the charts low hcg (0.08) but good pappA

I was told there is no point doing the CVS because it is similar to the Nipt in that it’s through the placenta. I was offered an amnio, then was told there really isn’t any point because the baby would be gone by the time the results come back.

But my ob rang again today, with more information from the scan place. They said the heart looked pretty good so are thinking it might be kidneys or micro chromosomal issue. When I said I wanted to wait it out, the amnio is back in the cards again.
It’s all so much to digest.
No mention of cystic fibrosis. The fluid went down the back and the pelvis, but not on the head or stomach

I am so sorry you're going through this I went through similar last year and we ended up TFMR at 17 weeks sadly.
I had a similar experience. Went for NIPT at 10 weeks and the NT measured 4.3. An agonising 2 week wait for 12 week scan, where the NT had not changed. NHS screening had me at 1:5 for DS but we knew it likely wasn't that (low risk harmony test). Detailed CVS eventually showed a very rare syndrome causing heart issues, but it could easily have been a more fixable heart problem. I was in two minds for ages about whether to have the CVS because the doctors said it probably wouldn't show anything. They were really shocked when it did.
This time you are in now is absolute agony and I'm so sorry you're going through this. Things didn't work out so well for me but sometimes in your situation it really is ok. I think you've done absolutely the right thing in getting a CVS. Hang in there xxx

Hi @Bibbidiboo. Your scan picture doesn't look different to mine. Your baby is beautiful. I'm sorry you didn't get to speak to someone more empathetic. Can't believe someone would say baby would be gone, before getting any results. After my 12 weeks scan I spoke to a lovely midwife. She said she recently had a patient with NT 9mm and she ended up having a completely healthy baby. So don't give up your hope.

Are you in US? I'm in UK. Perhaps things are a little different. Here CVS is as much useful diagnostic test as Amnio. And because Amnio can be done from 15 weeks I decided not to wait and have CVS at 13 weeks and get the results faster. I couldn't bear to wait and stress for longer. Also at 12 weeks baby's heart is the size of half of our fingernail so way to small to examine. Even at 13 weeks at Fetal Medicine Unit, where we were referred after high NT, they could only check the blood flow in the heart, and not heart itself, because it was still too small. Detailed heart scan can be done from 16 weeks. But great that they said things look good otherwise. Have they found anything else worrying? I encourage you to do the Amnio and get some answers.

Also I too find it comforting to speak to someone and not feel completely alone in this. Feel free to pm me anytime. I'll keep you updated. Hope we both get positive results x

Hi @GoingGently. Thank you for sharing your story. I am so sorry you didn't have a positive result and the pregnancy ended up TFMR :(

I'm surprised your doctor said CVS would not show anything. Our consultant at FMU said we are in high risk of chromosomal abnormalities due to thickened NT and that's way he strongly encouraged CVS with microarray. Would you be willing to share which rare syndrome did they find? Could the heart problem not be treated? I'm sorry if I come across to strong, I don't want to intrude, I understand if it's too difficult to speak about. I'm asking because I'm reading about possible chromosomal conditions to be mentally prepared in case bad results :(

I hope you were able to find help and support and that you are doing well? Sending love x

I'll message you privately if that's OK?

Thank you @GoingGently x

@Babs86 wow that is amazing that someone had 9mm and still everything turned out ok. I was not given any hope and before coming on here I didn’t even know there was success stories. I’m worried they are giving me a false sense of hope - but I do really need it right now.

When the nt was thick I asked the consultant about the nasal bone. She said that it was present but not fully formed but that was neither here or there at this gestation. The second dr I spoke to seemed more put off by this fact. So I don’t really know what to make of it.

I contacted the ultrasound place today and asked for them to send me a copy of the final report. It says the nasal bone is present but currently hypoplastic - I tried to research that but couldn’t find any data, everything at 12/13 weeks just mentions present or absent. So I’m thinking it’s not a good sign but not necessarily terrible either. Just growing?
The report also mentions bilateral cystic hygromas, in relation to the NT. Which was not mentioned to me at all.
Everything else measured up really well, including limbs, bladder, cranium, profile, stomach etc.
Interestingly the report does say “ the anatomy of the heart was not well defined today due to fetal posture but is probably normal” which I find such an odd conclusion!!

I see the dr next week and will be discussing an amnio then. I’m in Australia and it definitely seems to be preferred to CVS (Atleast if you have already had NIPT screening). But I definitely see the advantage of testing earlier- the limbo is unbearable. I actually think he half expected me to come back the next day wanting to end the pregnancy straight away. I just couldn’t do that off an opinion- hence the amnio is now back on the cards…

How was the rest of your scan results ? Any mention of cystic hygromas?

@Bibbidiboo there are many positive stories out there, but equally so many negatives too. As much as I believe it's important to hear both sides, I needed the positive ones to keep me sane whilst waiting for results: my stress levels were so high, it was killing me. Here are some threads I followed that gave me some hope and may give you some too:

community.babycenter.com/post/a74322164/6.5mm-healthy-baby-girl

www.mumsnet.com/Talk/antenatal_tests_choices/4192069-nuchal-translucency-result-6mm

www.mumsnet.com/Talk/antenatal_tests_choices/3444479-NT-count-of-6mm-Also-mentioned-cysts-Scared-and-confused

At my 12 weeks scan sonographer told us she can see a nose bone but not prominent. That has totally freaked us out. We then got screening results with high chance of Down Syndrome. So this was our initial worry, that our baby has DS. I got the full results soon after showing normal: low HCG and high PAPP-A levels (the opposite results: low PAPP-A and high HCG indicate DS or other chromosomal conditions). After that, at detailed scan at Fetal Medicine Unit, the doctor said there is nose bone present and no other DS markers could be found. So he said Down Syndrome is most probably not the case here. We've got clear initial CVS results a week later: no Down S., Patau, Edwards, Turner Syndrome or any other sex chromosomal abnormalities. But we are now worried for the full results: there could be something wrong with any other chromosome or genes and it scares me a lot! I now worry there is rare chromosomal disorder, something with much worse outcome than DS. At this point I had to stop googling because it gave me even more anxiety. I'm only few days away from my full results. I'm getting more stressed now that is is getting closer!! The waiting is agonising.

Anatomically there was nothing else wrong, the baby looked perfectly fine: brain, skull, abdomen, stomach, hands and feet, blood flow. Baby is also moving so much every time we have a scan. It is heartbreaking to even think of TFMR when I see my baby moving so lively :( There was no mention of cystic hygroma in our case. But this is what I found on the Internet: If your baby has normal chromosomes and the cystic hygroma disappears by 20 weeks of pregnancy, the outcome will probably be good. If the cystic hygroma does not resolve by 20 weeks, the chance of a healthy outcome decreases to two to nine percent. So everything comes down to chromosomal abnormalities. Search CVS microarray. This is what our doctor opted for us and it shows full chromosomal conditions, same as Amnio. Perhaps microarray is not funded in Australia, hence it's comparable to NIPT and Amnio is the only full diagnostic test? How far along are you? Hopefully you can do Amnio as soon as possible and get your results x

@Babs86 thank you for those links. I feel like my mind is more than capable of imagining the worse outcomes but for some reason I need to see ‘proof’ that it can be positive. And I need that hope just to get through the day.

That is interesting what they said about the nasal bone and blood work! I have been so worried by the combination of the high nt with the “present but not fully formed nasal bone”. My hcg is is low low - which I am worried will mean something worse.

I am currently 13 1/2 weeks so another 1 1/2 - 2 weeks before I can do the amnio. I will be sure to ask for full array.

The thought of TFMR is just more than I can bear. The ultrasound was just so much more detailed then I expected - we could literally see the baby opening their mouth, sticking out their tongue and drinking. Everything else on the scan was just perfect and developing normally.

I’m keeping everything crossed for you and your results in a few days. How far along are you? How are you handling telling/not telling people about the baby?