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 :(

Hi @Babs86
I just wanted to check in with you, please know you are in my thoughts xo

Hi @Bibbidiboo, I'm sorry I haven't replied to you earlier. My toddler keeps me on my toes for the last couple of days! Just wanting me all the time. Thank you for your care. I'm alright, patiently waiting for my results and biting my nails. The hospital where I undergone the procedure is not my usual hospital. Everytime my midwife from my local hospital had to chase them up to call me so I'm guessing it will be the case this time too and I'm going to get my results late :/ I will be 16 weeks on Thursday when I'll have a first heart scan. I am showing a lot which makes it difficult to hide my pregnancy. 'Luckily' I live far from my family and friends and very few people know. I just don't want to tell anyone about my pregnancy yet, not knowing what the outcome will be :( Some strangers noticed it though already. It's so hard.

You had you NIPT results. I don't think you have to worry about Down Syndrome or any of common chromosomal abnormalities that NIPT detects. It is quite reliable test, however only screening but very reliable. Nasal bone is present and that's what matters. Like someone on here said, in case of high NT there are three options: 1) Chromosomal abnormalities 2) Heart defect 3) Healthy baby. When they eliminate common and rare chromosomal defects, you'll have heart scans and anomaly scans. Hopefully, both of us, will get positive results ❤️

How have you been the last couple of days? x

@Babs86 don’t be ridiculous you don’t need to apologise! I just assumed your results came and was worried. Without sounding stalkerish I feel very invested in your little one too. Hopefully them not getting back to you is a case of good news not getting prioritised.

Glad your little one is keeping you busy.
I’m definitely showing too, in some ways I regret not telling a few more people earlier - having to tell them now is the worst.
Thank you for spelling out all the options
I don’t understand why my dr was so pessimistic. Yes I know it’s risky but the more I read it not instantly a death sentence.

Is the heart scan an ultrasound?

Hi @Bibbidiboo. I had my 16 week scan and all is good. The sonographer did all the anomaly checks at 20 weeks scan: femur, head, abdomen, spine - all the measurements are in norm. She scanned baby's heart and it looks healthy too. NF is just slightly lower. Sonographer also said no news is good news in regards to no results of CVS yet. I hope this is true.
I don't consider you as a stalker lol. I knew you care. I just totally felt guilty, because I know how important it is to keep in touch with someone who is going through the same. I'm here for you if you need to talk ❤️
I get what you mean. I have no idea what I'm going to tell people about my pregnancy. I will be halfway through 🙈 xx

That is wonderful news @Babs86!! From what I have read the threshold for nt gets bigger as the baby does so you might soon be coming in the normal range.

I saw my ob today. He did a small scan in his office and baby is still growing correctly and the heart rate is good. He thought the fluid may look worse, but it is impossible to say on his small machine. What concerned me was that the baby was hardly moving (has always been so active on other scans), which made it look really sick. The dr didn’t seem to concerned by that so I’m hoping it was just afternoon nap time (it was only a 5minute scan).
I am booked in for an amnio next Tuesday so will hopefully get to see bub on the screen then too and will have some answers by the end of the week 🤞

You are right @Bibbidiboo it grows with a baby. I know for 20 weeks the norm is up to 6mm, my sonographer wasn't sure for the norm for 16 week, but someone on another community said the norm for 16-18 weeks is in fact 6mm. Either way as long as it is not growing, we're getting closer to the norm.
I'm sorry your scan today gave you more worries. 5 mins is definitely too short to tell about the movement. They get these naps and rest in between so it must have just been that. But I totally understand you! I would be worried too. I get worried about every little thing with this baby. Until you start feeling baby's kicks, your mind will always wonder. My baby was moving increadible a lot at 12 weeks scan to the point the sonographer couldn't get the measurements. Even my first one (a healthy boy) did not move this much at scans. I mean this little one was doing 360 degree flips and turns. I've never seen a baby doing this 🙂 So I came thinking rather positive, surely sick baby wouldn't move this much? But then my next two scans baby was moving in rather normal range. Stretching and some arm movements. Normal. But even that gave a worry, he was moving more at 12 weeks, shy isn't he now? I know I'm just a little paranoid. We mums never stop worrying for our babies.
They will scan your baby in preparation for Amnio for much longer time and will do a much in depth anomaly scan ay this gestational age. You'll see tour baby for longer and hopefully you'll put that worry behind you. Tuesday is only few days away. And I find weekends in between the wait help to get the time go past faster. So just a blink of an eye. Tuesday is the day I'm supposed to get my full result. Big day for both of us xx

@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 :(

If baby is black / south asian / middle eastern or mixed race a high NT by itself wouldn’t be a risk factor; which would explain the results. Do any of those apply? If so you probably should get a rescan

@Babs86 thank you, you were right the weekend definitely made the wait feel less. (Although still stressful). I hope they do a detailed scan tomorrow while they do it. I’m glad you told me that - it’s the one thing that makes me dread it a little less.

I have started feeling some kicks but they are very sporadic - so nice when they occur, but definitely not enough to help tame the anxiety.

I’m keeping everything crossed for both of us tomorrow. I hope your results come nice and early and you don’t need to wait around all day

Omg @Bibbidiboo I started experiencing baby's first kicks too! Couple of days ago, exactly 16w1d. I was over the moon! It was the day after my scan, the one that went so well, so feeling baby kicking for the first time made me feel so positive. With my first pregnancy I felt first kicks at 20 weeks, so much later than now. I read that with second pregnancy I could feel them earlier, but it was still such a nice surprise. But like yours, mine are so sporadic that it actually gives me more anxiety! I sometimes have to wait all day to feel a baby kick. I am aware that at this stage the baby is still very small and have lots of room to wriggle there. And I know it's way to early to count the kicks. But I would definitely feel more at ease if the kicks were more regular. With my first one at 20 weeks the kicks were very regular and quickly becoming stronger too. And I could not mistake them wind something else going in my tummy LOL. Now I am sometimes not sure, if it was a kick or not? I happen to read a few stories of women that had high NT at 12 weeks scan and how 'nature took it's course' and baby passed away before getting any tests/results due to underlying issue. So I'm just a little anxious this can happen to me too, when his heart just stop. I don't think I will ever stop worrying about this baby!
Wishing you all the good luck tomorrow! Hope the scan goes well and Amnio is painless and quick. Try to rest a lot after x

Hi @Babs86,

Ohh that horrible for those women - did they have any other symptoms?

Haha sometimes the movements make me question and sometimes they are so clear.

No amnio today unfortunately - because I was exactly 15 weeks the dr wasn’t comfortable doing it so I need to go back next week. (A whole extra week waiting!!). But they did a scan and the fluid had gone down slightly and everything is measuring perfectly and the nasal bone is fully visible. So I know it’s still early but that is the first positive news I have had in weeks.

Did you manage to get your results? 🤞

Oh no @Bibbidiboo I'm sorry you have to wait another week for the test. The waiting makes it all so much more difficult, when we can't have the answers right away. I'm glad you had some positive news from the scan and that the baby is measuring perfectly. It's reassuring at this stage.

I'm not sure about those other women, they didn't say but I'm guessing either their miscarriage happened or they found out at following scans.

I'm on Babycentre community and I chat to these woman with similar stories, we all happen to have first clear initial results from tests and no anomalies at scans. So I hope we all get to have a happy ending 🤞 as there certainly are good stories out there ❤️

I haven't had a call with results today and decided not to chase them, after my last week's unpleasant phone conversation with them. But I will be there tomorrow for baby's cardiac scan so I will (hopefully) find out then.

@Babs86 how did your heart scan go?

That’s good that you found the group. When it first happened I try searching baby centre but couldn’t get it to work.

I think it’s much more common than even the statistics suggest, because termenation is so pushed they don’t know how many babies would survive.

Hi @Bibbidiboo, my heart scan went really well. The heart looks normal and healthy. A consultant specialist in fetal heart scanned the baby this time, so I think we're on the safe side. He just couldn't see one artery, because the heart was still too small, so we'll be back for another fetal cardiac scan at 20 weeks.
My CVS sample needs to be retested as the cells didn't grow enough and will get my results by the end of next week. One more week of waiting and 4 weeks waiting in total 😭 I cried when I found out 😭 My whole life is on hold because of this. The hospital didn't even warn about such possibility. They just said by 17 weeks we'll know everything. Some women I'm in touch got their full results yet even though they did their test later than me. I'm of course happy for them as they had clear results (three of them! ☺️). But feels so unfair I have to wait. How are you doing? X

My baby had 4mm and 1 in 5 Down's syndrome risk.

She's perfect. Absolutely no signs of anything wrong with her.

@Babs86 that is so so so frustrating!!
Did you have to redo the cvs or did they have enough left to re test? And if they had enough left to retest why didn’t they start earlier?
I completely understand the limbo, this is my whole life at the moment and I’m really struggling with the fact that I don’t know if I will still be pregnant in a month or two - let alone if I should be preparing for another baby…

I have the amnio tomorrow.

Thank you for sharing@cornflakelife it is so nice /reassuring to hear positive stories

@Bibbidiboo Luckily I didn't have to redo the CVS. They had enough to start the process again. They may have started it earlier than I found out. The hospital didn't enquiry it early enough. When I phoned after 2 weeks, they said 3 weeks. But I wasn't convinced, as all the information out there and from other preggo mums I've read and heard was 2 weeks for full results. I feel I will need to chase them up this week too 😬 But this time I'll leave it to my local midwife - she is more powerful to get through and demand some answers. She's sooo good. She also gave me a detailed explanation what happens to the sample when it goes through genetic testing. It answered all my questions and doubts, eg how did they obtain first results if they claim they haven't grow those cells to get final results. I can forward it to you if you want? It must be the same with Amnio because it's about genetic testing in general.
Good luck today!!! I hope it goes well and quick for you and you feel no pain afterwards. Get lots of rest ❤️

Thank you @cornflakelife. It's so reassuring to read positive stories. So glad your little one is healthy. How old is she? Did you do any genetic tests? X

@Bibbidiboo I received my full array results and all is clear 😊🥰 I can describe how happy I am. I hope your amnio went well today xx

@Babs86 that is amazing!! Fantastic news! I am so so so happy for you!! Such a relief (and a nice surly they were faster than they said)
What are your next steps now? Just further heart and growth ultrasound or will you do further genetic testing?

I guess my amnio went as well as they things can go. They said bub was very well behaved and moved right away from the needle and stayed very still till it was over - then started moving again. If you could please send me that information that would we be great. My fetal medicine specialist didn’t put me down for the fast results because she is fairly confident it’s not any of the 3 big chromosomal conditions. (I am sort of hoping that lab just does it out of habit - to break up the wait). And it will be 7-10 working days for the full microarray (but to expect the full 10 because apparently it’s harder to do when hcg is low like in my case.) We decided that if the amnio is clear we won’t do any further testing for genetic conditions. Because she estimates that in my case there is about a 4% chance it is that and there are 100s of conditions it could be. But because there is no family history or other symptoms it would just be fishing in the dark. So the next thing I would have would be the 19 week scan in 3 weeks.
The scan looked good yesterday - they were happy with the heart. Like you there was one artery they couldn’t quite confirm because of the babies position but they think they saw it, just can’t tick that box yet

Nice surprise *^

@Bibbidiboo I'm so glad your Amnio went well yesterday and that baby seems well and that they don't have any concerns. That is a very good sign. You seem to follow the same pattern as me and some other ladies from the other thread, who also just received clear chromosomal results. I very much believe you'll be the lucky one too ❤️
Thank you! We're so happy and so relieved. Feels like a huge weight has been oifted off our shoulders. And we can finally enjoy the pregnancy (and buy first newborn outfit 🥰). There isn't any more genetic test they offer here in UK. Microarray is as detailed as they could do. Are there any more genetic tests you know about, that they offer in Australia? For us the next step is normal 20 week anomaly scan and another fetal cardiac scan also at 20 weeks. If all is well I'll be discharged from FMU and pregnancy will be treated as normal from then. That is similar to the other ladies from UK that went through the same. I'm very interested to learn how things are where you live. I'm still worried there could be a rare genetical syndrome that microarray did not detect, but there is nothing else they can dk past microarray, so I'm finding comfort in the fact that there are no anomalies in the scan (surely they would have found something if there in fact was a serious genetic syndrome).

How are you feeling? Can you feel your baby moving more now? Mine has become so active I can even do 10 kicks counting 🥰

Hooe you rest a lot and the waiting goes well for you 🤞❤️

I'm forwarding an email from my midwife. Hope you find it useful:

What happens is the lab do a test called a QFPCR – this is a rapid test that uses a technique where small sections (markers) of DNA from the sample are amplified, labelled with fluorescent tags and the amounts measured by electrophoresis, this is an type of analysing system this type of testing is great because its quick but at the moment can only give results for T21,13 and 18 and sex chromosomes. The sample is then sent to be separated in to several samples on small sample slides and then these samples grow over several weeks in a warming cupboard.

After 2 weeks the samples are checked daily to see if there are enough cells to look at all of the chromosomes. This slides sometimes grow slowly and it can take longer to have a suitable sample.

Very occasionally the lab can’t get a result out of any of the samples. This could be because the original sample was small of the cells didn’t grow enough. This can happen if the chromosomes are completely normal or if they are abnormal, so please don’t think this is because there is a problem it is just a frustrating part of genetic testing.

Thanks for the info @Babs86. So straight forward!

I’m really hoping you are right and the amnio comes back clear. Bubs is moving more now and the movements seem more defined, but not up to counting yet.

With the genetic testing, I think for most they would use the amnio fluid. But they said it’s much harder to do than checking the chromosomes, which are large (who knew 😝) as they are looking for slight markers or patterns in the DNA. So they really need to know exactly which condition to check for. So they had us try to find out if there were any genetic conditions in our families, even generations back as it can skip. I had specifically asked about noonans (because it seemed more common than others) and she said that normally there would be specific heart defects that indicate it might be that, so I think you are right that some other symptoms would start to show on the ultrasound. So because we don’t have a family history and there are no markers they won’t test for any because it’s like searching in the dark.

I also did a blood test to see if I had had an infection while pregnant which can cause the increased nt and possible anemia in the baby(cmv, taxoplasnosis or parvovirus) which came back clear.

I didn’t happen what would happen after the 19weeks scan. But I kind of got the impression that if the amnio is clear and the scan goes well that the outcome looks positive. But I imagine they will do a few extra growth scans than normal just to monitor things

I didn’t ask *^

@Bibbidiboo glad to be of help with this one. I thought the midwife did well explaining the process, I was kind of a pain in the @ss asking so many questions 😜
Ah thanks for the explanation. I get what you mean now regarding further genetic testing. I believe it is after the baby is born, when baby presents specific symptoms that they begin to look for the faulty gene and it takes a long time. But luckily our babas don't show any markers on a scan so the chances are quite low🤞 I'm going to ask next time I'm at hospital about 3D and 4D scans, as they can provide information about facial abnornalities in some rare genetic syndromes such as Noonans (which I came across when searching for the info and was and still is my worry too). But I doubt they provide them on NHS here in the UK. So I'm thinking to go private. Do they do them in AU?