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 :(

@Babs86 I had one with my daughter but I think it was later on than 20 weeks. (She was breech so we had some third trimester scans). I didn’t realise they could pick up things others couldn’t. I’ll be sure to ask if I ever get that far.

The first week of waiting for the amnio results was ok but now it’s in the second each day seems to drag

When is your 20 week scan?

Hello everyone - I have just read this thread after finding myself in a similar situation.

I am 26 years old and found out 2 days ago that my baby has a 1:25 chance of Down’s syndrome. My PAPP-A low, my HCG apparently okay but the NT was 3.3. Although the NT isn’t the highest it could be my blood work must have been bad enough to give me the 1:25 chance.
My baby is of mixed heritage - my partner is white/Afro Caribbean so unsure whether this makes a difference.
I am obviously in complete shock and wish my situation was different but hoping for a false positive result. I have a NIPT test booked for next week but I would also want an amniocentesis as aware it’s just for screening purposes.

Sending my love and support to anyone going through the same thing. ❤️

Hi @Bibbidiboo. Good to hear from you, I was getting worried. So no rapid results? Just like your doctor said... Hm I really don't understand this, NIPT is only a screening test so confirmation from diagnostic test is a must. At least that's what being said here in UK. Plus it would have cut your waiting time and bring some positivity to your life. Sorry you have to wait this long! but your full results can come any day now 🤞

I began to seriously worry about Noonans Syndrome. Appearantly there can be no fetus abnornalities apart from thickened NT and polyhydramnios. I had polyhydramnios in my first pregnancy at the end, but all was well and baby was healthy. I am showing a lot now and feel quite big for 18 weeks (19 weeks tomorrow) and worry I could have too much amniotic fluid. I can't remember when do midwives begin to measure the size of a belly... But I am going to freak out if I develop polyhydramnios in this pregnancy, together with thick NT earlier, this could mean Noonans, or other, and I won't know until the baby is born. Sorry for the panic post!
My 20 week scan is on Monday 16th, less than two weeks, feels like forever waiting again though. Then on Friday same week another cardiac scan 🤞

@Babs86 sorry I didn’t mean to go MIA!
Just going crazy with the waiting. I thought waiting for the amnio was bad, I didn’t realise that waiting for the results would be worse. And then as you said the wait for the 20 week scan 🙈🙈🙈

Sorry to hear you are so stressed about noonans, if you continue to feel worried definitely push for them to test for it. If Australia can, the uk can - it’s just not offered as standard. If it makes you feel any better my fetal medicine dr was very adamant that it does normally present with heart Symptoms . But from memory it was shortly after the 20 week scan that they started measuring my tummy. But the ultrasound measures the amniotic fluid too ( I think more accurately) - I am completely that person who asked them to email the report and it mentioned the amount of amniotic fluid was normal.

They still will test for downs, edwards and patuea as part of the microarray just not quickly. But I do feel that the quick results would have helped with the wait

@Bwin020 sorry you’re going through this uncertainty too.
I know this won’t make you feel any better but my understanding is that the combined screening casts a very wide net and there is a large percentage of false high risks

Thank you for your reply - hope you are ok and your wait hasn’t made you feel too bad xx

My amnio came back clear!!!
I’m so happy it’s like a massive weight has just been lifted off my shoulders !! I’m so glad the came in before the weekend.
Now 2 1/2 weeks till the 20 week scan 🤞🤞🤞

OMG @Bibbidiboo I only just saw your message! Congrats! So happy for you and your baby! ❤️ You can finally enjoy your pregnancy 😊❤️ Lets keep in touch, when is your due date? Fingers crossed for your 20 weeks scan. Mine is this Monday. Lots of love xx

@Babs86 yes it’s just so amazing and we found out we are having a baby boy. My husband and I had a private little gender reveal and it was just what I needed. It was the first time we in ages we could just be excited and made the whole thing seem so much more real.

Are you finding out what you are having? Goodluck tomorrow!!! Hopefully it will be the last check on the list after this whole ordeal.

I’m due on the 12th Jan - you?

@Bibbidiboo aw congratulations on having a boy 🥳💙 We're also expecting a boy ☺️ We found out when the CVS rapid results were revelead to us - they can tell baby's sex chromosome as they detect all chromosomes. Of course their asked us first if we wanted to know and we did, at least we didn't have to pay for a private scan lol☺️ I'm surprised they hadn't told you when you had your results?
Thanks! We're going for a 20 week scan tomorrow and then another final fetal cardiac scan on Friday together with another 20 week anomaly scan (I'll be 21 weeks by then) - two different hospitals. A bit confusing to me why 2x 20 weeks scan, it seems these two hospitals don't have a very good communication. But hey, another time when I can have a look at my baby 🥰
My due date is 30th December. I'll be spending the NYE at the hospital most probably lol

When's your 20 week scan? xx

@Babs86 how did you go today? Was the fluid still there what did they say?
Keeping everything crossed - I kind of see the 20week scan as the final check point (although I’m sure there will be more - it’s never ending)
It’s exciting you get three!! Bubs must be very photogenic!

We didn’t do another scan for the gender. Technically we could have found after the nipt but we had them email it off instead. Then after the clear amnio we popped a confetti cannon. With blue confetti- all the things that would get as thrown over the hot coals on Mums net. But was just what we needed this pregnancy!!
The amnio results officially arrived in the mail the day after so we were able to double check - so officially a boy!!

Haha New Year’s Eve in hospital! I hope you get a room with a view

Hi @Bibbidiboo my 20 week scan went well, no concerns 😊🥰 All the measurements are right in the middle. NF was only 1.9mm (the limit at 20 weeks is 6mm) so way under the limit even for 12 week scan. It shrank and noone knows why it was so high before. Sonographer was happy with his heart structure, but we'll have another detailed fetal cardiac scan at another hospital, but I'm sure it will confirm the previous one. After this I'll be discharged and no more scans, hopefully 🤞 I'm so glad we're both the lucky ones to have such good outcomes ❤️ Have you got the name for your baby boy yet?😊xx

@Babs86
That is so amazing!! Your nt is so low now!! How did your other scans go?
My 20 week scan went well too - I can’t help but feel we are both so lucky! The nuchal fold was still 4.9 but all the other fluid was gone and they said 5mm is normal for 20 weeks, so aren’t concerned at all about it. It just a complete 180’ - these boys have a lot to answer for!
They recommend another scan at 28’weeks but said they aren’t concerned just a follow up

Thanks @Bibbidiboo
The NF was higher again on Friday so I left feeling deflated, but the obstetrician who specialises in fetal abnormalities said it means nothing, because all the chromosomal tests came negative and there are no structural abnornalities within the baby, so he said he is expecting positive outcome and will discharge us from the hospital. Fetal cardiac scan went well too - no concerns at all. Nonetheless it left me feeling less positive than after my first 20 week scan and came back home googling high nuchal fold again. I couldn't understand why was it so low on Monday and then thick again on Friday. I found that if it changes, then it is usually caused by baby's position and it really means nothing. However I don't think I will ever stop worrying about this baby! I also found out he's a big boy, just like my first born. They suspect GD and I have glucose test booked for Ssptember with a midwife, but I checked it at my mum's as she has diabetes and I'm fine. So I think it's going to be a big boy... again. I'm telling you the labour with my first one was no fun, he weighted almost 4.5 kg! I tell myself though that he is a big and strong boy and that is good, I would of been much more worried if he was measuring smaller. His kicks can be so strong now, especially right in my ribs lol.

So glad your 20 week scan went well!! You can leave all your worries behind now ♥️

Hi @Babs86 I’ve been following this thread as I’ve been in a similar situation recently (high NT 3.3mm but low risk NIPT result) what was your 16 week scan like

Hi @HopefulRose. I'm sorry you're going through this. 3.3mm is not that much over the limit. With low NIPT risk you're having high chances for a healthy baby. Have you decided on any diagnostic tests yet? My 16 weeks scan looked a lot like a normal 20 weeks anomaly scan. The sonographer did all the checks she would at 20 weeks. She also looked in details at baby's heart. I later had fetal cardiac scan at different hospital too. Where are you located?

@Babs86 hello thanks so much for replying. That’s useful to know. Our 16 week scan is with a consultant, thinking I might ring the midwife for clarity over what it’s about (but anxious that they are probably sick of hearing from me ) .. I’m based in the south how about you?

Hi, I’ve just had a result back but only for the blood test as I was too far gone for them to see through the scan and it’s come back as 1 in 100 and debating the NIPT tests, can I ask what they was like? And if there a chance because I only had my bloods done and not the screening that it’s inaccurate? Just looking for any reassurance at this point

12 weeks syndrome screening

Hi Everyone, I just got my 12 weeks screening results today and I am very concerned. I am currently 34 but will be 35 at my due date.
The risk of having a baby with Down is 1:530.
What is actually mostly worrying me is the high hCG level at 3.79 MoM (PAPP-A level is at 0.99 MoM and NI is at 1.40mm - both normal I think?).
I have booked a private NIPT appointment for later this week, however I am worried about the high hCG levels. Surely, I will discuss with the midwife but I was hoping to hear thoughts and opinions from people with similar issues and how their pregnancy is/was going? Or everyone really who has some information on this.
What could be a potential trigger for such high levels?

Thanks in advance for your comments xxx