High risk screening - Normal NT but high hCG, Low PAPP-A

[SoozyWoozy]

Hello everyone,
I'm new to this board, so apologies if I'm posting in the wrong place!

I'm 13w pregnant with my 4th baby (6th pregnancy, first two were ectopic & mc). My other pregnancies went without a hitch, other than the dreaded SPD.

With the other 3 I just had a Nuchal as screening, and all were very low risk. My hospital now does combined screening so this time I had bloods done as well. My scan was apparently OK and the Nuchal measurement was within normal range but my bloods made me high risk with a 1:78 chance of a baby with Downs / other Trisomies. My BhCG was double what it should be and my PAPP-A was half, apparently can be an indication of trisomies, but even with no chromosome problems this can lead to other problems in pregnancy such as IUGR, preeclampsia to mention just a couple!

I guess what I would like to know is this - has anyone been in a similar situation and come out the other side?! I have an amnio booked for 16w, but the waiting is driving me crazy and giving me too much time to think about the what ifs and if I am doing the right thing having the amnio at all!

Any words of wisdom would be gratefully received.

Suzy

@JaiPow ❤❤ I hope your waiting passes quickly

Fantastic, I'm so pleased for you. Have a happy and healthy pregnancy.

[quote JaiPow]@i3ubble thanks for your post. My numbers are similar and I’m really hoping for the same outcome. The waiting is so overwhelming.

@WaitingWaiting1 so thrilled for your NIPT results.

@Mummy825 thank you so much for your prayers 💕[/quote]
Yes, I felt like 1 in 7 was really high and my bloods numbers seemed so far from the 1 expected average, but all was fine and I really hope you will find the same.

@i3ubble @WaitingWaiting1 @Mummy825

NIPT and amnio normal! 🙌🏻🙌🏻🙌🏻🙌🏻

Happy Friday!

Thanks for being a safe place for me to share

[quote JaiPow]**@i3ubble* @WaitingWaiting1* @Mummy825

NIPT and amnio normal! 🙌🏻🙌🏻🙌🏻🙌🏻

Happy Friday![/quote]
I'm so happy for you! Congratulations, enjoy the rest of your pregnancy.

@JaiPow that is really wonderful news xx

@JaiPow
Ooh, I'm so happy for you, congratulations.
Enjoy the rest of your pregnancy xx

I’m currently waiting for my CVS tomorrow after receiving the shocking phone call yesterday telling me in 1/10 for Down’s. After googling like mad, this thread has helped me immensely. That said, I’m still terrified and spent all day yesterday crying and had a completely restless night. If anyone can give some comfort, my results were:

Age: 38
NT: 2.50mm (normal)
bHCG: 5.21 MoM
PAPP-A: 0.67 MoM (was told this was also normal)
There was nothing said about the nasal bone (?), but my chart said “Cranial: normal U/S appearance”

I’ve never felt more scared and there’s nothing I can do but wait. This is our first and I had a miscarriage in February.

@CanuckinLondon
The wait is so painful. I didnt stop researching about the markers and genuinely even now I still think about it and look out for soft markers. The thing that helped me most was watching people's real stories about having a child with downs syndrome. Like us their first reaction was fear but I have not seen one where they are unbelievably happy. It is scary though. I had a nipt done and it came back as 1 in 100,000 and still when I had my 22 week scan and baby's femur came back lower than 10th percentile I began to worry again. But just watching a few more happy families helped set my mind straight.

Anyway your results really don't seem too far from mine.
Hcg- 3.2
Pappa- 0.7
NT - 2.7
I'd be a hypocrite to say dont worry. Its completely normal when possibly entering the unknown. But just try your best to stay calm and do whatever makes you feel a bit better.
Also you may be able to see the nose bone on the scan picture yourself. Bones are extremely white.

Thank you - really appreciate the response. And I do see a very clear white line in the scan!

@CanuckinLondon - if Canuck means Canadian, me too! Ontario :)

Sorry to hear you’re experiencing this. I too had a high chance, 1:4. I’m 6 weeks out from the initial scare and although I had an amnio and know 100% baby is normal chromosomally, I’m still a bit disconnected from my pregnancy.

This is just a screen with the goal of finding most parents of DS children to give them a choice and prepare them for it parenthood. Unfortunately, this also means that many of us are caught in the cross waves of this stress and anxiety.

They use the markers you noted, other growth factors with baby, age, history, smoker status and the computer pops out a likelihood of T21,T18, T13.

All you can do is wait at this point. Think about what you would want to do if it comes back positive as that’s something in your control. Everything else is not. I found keeping myself busy with work etc really helped distract my mind.

Thinking of you through this process.

@JaiPow - thanks very much for your message :). We met with the OB, who scanned me again and said everything looks all good and healthy. She was pretty confident the risk calculation was primarily attributed to my age. She noted the bHCG was slightly elevated but apparently nothing to be concerned about (at this stage) also nothing my other hormone level was normal. Because of this she recommended the Harmony test over CVS. While we’re not waiting for a little longer for complete answers, we’re far less anxious.

And yes - Canadian in London ;)

hello

42yo and 12+4weeks. had the dreaded call yesterday that i have a 1:26 chance of DS. I am so upset and can't stop googling what it means. We went into hospital today as i was offered the Harmony test on the NHS (I was going to get the Panorama test anyway) so expect the results in 5-10 working days.

My results were:

Age: 43
NT: 1.5mm
Pappa 0.56 MoM
HCG 2.98 MoM

The midwife said that the Pappa was above 0.4 so it was fine, but the HCG was a bit high. I can't find out what that means really other than it's added to the risk profile.

any words of encouragement appreciated, it's going to be a long few weeks.

@bunnypenny Sorry to hear of the added stress you have on your pregnancy.

Keep in mind this test is a screen with the ultimate goal of finding parents of children with T21, T18, T13 to allow them both the ability to make a decision and prepare them for life with a child with DS.

The pappa a and hcg should both be between 1-2. With a low pappa and high hcg being indicators of DS, but your numbers really aren't off the charts which is why at your age you came back with 1:26 and not much higher.

I had a chance of 1:4 because of my pappa and hcg were really off, only 34, baby does not have a chromosome abnormality.

Thinking of you.

Hi, I'm new to this but feel like I wanted to contribute as this chat has really helped me this week in dealing with the anxiety of waiting for NIPT results to come back. Thankfully it was on the 6th day today and its now low risk. I wanted to share my test results to give others hope like so many of you have done for me. I had IVF and used an egg donor (29) due to my age (43) so was surprised when I came back as high risk at 1:13 as the US scans were all good. But this was purely due to my hormone levels. The stats were:

NT: 1.6mm
PaapA: 0.17 MoM
HCG: 5.39 MoM

Due to the very low paapA i've been told i'll need extra growth scans and have been put on baby aspirin (75mg) but for now I feel complete relief. Wishing you all well xxx

As an update (in case anyone was following), I received the results of the NICT and it came back very low risk. Only thing now is to continue with increased scans to ensure the baby is growing . I felt like I could breathe again after that phone call! Fingers crossed for all you mums out there!!

That must be such a relief @CanuckinLondon. I'm really pleased for you.

After getting a letter with my results yesterday
1mm NT
2.70 for beta hCG MoM
0.38 PAPP-A MoM
this thread has been a great deal of comfort to know I'm not alone. I think just getting letter didn't help - no context and no option to do anything apart from go down the Google wormhole... We did ivf (this was the second round) and I had been so stressed, and then finally started to relax a week after the 12 week scan with no news - and then to get that through the post was just a shock.

I have a follow-up appointment on Monday to go over next steps with the genetic midwife so hopefully I can get some more information then.

Hi everyone!
Never posted on a forum before but found this thread whilst searching the net for a glimmer of hope after upsetting news of being told 1:112 chance of DS. 34 yo, first pregnancy. Screening done at 11+6 weeks. NT 1.20mm, hCG 3.15 MoM and PAPP-A 0.4 MoM. British but living overseas so language barrier is a big problem so trying to do my own research about which parts of my results are normal / abnormal. Want to return to UK but stuck here due to COVID! I think NT is normal and bloods abnormal but Dr Google is open to be corrected! Cried all day as fell pregnant fairly quickly so naively presumed I would have plain sailing in pregnancy. I know 1:112 isn’t as high as others but still very worrying and with the language barrier looking for reassurance and so nice to have found some here and lovey reading about lots of positive outcomes so praying I get the same good news soon. Having NIPT test tomorrow so fingers crossed xoxo

@PEJSS sorry you've had those results, as you'll have seen from above I'm in a similar position.

Not sure if it helps or not, but I didn't get any context about what the numbers meant (through the NHS, just a letter with them in) and when I went for the follow up appointment yesterday and to get blood for the NIPT the midwife just said "I'm sure you've looked it up online so you'll understand what it all means so I won't bother going through it all again" so I didn't learn any extra, or get any reassurance from that. So sounds like sticking to Google is what you end up doing wherever you are! But it's a scary time and the uncertainty is horrible.

A lot of the sites I read suggest taking aspirin for low papp-a but when I asked about it she said they don't recommend it. Then said we'll deal with the low papp-a later down the line - not that helpful when the first result on Google is increased miscarriage chances!

Anyway, I am not sure if that helps at all, but hopefully you will get your results back soon and know one way or the other.

Thank you that makes me feel better knowing I’m not the only one to end up down the google wormhole! Had my NIPT today so waiting game now. Hoping you also get good news xoxo

Hi All

I got the news that our risk for DS is 1 in 5.

We had 1 unsuccessful round of IVF in January this year and then got pregnant naturally a couple months later which we were so ecstatic about.

I was worried during my scan when we saw the NT measured at 3.4mm but I was hoping against the odds for a low risk screening result.

My numbers are:-
Age: 38
HCG: 2.37 MoM
PAPP-A: 1.17 MoM
Nuchal measurement: 3.4mm

We have the option of NIPT and CVS but I'm unsure and confused about what to do and some help would be great.

I was already struggling with anxiety during this pregnancy and this has just doubled it.

We have a CVS appointment tomorrow just in case we decide to take that route ... I just feel like I need to know for sure but the risk of miscarriage with CVS worries me.

@Herc2021 hi there, I’ve been given the same odds as you and am booked in for an amnio tomorrow morning at 16wks+2.
I’m still yet to make a decision but will after the scan. I’ve had pgs testing on this embryo which is highly accurate but still a screening.
Even in spite of this, the past few weeks have been horrendous.
My NT was 3.5mm
Hcg 2.1
Pappa a 0.999
Age 40

I’ve read many nuchal issues turn out to be fine and ours reduced to 1,5mm a week later at the fetal medical scan which is encouraging.
Just wanted to say you’re not alone and to be kind to yourself in the coming weeks. It’s an awful thing to go through ❤️

@Fa252
Best of luck with your amnio tomorrow! I'm going to my CVS appointment tomorrow as well and will see how I feel and whether I go through with it.

That's good to hear that your NT reduced.
Hoping we both have good days tomorrow, let me know how you get on? xx

@Herc2021 good luck to you too. At least we get to see the baby again on screen! Trying to cling to the positives. I'm going to try and go through with it if I can xx