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

Thanks for replying everyone. Still waiting for results-but I’ll let you know what the outcome is. I obsessively read everyone else’s stories, and it does make me feel better to know other people have gone through this and coped somehow - whatever the outcome might be.

Just heard back from hospital. My results have gone from 1:18 to 1: 1000000

Am so so so relieved!

Was certain it would be back news. Feel so lucky.

Thank you for all your support and stories and reassurance. I hope to pay it forward in turn.

@Paperyfish so pleased for you!!! Enjoy your pregnancy xx

I’m 36, 14 weeks pregnant, live in Wales.
The combined test came back 1:4883 for trisomy 21 but 1:19 for trisomy 18. Had the NIPT test last week it’s available on nhs for high risk results from combined test and currently awaiting result. It’s been 5 days now.
This post has given me some hope in the last few days, the anxiety is unbelievable x

Hey there. I'm in Surrey too, I'm 28 and currently waiting on my blood back as my NT was 3.2mm. they didn't seem too concerned as I think they saw a nasal bone and nothing else concerning but I'm considering NIPT if I get a risk that's not high enough for amnio, but still high for my age. How did you go about getting NIPT on the NHS? I'm assuming it won't be offered to me if my risk is less than 1:500 as it won't be considered high, but I won't of course be offered the amnio either. I don't think I'll feel comfortable just leaving it so I'll pay for NIPT but if I come back high risk I'd much rather have NIPT than an amnio any day. Xx

That's so good, I didn't realize NIPT was available on NHS for high risk. The chance of miscarriage with amnio terrifies me

After finding our baby is high risk 1/47 for trisomy 21 last Tuesday, I've really struggled to find any forums that post all the levels and results to compare so very grateful for this one. Thought I would do the same in return.

NT screening results
Nasal bone - 2.0mm (normal range)
Nuchal - 2.1mm (normal range)
B-hCG - 1.175MoM (slightly elevated)
PAPP-A - 0.271MoM (very low)

Harmony test was done last Thursday so just waiting on results. Will update once I hear back.

@weenee

After finding our baby is high risk 1/47 for trisomy 21 last Tuesday, I've really struggled to find any forums that post all the levels and results to compare so very grateful for this one. Thought I would do the same in return.

NT screening results
Nasal bone - 2.0mm (normal range)
Nuchal - 2.1mm (normal range)
B-hCG - 1.175MoM (slightly elevated)
PAPP-A - 0.271MoM (very low)

Harmony test was done last Thursday so just waiting on results. Will update once I hear back.

Just got harmony results back! Baby is low risk!!

Watching this post and waiting for harmony results. Normal scan but being 40 and bloods have put me at 1:24 for t21. First pregnancy and found out I was pregnant via the doctor who thought I was so much further on than I was due to hormone levels. I’ve had irregular periods for a long time and had done three negative tests so didn’t know we were expecting until I was 7 weeks.

@vdavid I read another post on combined tests and the two ladies had very similar results from scan and bloods but one lady was 39 and other 37, the difference in their calculated risk was huge. I was surprised but I think the nhs test is statistics based (from what I’ve read). Hope all is ok

@krazymom my thoughts are with you and your family.

Thank you to all the moms that have bravely stepped up and put their stories here. This thread has been so informative and so hopeful to a lurker like myself. I’ve been looking on the internet for information for the last 2 weeks and it’s great finding this thread.

I am also nearing the end of my 2 week wait for my NIPT results. I figured I would post my story and perhaps an update when I have my results.

A little background information: this has been a very stressful and anxious pregnancy for me. I had a miscarriage at 8 weeks back in July 2020, so the trauma of that is still fresh on my mind.

I had an NT scan and a enhanced first trimester bloodwork at 11w4d and here are my results:

NT: 1.8mm (1.48 MoM)
PAPP-A: 0.71 MoM
HCG: 1.15 MoM
AFP: 0.96 MoM

Based on maternal age alone (I am 35, will be 36 at full term), my risk is at 1:284. The EFTS cut off is at 1:350, and my EFTS result is at 1:312.

Getting screen positive for first trimester screening is a terrifying ordeal, and I feel for everyone on this thread. I am trying to remain hopeful, and trying to remind myself that the odds are in my favour.

Hopefully this post would help someone else, just like how every single one of you has helped me today. I will update when I have my results.

Hey Mamas,

I wanted to provide an update. Just got my NIPT results back after an anxious 13 days. I got the all clear! All trisomies are at low risk of less than 1/10000! And we found out we’re having a boy!

Wanted to wish everyone on this thread that is still waiting on results the best of luck. I know the wait is very torturous, and I feel for everyone of you.

Take care, and thank you for contributing to this thread with your stories. I know it really helped me during this time.

Much love!

@Jazebelrose great news.

Good luck to everyone still waiting, we came back as low risk. Baby Boy on his way. X

I was so relieved to find this thread I had to jump in.
I’m 34 and pregnant with my second. As soon as I found out I was pregnant I paid out of picked for the NIPT test. I got the results back in 10 days saying “low risk” less than 1/10,000 chance for all three trisomys.
Fast forward two weeks and I did the combined first trimester screening. I got the results back the next week and was shocked to learn I had a 1/56 chance of Down syndrome.
NT-1.4mm
PAPP-A- 0.43
bHCG- 2.38

My dr wasn’t concerned because I had the negative NIPT but still referred me to a genetic councillor. She called me 3 days later and basically said the same thing as my dr. She said she was not concerned and did not think I should do an amnio. She stressed that HCG can vary and she’s seen numbers as high as 35x the “normal” level. She also said they don’t worry about Papp-a unless it’s less than .4.
I couldn’t shake that 1/56 number and was seriously contemplating an amnio when she suggested doing a different brand of NIPT to ease my mind. So I went today and did a totally different test and should have the results late next week. If it’s negative I will leave it be.

Hello 👋🏼
This thread has been very reassuring.
I am 35yo, pregnant with my second. 14w.
I was called yesterday and advised my chances of t21 are 1/141 - I realise this is less than 1% chance but it’s still anxiety inducing.
The cut off for extra testing was 1/150.
My nt measurement at scan was 2.1mm.
I don’t know the bloods details but I think I will try to find out.
I have an appointment in 3 days time to have bloods taken again, this time for the NIPT test 🤞🏼

So stressful! Your odds are still great though. Keep us updated. I’m still waiting for my second NIPT results.

Hello, I have just last Wednesday had the results from my screening where I found out I was high risk. This thread has been so helpful as I had a chance to look at others' measurements. So I thought I should share mine too for any future ladies who find this.
I'm a little confused about mine as it says I have 1:82 chance but my measurements for Nuchal translucency and hcg seem worse than a lot of people given higher chances.

NT 2.7mm (however during the scan I noticed her take the measurement many times and it did come in at 2.5 as well) This is just below the 95th percentile so very borderline.

hCG 157.1 lU/I which was equivalent to 3.2 MoM but then after it says (adjucted by factor 1.04) Not sure what that means? If anyone here does I would love to know.

PAPP-A 4.243 IU/I equivalent to 0.78 MoM (adjusted by factor 1.12)

I have a 1:20,000 chances of Trisomy 13/18 which I have now realised is because of my very very high hCG levels.

It was a strange experience at the hospital because nothing about my bloodwork was mentioned during the scan, although looking back now I can see she was checking for Trisomy 21 carefully as she took my nuchal measurement many many times.

When I was sat down and told about why my risk was higher, I was told my scan had been perfectly normal and that was not why. Instead it was because of my low PAPP-A. Which at the time I just accepted automatically. It wasn't until I came home and began looking at research articles that below 0.5 would be very worrying and 0.78 doesn't seem that far off 1. My hCG levels weren't mentioned to me despite now realising that seems to be the biggest red flag being 3 times what it should be. And my nuchal measurement was not perfectly normal, it was only just within the normal range.

This experience has put a lot of doubt in my mind as to the chances I have been given. I feel from my measurements they should be much higher. Anyway, we immediately had the NIPT test and I am waiting for results. If it comes back with a high chance I will do the amniocentesis. Which my family are confused about because whatever the outcome I will be keeping the baby. At first I was shocked and scared. Mostly of the unknown. But if I can be certain as to whether she is or isn't (not sure it's a girl but I have a feeling), then I can prepare mentally, do the research and reduce my fear. No matter what the outcome everything will be ok. But I have a type A personality and I don't like even the smallest of surprises or changes to routine without preparation.

There was something else. I had an early scan because I found a cheap place to do it just 2 weeks before and on the scan it looked as though there was the sac with my baby in and an empty sac next to it. By the time we had the next scan, it seemed to have disappeared. I was wondering if this could have been my bladder? Has anyone else had a scan with their bladder showing up looking like a another sac next to it? I wish I could send pictures but I can't see anywhere here to add.

How old are you? I was shocked that my risk was so high as well but they said the fact that I will be 35 at delivery impacts that number. 2.7 is below what they like to see but they might still consider it borderline. I don’t think your Papp-a is much off from normal so it’s probably all riding on that HCG. My genetic counsellor said HCG on its own it’s such a bad indicator. She said she’s seen HCG as high as 35X normal and everything was fine.
I wonder if that empty sac was a vanishing twin.
What’s your next step? Did they tell you?

I am 32 now but will be 33 when I deliver. When I was looking at your measurements, they seemed much better than mine. I really don't know how they work out the statistics or how accurate they are.
Thanks for letting me know about the HCG being a bad indicator as that was my biggest worry. I wish I had asked about the scan before as it could be that or perhaps just my bladder. Trying to work out scans is hard work. I spent quite a while observing whether I could work out if my baby had a nose bone in the scan or it was skin.
I am waiting on my NIPT results like you but I would like to go and get a private scan too, to check the nuchal translucency has gone down. I have read a lot of articles about NT thickness being related to fetal death and I'm not sure I can wait till 22 weeks to see.
After NIPT if it comes back positive I will have the option for an amniocentesis. Still uncertain about what I will do. I'm just going to wait till the time comes. Good luck with your second test. I think with 2 negatives you can feel quite sure.

Hiya, thought I'd pop on and reassure you all my baby's measurements come back. Normal. Nuchal translucency was 2mm. Papa-a was 1.67 mom the only one that stood out was my high hcg at 4 mom! ( so well over ) but to reassure u it was the same with my previous pregancy. And everything was absolutely fine. I got the Nipt this time and got a low risk less than 1/10,000 and the harmony test is extremely accurate. Your results don't look that bad to be honest it maybe because your Pappa-a is slightly below 1 mom. Hcg on its own isn't really considered a worry as hcg is so different from woman to woman. And hcg fluctuates very widely. Try not to worry there not that bad results.

Your NT measurement is still below 3. I would try not to stress (but I’m not one to talk) so you are just waiting for the NIPT results? Hoping they come back good and you don’t need to worry about an amniocentesis

I had my bloods for the NIPT taken today, and I found out my details.
NT 2.2mm
Papp-a 0.64
Hcg - 2.22
Crown to rump length - 63mm at 12w5d
And nasal bone was present at scan.

Should get results Monday or Tuesday, but feeling more positive now :)
Midwife just said being over 35 makes a big diff on risk numbers.

Oh also I was told before the average for nt is 2.1 so every 0.1 above this, even if it’s less than the 3.5 total, impacts the algorithm that calculates risk.

That’s awesome. Those numbers aren’t crazy. They also go by age at delivery not conception so I’ll be 35 at delivery. I got my second NIPT results and low risk again. Thank god

That’s good :)