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

Hope you're doing well? Wondered how did your testing go?

I'm going through something similar and absolutely nervous and just want to know ASAP.

Just an update just in case it helps anybody who's going through something similar.

Results came back clear for downs, edwards and pataus.

Don't lose hope!

Just an update to anyone going through this right now.
My results were
Pappa 0.49
Hcg 2.2
NF 1.4
Age 25
My baby was born healthy and with no genetic abnormalities. I didn't have further tests at the time as would have loved them either way but thought I'd update everyone just as I reme searching these forums at the time.

Hello,

I never usually comment on threads but this one has been really useful-thanks so much for sharing your stories. like others i've had weird bloods and a high downs risk- now in the dreaded week wait for the NIPT result.

Age 40, 41 at EDD
HCT 4.67
PAPP-A 0.728.
NP- can't remember but normal i think, they saw lots of hand waving.

risk given 1/15

Really trying to remember this means 93% everything is fine but its so hard. wish they had told me i'd have to have the NIPT just based on age alone as then I would have held off telling my 6 year old/

It's so hard!

I've commented on this thread before. I was 37 and got I think a 1 in 8 risk. This was 8 years ago. The wait is awful and I think back then I had to wait 2-3 weeks for the result. Everything turned out fine though and aside from possible ASD he's a happy, healthy 7 year old boy. I just thought I'd comment because I too had told my then 5 year old and she was so so excited. I remember wishing so much I hadn't told her until the 20 week scan. I think that was the hardest part. I hope everything works out OK for you.

If only the NHS offered the NIPT test straightaway for people that would automatically be classed as high risk based on certain factors such as age etc. It would save so much unnecessary worry & stress.

I was given a risk rating of 1 in 9 for DS, likely due to my age (44 at expected due date). Plus my previous pregnancy was affected by Edwards syndrome (1 in 2 risk then) so that may have been a factor.

Pleased to say everything worked out this time & my 12month old keeps me busy!

Absolutely (IF if was also accompanied by unbiased and up to date information about Down's syndrome). I was lucky enough with my second, having already a DD with T21, that my local NHS trust agreed to bypass the combined test (so my 12 week scan was purely a dating scan) and refer me to the NIPT, as I just knew that the combination of my being 36 and having a child with DS would increase my odds of a false high chance. I hope other trusts see the light there too, because in certain circumstances the combined test is pointless.

Glad things have gone smoothly with your second @curliegirlie , your daughter must be over the moon! And so good to hear all was well with you @Ladybug06

Pleased to report our results came back much faster than 10 days and we are back in the low risk catagory-

For anyone else UK based going through this would highly recomend calling Arc
https://www.arc-uk.org/ , they were very supportive and knowledgeable

Great news @Petra345 you got your results quicker than expected and your pregnancy has now been classed low risk 😊

Ha, my pregnancy with DD2 was actually 6 years ago now, but yes, my two generally get on like a house on fire!

Hi everyone,

this thread gave me so much hope and anxiety relief after getting a risk of 1:8 to DS. So I am here to also post my happy outcome, after receiving a clear result on my NIPT test! I have never posted on a forum before, but wanted to do it as my blood test come out with quite crazy results.

HCG 9.something MoM
PAPP-A 0.22 MoM
NT 1.2mm
Age 32

hope it gives a little bit of hope to others out there too ☺️

Found out two days ago that I'm high risk for trisomy21, grateful for this thread providing some reassurances <3 I have papp-a at 0.7, HCG is 4, NT was 1.4mm and scan had no issues whatsoever. I'll be 37 at birth so seems that and the high HCG has put me high risk category. They've said 1 in 76 chance. It's such a rollercoaster and I'm the worst obsessor. My sonographer said high HCG could be because foetus is a girl so i'm hoping it's that. I have been super itchy through trimester one so doesn't really surprise me my hormones levels are high but now worried it was a sign all along of something more serious :( have been offered both the Harmony and the NHS SAFE test so grateful to get two tests to verify either way. Has anyone had early results from Harmony in the 3-5 days and how much info does that give versus the full report that comes within 2 weeks? x

congrats! did they say what drove your HCG up?

@babybel267 i am so sorry you are going through this. It’s definitely nerve wracking! But when bad thoughts get a hold of you, remember to take some deep breaths and keep in mind all the positive stories you read here. Hopefully soon you will get to add yours when you have your results! Your numbers are not so high, so it really should be all fine! ❤️

Regarding my HCG, first I would just like to point out that I am based in a Nordic country, so procedures might be a bit different. In short… they are not sure why my HCG is so high. But the midwife kept calling it “high but not too high”. I am also having a baby girl and my high HCG symptoms have been quite similar to what my own mom has gone through while pregnant with me. So who knows, maybe that’s just how it is.

But before the NIPT I had another ultrasound where a doctor from the Fetal Medicine Unit looked at my baby and analyzed my placenta. They were afraid that the high HCG could be due to clots and other issues with the placenta. But both placenta and baby looked completely normal on the ultrasound. The doctor and midwife were all the time just telling me how sometimes women have their hormone levels high and they don’t know why. I will have my 20 week scan at the same place and they are going to check my placenta again, but other than that, they are not too worried.

Hello all,

First of all, I am very sorry for all the women who are in this chat and passed through the same that I was passing last few weeks. I was feeling each of you every time I was reading this thread and read it several times.

My age 35, first child, and the parameters are as follows:

• TN - 2.02
• Nose bones visible
• PAAP - 0.339 MoM
• HCG - 1.8 MoM

The calculated risk was 1:30 for DS.

My NIPT came today as negative for all 3 trisomies. I hope this one more positive story encourages women who will read this thread.

Hello,
like many before me I've never posted on a forum before, but after receiving the Combined test results I've found comfort in reading your experiences.

I'm 27, first child, and my parameters are:

• TN - 2.78
• Nose bones visible
• PAAP - 1.382 MoM
• HCG - 3.291 MoM

Risk 1:213 for Trisomy 21 which is considered high for my age.

I have to wait until next week to book my NIPT and I'm sure the days till I get the results will be awful. Doctor was vague and wouldn't tell me if my parameters are worth worrying over or not, just that in the country where I currently reside they are considered high risk.

Baby looked perfectly fine at 12+3w scan. I honestly don't know what to think.

Hello Anastasia,

I wouldn't worry, firstly it's < 0.5%. Secondly, your PAAP is high, and in DS this parameter is low. It showed you slightly higher risk because of 2.7 TN, as 2 is considered a limit (in some countries it's even 2.5). Don't forget that this is a risk calculator, not diagnostic test. Do the NIPT, but stay calm. I had 1 from 30 risk, and was dying those weeks when waiting for the NIPT result, that ruined my health and relationship, if you can stay positive it's the best. There is a small risk, yes, but really very small, we are colliding with the way higher risks in our daily life and even don't think about it:)

@anastasia22 sorry you’re going through this. The NIPT can be quite accurate for ruling out it Downs. However also please know the NIPT is also not diagnostic, in some instances it does throw up false positives (less so for Downs, but still in 20% of their detections). So if something does come up, it is worth remembering it is also just a screening, same as hormone levels - with just slightly more accuracy.

I hate these combined tests - considered high for your age. But it might be normal for you. I’ve had “abnormal” results for both of my boys. And both times my readings were pretty much the same & both kids are perfectly healthy. I honestly believe that it’s just normal for me. I was given 1 in 33! Stay positive

Hi @bansku do you mind me asking what your PAPP-A result was? I see this was a long time ago so appreciate you may not remember. I have just found out this week we have a 1:8 chance of DS, hcg is 4.4 and Papp-a 0.34. Waiting for results of NIPT test.

This post has given me a glimmer of hope although I’m still extremely worried and terrified. I’m posting my screening results as I’ve found it useful to see other peoples and I will post the results of NIPT when we have them, still very nervously waiting.

Age 33, IVF pregnancy, scan at 12+1 (although measured at 12+6 even though we know the exact dates due to the IVF)

Sonographer said everything looked great at scan. She didn’t comment on the presence or lack of nasal bone but her report stated “ head shape and brain anatomy appeared normal”.

Screening has given us a 1 in 8 chance of T21.

NT - 2.0mm
HCG - 4.40 MoM
PAPP-A - 0.34 MoM.

We’ve just had the results from the NIPT we did on Friday and it has come back with low chance 🙏🏼

Congratulations, great news. You must be relieved.

Thank you. Yes, so relieved! Feels like I can breathe again. I think that has to be the most nerve wracking phone call I’ve ever taken in my life. Can’t get my head around why my PAPP-A and hCG are so off if it’s all ok 🤷🏻‍♀️

I had it with both my girls (who are fine) but not my boy (he's also fine), so I think it's just what my body does for girls!