High risk downs screening result and low PPAP-A...?

[Piccalily19]

So today I got a phone call to say my results for downs screening came up as high at 1:130. I had a look online at my full results and also saw I have low PAPP-A at 0.23

I have an appointment to go through everything tomorrow but I’m going out my mind already this evening, has anyone else experienced this? One bad result worries me enough never mind two 😞 I fell pregnant straight away so I feel like something is definitely due to go wrong

Im 28, 13 weeks pregnant and it’s my first baby (so I have no experience on what any of this means)

Oh and if it helps my nuchal translucency measurement at 12 week scan was 2.00mm

Hey @Piccalily19. I have been through this. With my first baby I had low Pappa-a and a not high but on the cusp result for DS. I had a harmony test and all was well.

This pregnancy (currently 36+2) i again had a low Pappa-a but a High DS score of 1/146. I think it was skewed again by my pappa-a and the fact
I’m now 34 not 31. They told me they treat each pregnancy separately and rightly so. I ended up having a CVS as a definite diagnostic test as I also carry a blood disorder that affects boys so needed to know what I was dealing with.

The outcome is a boy who does not have DS, or the clotting disorder and all his growth scans have been perfect. Today was my last scan and he’s already on 70% centile!

I know it’s a very stressful time. X

@Chefwifelife thanks so much for your reply, so glad to hear you’ve had two healthy pregnancies! But also selfishly it’s nice to hear from someone else who’s been through the same!
Ive been researching options tonight and actually feel a bit better about everything (just a bit... but still counts!) not sure what they’ll offer me but I’d like a harmony/NIPT test next if possible.
Im hoping it’s my low PAPP-A that’s made the downs probability higher... did they say anything about this being a thing to you?

Hey. So I believe the score is a combination of factors. Maternal age. PAPP-A-a and nucheal fold measurement. My PAPPa-a was nearly identical
In both pregnancies. When my first son was born the placenta was perfectly healthy.

NIPT/Harmony are still screening tests and not 100% even though they advertise a high accuracy rate.

CVS is a definitive diagnostic test but more invasive.

Step one is to decide if a DS diagnosis would change you continuing with your pregnancy. If yes then you need to decide which tests you feel most comfortable with.

Harmony etc are only offered privately where I live. The CVS was offering within a week of me speaking to the screening midwife.

Yes I had exactly the same thing with my son. My DS risk was 1:450, which although isn’t massively high, was more than I was expecting. I then got the call about my Papp-A being low. I paid privately to have the Harmony test (£450!), which came back as 1:10,000. For me, it was totally worth the money as it made me feel so much better.
For the low Papp-A, it depends on which NHS trust you’re under. I was put under consultant care and had scans every 4 weeks I think. I loved seeing the baby more! I did actually end up having him 4 weeks early, weighing 5lbs3oz which they thought could have been a result of the Papp-a. They will have advised you to immediately start taking baby aspirin twice a day I expect?

@Chefwifelife I honestly don’t know if it would change anything to be honest but I’m the kind of person that likes to know all information available before I make a decision, so I guess id want to know for that reason
I think I’d ask for the harmony test then if that had a definite DS risk result then I’d probably go down the CVS route!
@Monts45 I think I’d fork out the £450 too in the hope I got a result like yours (so glad to hear your son is ok!). they haven’t told me anything on the plan of attack with the PAPP-A but guessing they will tomorrow 🤞🏻

They were unable to measure my baby's neck at the 13 week scan (wrong position) so I only had the blood test. My odds for DS came back similar to yours. Like you, we don't think it would have affected the decision but I felt we needed to know...

The only option on the NHS (and 100% certain) was an amino which carried a similar miscarriage rate to the risk of DS so we opted to pay for the NIPT privately. It was £400 and worth it for the price of mind when it all came back as low risk. I'm now 23 weeks pregnant and so far all seems ok and 20 week scan went fine. In hindsight, after reading up on the blood test and taking into account my circumstances, (age and ivf) I probably should have opted out of the NHS test and just gone for the NIPT earlier to save myself the stress!

The screening midwife told me that the NIPT is being offered in some NHS trusts and they had in fact planned on bringing it in where I am before Covid so you may even be offered this on the NHS

I just wanted to say that I found the whole situation of waiting for results really tough and I was worried sick so I understand what you are going through so please do take care of yourself. The odds are very much in your favour

Hi OP!
Firstly congrats on your pregnancy!
Please try not to worry too much about these results, I was in a similar position a couple of months ago. My papp-a came back as low, and my results for downs were in the intermediate category. I made myself sick with worry, didn't sleep for about 3 weeks. Had further screening and my results came back as low risk. (Not sure what the exact numbers are, I live in the Algarve and it seems to work differently here)
Those first numbers are based on a few factors including papp-a, age, I think HcG levels and NT measurement. Just markers and a calculated risk.
Have you been offered further screening? I'd recommend the NIPT test, just gives you peace of mind!

I had low Papp-A with my daughter in 2018, which resulted in a high risk downs result. Amniocentesis came back clear (after 2 failed CVS as baby in the way of placenta!). Took baby aspirin remainder of the pregnancy and extra growth scans. I was induced on my due date as consultant said low Papp-A could increase risk of placenta failing sooner and higher risk going overdue. Daughter was born 6lbs 5oz the day after, which was on the small size but she's made up for it since!

Currently 27 weeks pregnant with number 2 and have a normal Papp-A this time and low downs risk. Advised to start baby aspirin from 12 weeks and have additional growth scans again because of small 1st baby. Baby 2 was on 50th percentile at 20 weeks (daughter was already measuring smaller than average at that point) so looking less likely to be small at birth. Every pregnancy is different!

Congratulations and hope all goes well 😀

I had a 1:36 risk of downs because of a high NT measurement. I had the nipt which came back low risk - I went with that (as recommended by my consultant) because it is non invasive and no risk to the baby.
My twins are now 15 weeks old and perfectly healthy. Good luck!

@confused107 thanks so much for your reply! So glad to hear you and your baby are doing ok now, especially as I imagine the ivf was stressful enough.
I went for the NIPT and had it done there and then today, bank is £350 lighter but if it comes back low risk it will be worth every penny. Feeling oddly positive tonight, which I’m sure will soon change back to worry but trying to go with the flow of it.

@Scotinportugal thank you! Yes they offered NIPT and amnio/cvs but I just went for the NIPT for now 🤞🏻 guessing your baby still hasn’t been born yet? But has the PAPP-A affected growth?

@popshell so good to hear of a PAPP-A pregnancy with a good outcome and a healthy 2nd pregnancy, congrats! I do worry about a very tiny or premature baby but I’ve seen more posts from ladies who’ve had good outcomes than really bad ones. Also my midwife today really didn’t seem that concerned about it, she just said baby might be smaller so they’ll do extra scans.

@Robs20 thank you for such a positive response (all these are really helping my worries!) and so lovely to hear you have happy healthy twins

Now just to wait for the NIPT results!...

@Piccalily19 no he hasn't been born yet, I'm 23+4 just now. Not entirely sure on growth yet my first growth scan is 28 weeks. I'm on a group on Facebook for mums with low Papp-a, you should join it, it's super informative and there's loads of stories where low papp-a hasn't affected baby at all. Definitely better than googling which I've banned myself from doing 😂

@Scotinportugal sorry I missed your reply! I’ll definitely join that Facebook group, anything is better than google 😂 Hope everything goes ok for you!
Also just to finish this thread in case anyone in a similar situation ever comes back to it. Had my results from my NIPT test and everything came back low risk of 1 in a million so I’m very happy and glad I forked out for it

That's fabulous news on your results @Piccalily19 wishing you all the best for the rest of your pregnancy