Low Papp-a and 1 in 34 chance DS

[ejacks89]

Tuesday I had my 12 week scan, everything seemed fine however they did move my due date to a week later so technically I was 11 weeks and 6 days when I had the scan.

On Thursday I got a call to say that my bloods had shown I was high risk for Down syndrome - 1 in 34 chance. Based on my age at time of birth (I’ll be 33 and 8 months at due date 7th Dec ), weight (bmi is 17) and the 3 markers HCG, NT and Papp-a.

So my HCG was spot on normal, baby’s NT was within normal range however my Papp-a (placenta protein) was measuring borderline/just below normal range.

weight 46kg
Hcg 1.03
NT 1.65
papp-a 0.38

I opted for the NIPT yesterday as it is now free on the NHS (I’m in the uk) and although it is still a screening it doesn’t have the 1% risk of miscarriage that the amnio has. I’d only get the amnio if this test come back high chance as well as I would want to be 100% certain before we made any further decisions.

Because of the jubilee bank holiday I’ve got to wait at least 2 weeks now and it’s all I can think about.
I keep randomly bursting into tears at the thought of our baby not being okay. I also have a 10 month old, perfectly healthy and weighed 7lbs13oz so this has come as a complete shock as I just didn’t think anything would be wrong with this pregnancy.

Has anyone else been in a similar position and went for further testing or is currently in a similar situation?

I just feel so alone right now 😢

Hi I am in exactly the same position, I had my bloods for NIPT done on Friday and just waiting. I'm currently nearly 17 weeks and couldn't have the initial screening tests. I'm 26 and this is my first pregnancy. My chances from the quad Test came back as 1:8 and I'm absolutely devastated. I'll say a prayer for our babies and hopefully the NIPT will come back soon and with a negative result!

Aww I’m sorry to hear that you are going through the same situation right now.
Yes hopefully we will get our (negative 🙏🏼) results soon - I’m finding the waiting awful!

The waiting is the worst part. I can't stop thinking about it and I'm not in work this week which I think would have preoccupied me. I got told up to 10 working days but because of the bank holiday that takes it till 14th of June. I honestly don't know if I can last that long!

My pregnancy days are long over, but this popped up in "Active" and I couldn't not say anything. My DS (now 11!) also had a 1 in 34 chance of Down Syndrome at his NT screening. NIPT was literally a year away from being available, and I opted to wait it out as I couldn't face blaming myself if something went wrong with CVS. I later had a "safe" amnio at 32 weeks as the risk then becomes a risk of PTL.

My PAPP-A was 0.2, and bHCG was 1.81, and a normal NT (can't remember what it was exactly now)

DS does not have Down Syndrome. He does have ASD, but that's entirely different!! (we all do in our family, so..!)

Anyway, I spent those four months in between researching like crazy. The fact your NT is normal is an excellent sign. Sometimes low PAPP-A will have other reasons which are unclear - I vaguely recall bleeding can cause it, and I bled a LOT in early pregnancy every time. My regular hormones have always been a bit rubbish generally (low oestrogen and progesterone) which had made TTC difficult, so having a crappy result didn't surprise me there. I also had a low PAPP-A in my next pregnancy too; the NT screen was 1 in 5 as a result. However, I had done NIPT two weeks earlier, and DD did not have Down Syndrome. Another friend had a 1 in 2! But her NIPT was negative, and yes, her daughter does not have it either.

As a result of my low PAPP-A, with both pregnancies I was put on baby aspirin, and had various doppler checks and growth checks as it can affect growth. All went absolutely fine, and were born well above their percentile weights, albeit a little early.

Obviously there are no guarantees (I'm 97% sure your baby does not have Down Syndrome!) but just wanted to offer my story as one with identical odds. Hang in there - the next two weeks will pass so slowly, but they will pass, and you will have your answer.

It really is! Have you gone via the NHS for the NIPT? I was told similar - we might have got the results back next week if there wasn’t the double BH but it will definitely be the week after now 😣 I’m in work this week and I’m hoping to just keep busy and avoid talking to people for too long incase I burst into tears. It will be hard though. My way of dealing with things is initially to talk about it (with close friends/work friends), but I just don’t feel like anyone can truly understand unless they’ve been there themselves. I hope you’ll be okay this week.x

I have had had awful results with my last 3 pregnancies. 1:28 with my DS and i opted for a CVS and he was fine. (Scan was good too) 2nd wasnt good and i knew the results were going to be he had DS, i had 1:2 risk and various other risks too. My 3rd was 1:4 and scan was fine again and had a CVS and he was fine. I had issues with pappa with all three but I new with the 2nd that it would be a positive test for DS. I have two older DC and never had any high risk markers but i was younger.

The wait is awful so hugs from me to you all going through it

Hi @ejacks89 . I’m in a similar position, sadly. Had my 12 week scan this Thursday and stats are:
NT: 1.5
HCG: 3.2
Papp-a: .65
my age is 39, though embryos from when I was 36.

Chance of DS is 1 in 83. Had the NIPT on Friday and now play the worst waiting game of my life. Also have the added trauma of a past TFMR due to DS. It’s all bringing back the awful memories from the first pregnancy and I can’t believe my bad luck in waiting longer because of the jubilee!

Thinking of you and sending good vibes your way xxx

@Shattered04 aww thank you for sharing your previous experience and I’m sorry that you had to go through the same situation.

I too feel like I’m currently going crazy!
I’m trying my best to stay rational and hold out for the nipt results but I’m definitely not finding the waiting part easy. Also just got a call from my midwife to say that they inputted my ethnicity wrong on the combined screening which has not given me a 1 in 22 chance instead of a 1 in 34. So 4.5% instead of 3% which is still a marginal difference. My mum is from the Philippines and apparently statistically I’d have a higher Papp-a reading which has altered my chances slightly. They’re going to try to fast track my nipt results in light of this error but I’m not holding out hope and 2bh it hasn’t really made a significant difference to me.

It’s interesting that you mentioned the bleeding as I had come across that when researching low Papp-a however I’ve never experienced bleeding during pregnancy. The main reason I had a feeling I was pregnant again was my missed period which is usually like clockwork.

Again thank you for your story of reassurance 🤍 hopefully I will share the same outcome.

@chiangmai ahh you’re right, the wait is awful! Thank you for your message 🤍

I'm sorry to hear of your experience with high chance results; I feel like no one truly understands it would know what they would do until they’ve been faced with the same situation. My chances have slightly changed now from 1 in 34 to 1 in 22 due to an ethnicity error on my combined screening form.

@Montazooma Aww I’m so sorry that you are going through this too and after your experience with TMFR also 🤍

I can’t even imagine how you must be feeling right now - I hope you manage to get through these days of waiting.

I thought I’d be okay being back in work today, but I’ve already cried twice when someone has asked me if I’m okay 🙃 and I’ve just had a call from my midwife to say my chances have now changed from 1 in 34 to 1 in 22.

Btw I’m not an expert by any stretch; from the results you shared and the info I’ve been given from my screening midwife I’m assuming your high chance result has come from your HCG level combined with your age? Your Papp-a and NT appear completely normal/within range?

xxx

Yes, my midwife said it’s just my age, hcg and previous Trisomy 18 pregnancy that tipped it. I had twin boys after the TFMR and they were totally fine and not high risk. I think that lulled me into a false sense of security with this one.
I’ve also been randomly crying at work - so you’re not alone! It’s just the worst kind of stress, even torture.
I guess we just have to focus on the facts and the facts show we are more likely to be fine than not. It’s just so hard not to go to a dark place. I’ve everything crossed for you xx

Hi,
I just wanted to let you know that I’ve been there for the last two weeks. I had a 1 in 42 chance of DS. My Papp-A was 0.75 and free HCG 4.18. NT was normal.

I also opted for NIPT as I’m expecting twins which makes amino more risky. First go I didn’t get a result - took the test on a Thursday and got told they couldn’t get a reading a week on Monday. I did a repeat test on a Tuesday and got a low risk result exactly a week later.

My midwife said that they only worry if Papp-A is about 0.1 as this can be a sign that the placenta isn’t working as well as it should.

Im sorry to hear that other people are playing the waiting game as I know how awful it is. I spent a lot of time just staring at my phone - couldn’t decide if I wanted it to ring or not! Please try and keep busy and surround yourself with people who can support you xx

@Montazooma I’m slowly getting better at managing my emotions/anxiety as the days pass. I’ve got everything crossed for you too xx

I received a call from the midwife yesterday to say the results had come back early. They came back as low risk with 1:10 000 chance of DS. Cannot describe the relief. sending good vibes your way @ejacks89 for a similar result. X

@Twinsurprise aww thank you for sharing your experience.

I had my first consult yesterday and was prescribed aspirin for the Papp-a and booked in for a 24 week scan so I feel a bit more reassured about that.

I got a call around 5pm today to say that my
nipt results have come back low risk which is a huge relief xx

@Montazooma Aww that’s amazing to hear , I’m so pleased for you 🤍

I got a call at 5pm today from the screening midwife to say my results had just popped up in her emails and she wanted to let me know so I didn’t have to wait over the weekend. They’ve come back low chance - 99.9% low chance for downs. I’m also v.relieved however the low papp-a is still in the back of my mind, so I don’t feel like I can fully relax until my 20 week scan x

Really happy for you both! I'm still waiting! Can I ask whereabouts in the country you are or do you know what lab your results went to? Still waiting and still anxious!

@Tasha123456 sorry I thought I had replied yesterday 🙈 aww hopefully you will find out soon! I’m based in Cheshire and the lab used is in Birmingham xx

Just got my results, low risk for all three. Feel like I can finally breathe again! Xxx

@Tasha123456 aww yay I’m so pleased for you! xxx

Hey, I don't usually post but I used to spend hours scrolling on here when I had a high chance during pregnancy. We were 1 in 20 for the first blood test and a 99% chance after the NIPT. I so desperately wanted the results to be negative for DS and when we found out about the high chance I spent about a week crying.

Looking at these posts has brought back a flood of emotions. I was in mourning for the child I expected I would have.

Our baby is 5 months old now and the most beautiful angel. He also has Down Syndrome. Looking back I wished that I wouldnt have worried so much, we feel really lucky to have him and he brings us so much happiness. I was also surprised that in many ways he's just like a typical baby. Alot of information is outdated online and there's a huge network of mums who have gone through the same thing, the community is amazing around raising a child with DS. So just wanted to say that for us it wasn't the end of the world, actually he's so special in so many ways and wouldn't change things if we could <3

Hope this helps anyone who might be waiting for results who might be scrolling through, sending love