Low Papp-a/high risk for edwards and Pataus

[Essex1512]

Hello ladies
Following on from my 12 week scan (all fine and NT 1mm) I got the dreaded call to say I was high risk for Edwards/Pataus with a 1/14 chance. Was booked in for a CVS test but when I got there, I had another scan and all looked fine so she said best to wait to have an amniocentesis in 3 weeks time to get a more accurate result (incase the chromosomes were just present on my placenta only). Queue a long an agonising wait!

My Papp-A is low at 0.1 (they didn’t mention this, it’s only me googling and I had to ask if I should be on Aspirin) and my HCG is 0.4 (which one midwife said was normal).

I suppose my question is has there been any other ladies with similar odds/papp-a/HCG. I’m praying that as all looks good on the two scans I’ve had,all is ok but I just hate this waiting game :(

Hi, I had high risk for DS, not edwards.

Why didn’t they offer the NIPT? If you’re in uk it’s free on the nhs if you get high risk at the combined test.

if nipt comes back as high risk too, only then go for amnio.

call them and ask for it, they can’t refuse. You’ll get the result in 1-2 weeks.

when they called me with the high risk for DS they offered me the nipt and had it done the same day.

good luck x

Definitely get the aspirin, start it now, as your papp-a is very low. I also got it, 150mg daily with evening meal. Best to start at 12 weeks.

@CristinaNov182 they did offer it to me but my hospital said if it came back as low risk I then couldn’t have the amniocentesis on the NHS…plus they said NIPT was like 80% accuracy and I’m so anxious I needed to know for sure so opted for the amnio😬. I’m just willing the days to fly by so I can find out x

@Essex1512 Hi, really sorry to hear what you’ve been going through. I am late to this post but I hope this can still be useful to you / anyone else. My 12 week scan was all good, my NT measurement was 1.60mm so within the normal range. My combined test came back as 1 in 41 chance of Trisomy 21 and 1 in 8 chance of Trisomy 13. I had low PAPP-A and HCG was a little low too. This was really scary. We went straight back for a NIPT. After a very long and stressful week, the result came back as high risk for Trisomy 13. We were devastated. The midwife told me the NIPT is 99% accurate but after this result, I read several medical reviews and studies which say the NIPT is not as accurate for Trisomies 13 and 18. Plus, there is a chance of a false positive result. We then decided to go for an amniocentesis. Before the procedure, a doctor and consultant did an ultrasound, there were no soft markers of Trisomy 13 on the scan. They told me they had never seen a positive case of Trisomy 13 where the scan had shown no soft markers. But I still had to wait for the result. I received the call yesterday and the amniocentesis results confirmed my baby does not have Trisomy 13, 18 or 21 🙏🏽 I cannot explain the relief and joy. I wholeheartedly sympathise with anyone who has experienced this. I wanted to write this so people have hope that the NIPT can be incorrect.

@BS82 thank you so much for your post and I am relieved to hear that you had such a positive outcome following your procedure! It’s such a stressful and worrying time isn’t it.
I had my amnio last week but have since been told my sample has been contaminated so it’s being reanalysed and could be up to another 2 week wait to see if they can get results from it. Trying to remain positive after no soft markers were seen on the ultrasound :)

@Essex1512 It is so scary and stressful. I understand exactly what you’re going through. I’m so sorry you have to wait for potentially another two weeks. It’s a good sign that there were no soft markers. Stay positive, I know it’s hard. I watched a lot of Netflix to try to pass the time! Sending you positive vibes.

Hi all,

I see it’s been a few weeks since this post. @Essex1512 how did you get on with the results? I am currently in the exact same position, had my 12 week scan along with screening and have a 1/4 for Edwards and 1 / 79 for Downs….I got offered to the CSV almost right away but I’ve decided to go for the NIPT and if need be go for the amnio test week 15. I refused the CSV as after much research I see it’s not as precise at the Amnio test.

I also had high risk during my last pregnancy and the NIPT ruled it out and my baby girl was perfectly healthy.

Its an incredibly hard time for us mums to be. I will get my results in a few days, I know 1/4 is extremely high…which is what makes this so hard! The NIPT better not give a false positive but the most important thing is that my baby is healthy….so here I am hoping for the best and if need be will do the needed invasive test

Hi @CarolineMadeid I am sorry to hear you’re going through a tough and difficult time too :(
my results finally came back to say all clear which was a huge relief, only to be knocked back a week and a half later at my 20 week scan with low amniotic fluid (Oligohydramnios) and IUGR, then we’ve now been told there is a chromosome issue - I will find out more next week but it is most likely the end of the road for us.

I wish you lots of luck and positive for your results as I know how hard it is with all the waiting and feeling like you’re in limbo! I found changing the odds into a percentage provided a bit of a comfort but still, as you say we go through so much!

@Essex1512 it sounds like you are going through one hell of a time…all I can say to you is don’t give up hope. And if this baby doesn’t make it then it simply wasn’t meant to be. I cant help my emotions take over me, sometimes I’m more positive and sometimes I just need to do tons of research to understand more….it’s so hard and I’m thinking of you! Lets see where this journey takes us.

@CarolineMadeid i am very much the same, some days positive when I read such amazing stories and then other days not so much :(
I have everything crossed your NIPT results come back negative and your journey is then less stressful and filled with happiness. Please keep me posted too xx

Hi @Essex1512 Thanks so much for your good wishes, my NIPT came back with low risk and I have another scan next week so hoping for the best. Has there been any updates for you? I can’t imagine the rollercoaster of emotions you have been going through.

@CarolineMadeid oh I’m so pleased for you, such a weight off your mind and I’m sure your scan will reconfirm that good news and you can relax ever so slightly :)

Unfortunately I had to have a surgical termination at 22.5 weeks due to the chromosome issue, even though we know it was the right decision as baby would have had no quality of life it still is so upsetting and tough. Just waiting on tests now to see if we’re carriers or just a random unfortunate event.