Help please re Combined test high risk downs

[UnspeakableBode]

Hi all I wonder if anyone has any experience. I got a phonecall today after having the combined test on Monday and results came back as 1:92 chance for downs. I'm 34, NT was 1.5mm and my PAPP-A was 0.290. I'm so worried I had test about 4 years ago for my 3 year old and then the results came back as 1:2000 (approx, can't remember the exact results). I have an NIPT test booked for early next week but Im driving myself mad worrying. Has anyone experienced similar and what was the outcome? Thanks

Hi there, so sorry that you are worried. Lots of us have been there with higher chance results for trisomies based on the combined screening.

In your case, your PAPP-A is low (below 0.3MoM - have they prescribed 150mg aspirin daily, to be taken in the evening?) and I suspect your b-hCG will be high (above 1.0MoM). This is the serum profile for Trisomy 21. However, your NT is completely normal. It is extremely rare to see a T21 fetus with a normal NT, so I would take comfort there.

1:92 is a 0.01% chance of your baby having Downs. I would be surprised if your NIPT came back as anything other than lower chance. Fingers crossed it comes back quickly! Mine took 6 days, including a weekend (combined screening was 1:66 for Edwards/Pataus; 1:140 for Downs - NIPT 1:10,000).

Take care, the wait was one of the worst times of my life

Hi , this happened me , it was the low Papp-A that drove the odds mine were around the same as you and my Papp-a was 0.34. Anyway I decided to do the harmony test privately and got all low risk . Baby is now a happy healthy 3.5 year old . Xx

Thank you for your reply! They haven't prescribed aspirin but I might call the midwife back tomorrow to ask about that. I'm a bit concerned that even if the NIPT does come back as low (which would be a massive relief) the high HCG and low PAPP-A could mean other complications, do you know if this is the case? I feel so clueless!

I should add that the low Papp-A didn’t cause any complications in my pregnancy or birth and the midwife said maybe it was just in the day they took the bloods it was low but they don’t do retake . It also happened my friend , quite common these days for whatever reason.

@SaraKitty, thanks fornyou reply its really reassuring to hear people have had similar and all been fine! So glad your little one is doing well!

Hi! I totally understand, I had 1:26 chance at my 12 week scan and the NT was 3.6 and my papp a was 0.67, I can’t remember the other ones.
I had the NIPT and the long wait but it all came back clear and I got to find out the sex too!
I’m now 22 weeks and the baby is looking very healthy. Try and keep yourself busy, don’t dwell on google and remember a lot of the posts on here will be sad or negative because people don’t usually post the good bits! Xx

@UnspeakableBode

Thank you for your reply! They haven't prescribed aspirin but I might call the midwife back tomorrow to ask about that. I'm a bit concerned that even if the NIPT does come back as low (which would be a massive relief) the high HCG and low PAPP-A could mean other complications, do you know if this is the case? I feel so clueless!

Hi, so low PAPP-A can be an indicator that your placenta’s implantation is not as optimal as it could be, due to impaired spiral artery remodelling. This is the process by which your uterine blood vessels transform from low-flow, high-resistance to high-flow, low-resistance, needed to sustain and grow a whole new organ (the placenta) and fetus, which contain cells which are ‘foreign’ to your body. It’s a huge biological undertaking! Aspirin, when taken in a low dose started before 16 weeks, supports the process of spiral artery remodelling and thus reduces your chance of developing pre-eclampsia by 17% (20% of women with low PAPP-A will go on to develop pre-eclampsia without aspirin therapy). That’s the only concrete correlation we know about in terms of low PAPP-A and ‘negative outcomes’. There is also an association with small for gestational age babies but this is less well understood. They should be able to explain all this to you once you’ve had your NIPT results back. Low PAPP-A is just a risk factor and not a guarantee that anything will go wrong. The vast majority of women with low PAPP-A have completely normal pregnancies and deliveries

And high b-hCG has no firm correlation with any negative outcome (with the exception of increased morning sickness!); the level will gradually fall over the course of the pregnancy and is nothing to worry about.

I hope this isn’t too technical and I am happy to explain more if useful.

@LabradorFiasco I think 1:92 is 1.1% not 0.01%

OP fingers crossed for you NIPT test. I know it's easier to say than do, but try to keep busy and not worry too much until you have the results.

Good idea to contact your midwife and talk through the results.

If it’s any help my readings were - HCG 1.47, NT was 1.7mm and Papp-A was 0.25

Hey, sorry you're going through this stress. I had a 1/5 chance of downs and 1 in 89 of the other two. Papp a was 0.22 and NT 2.7, I'm 33. Baby boy is now here and no issues whatsoever!

Hey, hope all went well for you OP!

I know this is a few months old but just wondering if anyone sees this, could you tell me whether an NT measurement of 2mm at 13+6 is "normal" and would make it extremely unlikely for baby to have downs? I keep reading that a normal NT means it's extremely unlikely (despite bloods / other risk factors) but not sure what the cut off for normal is... ?

Pappa was fine, My HCG was 2.21 which is apparently a little high but overall my risk is 1:2000 which I know is low risk but for some reason I'm really worrying about it 🤦‍♀️ I think because I know others who had vastly lower risk given.

Any reassurance/ info appreciated x