Low Paap-a, VSD and amnio test

[Elektringa]

Hello,

Just want to talk to someone. I had last monday my detailed scan where they told me I had low Paap-a hormone and due to it baby is small, head measured outside the scale to the small side.
Went for another scan yesterday and size was good however I am 22 weeks and they said it looks like it's 21 wks by the size. They did ask about downs test, but these came back as good, 1:3500. On top of that start looking at the heart and found a small hole, tomorrow have another scan with cardiologist to confirm if it is VSD - Ventricual septal defect. They also said probably I will need amnio to rule out downs or other syndromes.
We are at a loss. Staying at home untill tomorrow as can't bear anyone asking at work how the scan went.
Anyone with similar issues? We are hoping for the best but getting ready for the worst. We do have a 5 year old which is healthy and waiting for the baby sister so much.
How to deal with everyone asking around? My mum is saying not to say anything to anyone, but I feel if I say how it is I do not carry all the stress alone, ir helps out to talk.

I had low papp-a and my DD continually measured very small. I had to have regular scans and although my nuchal test was fine, the possibility of a chromosome disorder was raised. She was born prematurely due to me developing a pregnancy related illness and was as small as the scans suggested. However she didn’t have a chromosome disorder and is developing normally, she’s just very short.

I told people we were having regular scans as she was small, but nothing more

Low papp a, consistently small baby and a VSD would be highly suggestive of Edwards syndrome. We had all three and DD did have Edwards diagnosed at 23 weeks. We were low risk at the 12 week scan.

I hope it isn't Edwards for you but very happy to talk about our experiences if you should need it.

We are so scared at the moment and just waiting for tomorrow.
How long it would take to find out about the syndrome? They booked another scan after 4 weeks and said probably would do amnio then but I feel if we need one I want it done tomorrow ideally so we would have results asap.
Unfortunately in this case we would probably think about termination and therefore on monday I will be 23 weeks which means only week left to do that.
However I am hoping its only VSD which I read about a lot and could actually close before baby is born.
I felt from begining that something is not right :(

I’m not sure how quickly you can get harmony test results now, might that be an alternative to an amino? Have you explained to the hospital that you would want to terminate and therefore want early testing?

My downs results were about 1 in 250 from the triple test btw. My DD had a different growth pattern to yours though, although she always measured small she had a comparatively big head, which is more a sign of IUGR (which she turned out not to have either).

With a serious anomaly you can terminate up to 40 weeks so no time limit at all although obviously the earlier the better for your mental health.

We were offered an amnio the day of our fetal echo (heart scan) but as termination wasn't right for us we took some time to decide. I would push them for an earlier amnio. It is the slow growth that would concern me. Foetuses with Edwards for example are symmetrically small and the growth delay was what clued us into Edwards with DD even though the fetal medicine consultant didn't think it was.

You could go for Harmony but the results take longer and if positive would have to be confirmed by amnio anyway. Crossing my fingers that it is something very minor for you.

Amnio initial results for the three main trisomies take 2-4 days usually. I felt early in in my pregnancy with DD that something wasn't right too but with subsequent healthy DS was confident all was ok

They told me yesterday that best option in this case would be amnio and not the blood test which of course I would prefere due to risk of miscarrying. I am hoping cardiologist will be able to say more tomorrow and possibly get the test done asap afterwards.
Though my first pregnancy was fine I was not coping well afterwards, it took a while for me to start talking about how I feel, therefore now I want to be more open in order to avoid any depression.
I just don't understand where are Low paap-a results written as I do not have them in my hospital book and in the letter it just says about the syndromes.
If I understand right if they confirm VSD tomorrow I have to do amnio anyway to rule out anything else.

Often they don’t report the pappA on your notes they do them with your HCG at 12 weeks to calculate your downs risk and risk of edwards and patau.
I have also had unfortunate experience of an edwards pregnancy so I am really hoping that it isn’t that for you. Amnio wise (as far as I know) the risk is when they’re carrying out the procedure and if it all goes successfully baby should be fine. We had CVS to confirm our NIPT bloods as I wasn’t pregnant enough for an amnio and my consultant said it was highly unlikely for anything to go wrong particularly with a healthy baby. I can understand you are worried though.
It’s such a stressful time the not knowing I really hope they are able to give you some answers soon.

Your PAPP-A figure might be in your 12 week scam report? Mine was.

I did have low PAPP-A, but that in itself isn’t a concern.

No my Paap-a results not in the book, checked it today one more time and could not see anything relating to Paap-a. Unless it says anything else and I do not understand.
It's very stressfull as our daugher keeps talking about baby and kissing the belly while I am so stressed.
Will see what cardiologist will say tomorrow about the heart.
I feel so isolated now from the world. Scared to move or talk with anyone. And I think I may have SPD as it's getting worse today, can't walk or stand for longer than 10min or sometimes at all!

An update. Cardiologist did not see vsd. However said there is always a sloght chance of having it due to the way scans and muscles work.
However they said we need to have blood test or amnio to rule out Downs syndrome.
I booked in for amnio on friday but just decided with husband to go for blood and if bad results only then amnio as I am stressed about miscarrying.
Any tips between blood and amnio ?

Which blood test? Is it a NIPT?

Good news about the cardiologist. Does that mean the only potential flag for a chromosome disorder is the baby’s small size? What’s the blood test they’re offering, is it Harmony?

So the only flags are low PAPP-A and measuring one week behind??

Hi,

Basically they said they are not worried by low Paap-a at all now and even cardiologist when looked at me said- I can't imagine you having a big baby anyway. I am petite.

They want to rule out syndrome because of the heart although this is kind of rules out now anyway.

They let us choose between private blood test ( noone mentioned name Harmony or NiPT, I think it's the same one) or amnio.

Money is not an issue and I am stressed about miscarying therefore will go with blood and if results will be bad only then amnio.

The only thing is, I was 1:3000 for downs and 1:1500 for other two syndromes, therefore not sure whether this could have changed at all.

Feeling positive now.

So the only flag is a heart problem which the cardiologist couldn’t find on a scan! Sounds very positive!!! Hopefully the test results will confirm it soon and you can just relax for the rest of this pregnancy!!!

(Just on another note, if PAPP-A is low I’d consider asking for a growth scan and also to check the placental flow around 32 weeks - I did this privately as read many stories about potential placenta issues with low PAPP-A)

Hi. Just went through my notes! It says essentialy normal heart. In some views only hole is seen and in some no hole. I saw same in the monitor! And it says that due to small baby the main concern is increased risk of chromosome anomaly. Ptherwise excelent outlook. Therefore I am confused as I spoke with cardiologist and midwife afterwards and both said it's just a small baby! So little bit confusing!
Rescan at 30 weeks, though I am booked for another at 28 and 30. Will check on friday whether 28 is cancelled , will ask not to!
Thank you for saying about low paap-a! I was reading that some girls needed to deliver at even 36 weeks due to placenta issues. I had my first at 38 weeks and do not think will go more far with this one.

That's good news. My healthy son had a VSD visible in some views and not others it was gone when he was born and over 90% of babies with Edwards have cardiac issues on scan so that reduces your risk so much.

Hoping just a small baby then and looks like they're monitoring you closely.

Hi,

Called at 8am this morning to say I want to cancel my amniocentesis and do NIPT instead and they refered me to midwife who said to think once more as NIPT would not cover everything while Amnio would.
It's just sooo frustrating!
I tried to get hold of my midwife and now just waiting for her to call me, hopefully she will! I have whooping cough vaccination today so thinking to cancell it as it looks like we will go with amnio. Want to talk with midwife so much. Also I have very bad pubic bone pain and concerned about it.

The NIPT isn’t a diagnostic test. It will analyse the fetal dna in your blood but it is really really accurate. I suppose you need to ask yourself whether you’d want an amnio to be sure or whether you’d trust the results. Both ways. My NIPT came back with a 1:15 result of edwards the other chromosome abnormalities were 1:100,000,000 so that was the difference. I still had a CVS to rule out placental mosaicism which was positive for edwards syndrome. I guess if you’d have the amnio anyway particularly with results like mine you may as well jump to that.

Hi KTD27. Thank you for your message.
Sorry to hear about your results, it's just si sad and stressfull to go through all this.
Yes I would do amnio if NIPT would be bad so kind of staying with amnio now.
Just talked with my midwife and she reassured me that when they do amnio they do all they can to prevent miscarriage and are professionals in doing this. Also she agreed on cancelling whooping caugh vaccine which I did.. therefore now just left to wait for tomorrow morning amnio test and results hopefully will be ready for monday or latest tuesday.
I think I will go insane during the weekend, it's just too stressfull.

Oh love I absolutely sympathise. The waiting is horrible. Just try to relax as much as you can and the time will pass. Fingers crossed for you.

Had amnio a couple of hours ago. Was not too bad. They took mine and husbands blood as well. Just resting now. Latest tuesday afternoon we will know and full results in two weeks. Just praying for the best now.