1:2 chance of DS - amniocentesis test pending

[Sherlock30]

Hello

Not entirely sure why I'm writing this other than to get the situation out my head and in text

We received the results from the combined screening and its 1/2 DS and 1/88 edwards/patau

Obviously this has knocked us and we're now waiting for a date for the amnio test. We're going this route because advised that the nipt would potentially deliver a false negative due to my levels and the CVS may not be possible because of where my placenta is sitting.

My bloods results are confusing
Hcg 2.32 mom
Papp a 0.14mom
NT 0.91

So clearly pap is low, hcg is high and NT is fine.

I'm trying not to be too hopeful but my papp a was low when I was pregnant with my daughter
And the hcg being high I'm wondering if this could be due to having a miscarriage before this pregnancy and never having a negative test between pregnancies (long story but had medical management for retained products which turned out to be a new pregnancy)

I'm 35 so obviously age is not on my side either.
I'm just struggling with how high this ratio is.

I don't know what I'm after here but I've been reading through previous posts for reassurance so I will update whatever happens.
I'm trying to think about this practically rather than just sobbing

Thanks for trudging through this mega long post
💜

I’m thinking about you.

That sounds very difficult, OP . Hoping for the best for you.

so sorry you are going through this, i had greater than 1:2 last summer and it was a truly awful time of tests and waiting. I have so much sympathy for anyone going through it. However, it did turn out to be fine for me and my little boy is 8 months now, no t21. I was like you with a normal nt and the blood results and age creating the high chance score - my hcg was 7.7 I think so kind of off the scale and my Papp a was 0.27. I read so much about it and the screening tests are a bit of a statistical black box, so keeping my fingers crossed for you. Also I think it’s good you are going straight for Amnio as it will give you the most conclusive answer. Both nipt and cvs said abnormalities for me but by some miracle the Amnio was normal. It’s not an experience I will ever forget - sending my best to you x

Thank you so much for your reply.
It feels very isolating as looking for people in a similar situation to me and yet the the 1 in 2 seems so rare to come across
I'm so pleased you had a happy outcome.
I'm still waiting on my amnio date at the moment will be at least over a week away as I'm 14 weeks today
I'm hoping it's just my bloods are wacky.
They were like this with my daughter but I had a 1 in 3000 screening so this seems so out of the blue.
I feel like I have so many questions but also don't have any at the same time.
Just trying to ground myself thinking it's not a diagnosis it's just a screening at the minute x

Your age is also a factor in the final score.

High hCG is quite common and it’s not really understood why it happens. I think I’ve read sometime ago it’s more common when carrying a girl.

the verily low Papp-a has had the most influence on the high score. I hope they have started you on aspiring.

i had low Papp-a, higher hCG, have 2 DD and I’ve started the aspiring at week 12 if I remember correctly. And I know if you start after week 16 it’s too late, and the closer to 12 the better, to have the most effect and prevent static growth (had this with 1st DD, but I started aspirin in week 16 bc back then they didn’t know you had to start it much earlier) and preeclampsia and other risks.

try to distract yourself as best as you can, do the things you love, pamper yourself and I hope your amnio goes well

Thank you!
I have been told I have a prescription for aspirin a week or so ago but it hasn't materialised yet so I'm taking the recommended dose same as I did with my daughter as I had low pappa with her too.
I had my amnio done today, so now I'm onto the last stage of waiting
Been doing my best to find distractions, any good series recs? Haha
Thank you for your reply really appreciated

@Sherlock30 i hope you get your results back soon , the wait is horrid .

@2chocolateoranges thank you, it really is! How are you meant to just crack on with the day to day? My brain is all over the shop

Mine was 1 in 15 back in 2017 and it was really a very scary time, so I'm thinking of you.

Mine was 1:25 just this past July. Ended up doing an amnio and thankfully everything was clear, but it was so stressful and worrying.

I know what you must be feeling, so just stopping here to give you a big virtual hug of support. Whatever the outcome, the process is brutal, so just try to take care of yourself through all this.

Your NT measurement is very hopeful. If this was also high I think there'd be a real cause for concern.

Wishing you much luck

@genesis92 thank you
I'm hanging on to that NT measurement for dear life

Thinking of you. Hope you get the results you want.

Thinking of you - the wait really is awful, I feel sick just remembering it. I hope you get an answer soon - keeping my fingers crossed that the normal NT and scan are indicating all is ok. I can’t even offer any advice on how to distract yourself, when I was going through it I literally felt like I’d exhausted Google on the topic. I took time off work after too even when it came back normal as the whole thing is such a lot to process, so might be worth thinking about that if not already. Take care x

@CB1209 thank you I do appreciate the support so much
I think I've done the same, searched every variation of the same phrases and read so much. I know I'm probably only stressing myself out more but it feels like its all I can do and I like to feel like I'm doing something. Taking my mind off it is impossible so just going with it.
Hopefully I hear from them on Monday.
I think I'll maybe take a few days regardless of what the outcome is because I'm exhausted x

For anyone reading this in the future as I have been reading these 1:2 stories for comfort and also realistic outcomes
Unfortunately for us we have had a confirmed diagnosis of T21

I'm sorry to hear you didn't get the news you were hoping for. I'm sure one day your post will be helpful to someone else and it is lovely that you were thinking about that at a difficult time.
I have no practical advice but I hope you have some good support around you. No doubt there will be people here who have had similar experiences and can give more useful advice.
I did have an antenatal diagnosis once but it was for a very different condition so the details are not relevant here. I do remember the emotional rollercoaster though and also the difficulties of talking about it as our parents especially were dealing with their own emotions so although well meaning were not necessarily the best people to talk to. Try to look after yourself.

Oh @Sherlock30 im so sorry you didn’t get the news you had hoped for.

I hope you have the support needed to process this outcome before you have to make any decisions .

I'm sorry you didn't get the result you want. Hope you are surrounded by love and support.

@Sherlock30 I wanted to reach out; I know you must be devastated right now and if you have made the decision to end your pregnancy then I wish you peace and a smooth experience. If you are undecided, or wish to continue your pregnancy then I'd be happy to chat, here or by DM. My own experience of continuing a DS pregnancy as follows - don't read if that's not where your head and heart are right now.

At my 12 week scan my combined score came in at 1:3 for DS - I was offered the amnio/cvs but refused, and though it was still in the trial phase was offered access to the NIPTy which I accepted. A couple of weeks later it was confirmed that my baby has DS. I decided to continue the pregnancy and armed myself with as much info as possible - I looked at the Down's Syndrome Association website, the Future of Down's Facebook page and reached out to my local DS support group too. My daughter is now 8 years old and a happy, healthy child who loves life.

I’m so sorry you didn’t get the result you were hoping for, am thinking of you x

I have a child with Down's syndrome if you have any questions.