High Risk from combined screening NT and Bloods

[Justahopefulmum]

i feel so alone right now.. I had my scan last week and all seemed okay, they actually changed my due date forward to 3 days earlier to what I had worked out.

as I was told I was 12w4days id shared the news with a few people too, then Monday I had a call from the screening team who advised I had a 1:2 DS and 1:50 of E or P. This come as a huge shock as I have a 16 month old with no issues and my results with him where 1:6800 DS and 1:47000 for E or P. I’m absolutely heartbroken as I was also told I have low Papp A 0.3 and my blood work were nearer 2+ rather than near the 1.0 they should be. I was told there was issues with babys growth and this seems conflicting when my due date was changed forward?

I was advised we can have amino for another 2/2.5 weeks which feels cruel to wait in limbo so I’ve opted for NIPT in the interim and if this comes back low risk I think we will pay for a private amino too for additional reassurance.

has anyone else had these odds? What was your decision/ outcomes? I don’t know anyone that’s been given bad results and I’m not wanting to talk to friends so I feel so lost and alone. X

Hi, I'm currently awaiting results from the NIPT. I have no advice as I'm completely crushed but didn't want to leave your post unanswered.
It's just horrendous isn't it, there's no explaining it.

My risk came back as 1:6 NT measurement 2.3 and I also have low Papp A.

I haven't gone for the cvs but may do to get a definitive result sooner rather than later.

For now I just can't stop crying.

Sorry I can't offer a positive result but I'm here for a hand hold xxxx

I'm really sorry you're going through this. I'm waiting for nipt results at the moment and it's incredibly hard. It sounds like you haven't been given much information, did you get to speak to someone? I was called by the fetal medicine team (I think that's what they're called) and gave me all the information and when I went in for the nipt they went through all of my additional questions. Sending a big hug to you and also @alotoftutus

Sorry to hear you’re in the same position, we should hear back by Monday/Tuesday but if that result comes back as low I was told that it’s still not definite as it could be the placenta isn’t effected but the baby is. So we will then have to pay private for amnio. It just all feels so strange and I’m starting to feel so detached from the pregnancy 🥺x

I got the call to tell us in the morning was asked to go in to hospital for more conversation same day, to be honest I couldn’t really think whilst sat there was offered the nipt there and then which I took. But I’m not hopeful of the results, I feel like our worlds come crashing down, where we should be telling everyone I feel like I’m hiding it all away. X

@Justahopefulmum you should be able to get the cvs test and amniocentesis on the NHS you don't need to have it privately if you decide to go down that route.

I am so undecided about the cvs. Part of me is just desperate for a definitive answer one way or another, but I don't want to risk miscarriage and it turns out everything was fine. I just don't know if my NIPT comes back low risk will I be positive enough in the result, I think If I get that far I'll be an anxious the entire pregnancy.

It's just so painful and overwhelming isn't it.

If you weren't told about it the arc website is really helpful. You can also call them for a chat / cry

I was told the most definite test is the amnio as the cvs and the nipt are from placenta dna rather than the baby’s. I was told if we have a nipt and it comes back low risk we are not eligible for further funding for anymore testing so would have to pay for the amnio privately. We decided we couldn’t wait another 2.5 weeks for the amnio, in limbo so have gone with the nipt there and then so if it comes back low risk we wouldn’t be satisfied and would want an amnio but we’d have to pay. Where we felt it it comes back high risk we have our answer.

the midwife told us it’s quite low risk have the test done but they have to inform you of risk, my mum had one years ago and my brother was fine, I think it’s more the actual procedure I’m scared of. X

I had 1:3 for DS. I opted for amnio and everything was fine.

@polmnlj really, bless you. Did you spend the rest of your pregnancy still worrying? Did you have low Papp a too? X

No I didn't worry after that. Yes low Papp. I got pre clampsia at 36 weeks.

@polmnlj but you made it to term ? Was your baby born a low birth weight? X

I was induced then and baby was size of 36 weeks old

Gosh where I am (West Hertfordshire) I am able to take the CVS or Amniocentesis at any point, before or after my NIPT results arrive.

I think however having a definite answer would definitely put my mind a rest so worth the money even if i wasn't able to access it via the NHS.

How are you doing today?

@alotoftutus i think I’ve sent you a private message but not sure if I’ve done it right x

@Justahopefulmum I can't see one. Let me try and message you and see if it comes up that way x

@Justahopefulmum I found it's

How are you @LittleBlue222?

I think I had a mini panic attack last night. I've never had one before but was in bed and was actually feeling ok. I think I had been distracted by the death of the Queen so my mind wasn't all consumed with results etc. Then all of a sudden I just burst into tears and couldn't breathe. I started hyperventilating and couldn't slow my breath down it was horrible. I leaned out of the window and froze myself back to normal.

I'm generally ok in the day (ish) I have 4 children to look after that keep me busy. However as soon as they are asleep I just break down. My husband doesn't really know what to say and although he's trying he can't make it better which is frustrating for both of us.

It's just so rubbish isn't it :(

Unfortunately today I received the news I have been dreading that unfortunately my test has come back High risk

I’m so sorry you got the high risk. I’d still go for cvs or amnio to make sure, couldn’t this result be from placenta only? (A vanishing twin scenario). You should get it through nhs now.

CVS would still be placenta and amnio would be another 1.5 week wait minimum and I’m not sure emotionally I have the energy to take anymore I’m heartbroken

Sending you strength x

@Justahopefulmum I'm so sorry you didn't get the news you were hoping for.
How are you holding up?

Had you already decided what your next step would be if this was the outcome?
Here to support whether you decide to continue the pregnancy or not. An excruciatingly painful decision to have to be faced with.

Hope you have lots of love around you right now xxxx

@alotoftutus thanks, we had agreed if this came back high we would be unable to continue with the pregnancy in our current circumstances but since I got this news yesterday I’ve been in 2 minds about the amnio, I just don’t want to prolong the process when I have already had 2 sets of high risk results

have you heard back yet? X

Hi @Justahopefulmum
I'm so sorry your results came back as high risk. I would second talking to ARC, they got me through the darkest time of my life.
When I was 23 weeks pregnant we discovered our baby had interupted aortic arch and 2 weeks later we found out daughter also had digeorge syndrome. It was with utter heartbreak that I had a tfmr at 26 weeks. We had waited years for her, she was an IVF baby and I couldn't believe I had to make that decision. But she would have spent months in hospital and given the 2 conditions there was an incredibly high chance she wouldn't make it home. If she did we were looking at life long physical and mental disability.
Our little girl died in March and I won't lie there has been many a dark day since then. But I know in my heart that I could never have watched my little girl suffer that life. I could never have watched her connected to tubes and wires and have infection after infection and seizure after seizure and know I could have spared her it.
You can only do what feels right for you in this scenario, in terms of having an amino I think that depends on whether you need that answer or not. There's no right or wrong to it. This is the worse decision you will ever make. It doesn't even feel fair to call it a decision because you feel so backed into a corner with no good options open.
We chose not to have a post mortem because it would never have given us a full picture of what her life would have been and I just wanted my darling girl left in peace. For us that was the right decision. But I know others need to know. So as I said no right or wrong. Only what you can manage at the time.
If you have any questions please feel free to ask them or PM me.

There are 2 sets of high risk assessments. You don’t have a diagnosis.

I know you’re under a lot of stress and in a lot of pain, I’m just thinking if I were you, when this stress settles down, months from now, that I won’t regret never have known for sure.

but if you don’t think this is going to happen, then I agree, you probably won’t hear a different diagnosis, I’d just be doing it for my peace of mind