High risk after combined test

[FairyPixie1983]

High just wanted to hear from anyone who's had this
I'm 39 nearly 40 and have just had the phone call off my midwife this week to say my combined tests had came back as 1 in 3 for down syndrome and 1 in 38 edwards
I can't sleep I keep crying and googling everything
I know age is higher risk but I'm so confused with results as my paper said age chance 1/119 which to me would put everyone my age higher risk yet I know quite a few people who had children older than me over the last few years and didint come back high risk so I don't get it if it says age alone 119
My papp a was low 0.28
But hcg was also a little low 0.78
Nt measured 2.7mm which I was told was normal range and nothing else picked up on my 12 week scan .
I opted for the cvs as I didint want another high or low risk for nipt test although I know they say its more accurate
But I went for cvs Thursday and they couldn't do it due to where my placenta was he said the risk of miscarriage would be too high I was so upset cos I feel like I'm in limbo
They have rebooked me to try again this Thurs but I went for the nipt yesterday aswell incase they can't do the cvs when I go again Thursday which he said could happen
I am utterly heartbroken over this because my screening midwife said with my odds it usually turns out baby is affected and when I went for cvs she seemed to say same that they have the odd miracle but usually baby is affected
I have decided I won't continue a pregnancy if baby is affected which makes things even harder but I have a cousin with severe downs and I know you can't predict how affected they are but I know how hard things have been for him and his mum.
But the thought of a termination absolute breaks me

Very sorry to hear this for you - that is very tough

Do the nipt test it's extremely accurate and no risk to baby and you'll know one way or the other- don't terminate without doing that test

Sorry I just re read - await the results of nipt they are really accurate and unless that comes back positive I wouldn't risk the amniocentesis

So sorry to hear you’re going through this worry @FairyPixie1983 :( I had a similar outcome from the combined screening - I was 38, almost 39. Papp-a and HCG similar levels to yours. Our son’s NT was 4.7mm though…. I was given a ‘greater than 1 in 4 chance of T21’. It was such a worrying time but they couldn’t find anything of concern - my NIPT was low chance, I then had an amnio (they couldn’t do a CVS with me either but we decided on further testing because of the increased NT) and that was clear. Our boy arrived safe and well and we never did find a reason for his high NT…. So hang in there - there’s definitely still hope. Thinking of you - how long until you get the NIPT results? Xx

@jmm499 thank you
That does give me some hope cos at the moment I feel like I have separated myself from my baby in my head incase we are the 1 in 3 😔
They took nipt yesterday she said usually around 10 working days which is hell
It may end up if they manage to do the cvs Thursday that that comes back before the nipt as she said 2 days for cvs
I'm so glad you got good news it's so scary
Can I just ask did your midwife say as if your odds gave you a definite diagnosis?
I feel like mine is convinced it will be bad news which has made me feel like its hopeless xx

@FairyPixie1983 yes I can really relate to all you’re saying…I felt disconnected too and just so traumatised. I remember those dark hours of the night Googling for some answers 😭 And even a day was too long but 10? It feels impossible doesn’t it? I’m sending you so much love and strength ❤️ The high NT was actually picked up at the NIPT scan at 11 weeks for us - so we knew there was something possibly of concern then. We then had our NHS scan and screening results in between which just made me worry more as I waited for the results 😩 Our screening midwife was actually really reassuring and said it was just that - numbers that didn’t necessarily mean anything until a diagnostic test. She said she’d had a couple who had a 1 in 2 chance for their baby and they had a ‘normal’ number of chromosomes so nothing was a given. I did have an unsympathetic doctor at the attempted CVS who warned me not to be reassured by the NIPT (I’d had those results by then and did feel some reassurance) particularly with the high NT. I felt so gutted coming away from that appointment - I knew it couldn’t be completely relied upon but the way she told me felt very cold. It was such a traumatic time - I remember it so well (it was end of 2019 for me). If you want to chat at all, I’m more than happy to - just DM me. Really hoping for the very best for you and your baby xxx

@jmm499 thank you so much xx

Hi @FairyPixie1983 , so sorry you are going through this. But I don’t think your midwife should have told you it was almost a given, that’s not correct!! I had a 1 in 2 chance from my screening (high NT 4mm, I’m 38) - but it was made explicitly clear to me by the screening midwife and by my foetal medicine consultant that it’s just a crude formula where they put some numbers into an algorithm and it spits out a number. they were clear that it isn’t a done deal and my NIPT subsequently came back low chance (less than 1 in 10,000). I haven’t had an amnio yet but I’m now 22 weeks and all scans and echocardiogram look normal and fluid has resolved, no soft markers for DS either. My consultant has told me to forget about 1 in 2 as NIPT is more accurate - it is just a screening (and can be wrong of course) but he said it trumps the combined screening. So please don’t lose hope yet. I can’t tell you whether the NiPt was correct for me as I haven’t had my baby yet and I wish I had done invasive testing sooner so I had more certainty but things are looking ok for now.
have you called ARC? They were really helpful for me breaking down why I was high chance (both my pregnancies have been high chance for Downs - my son had a 1 in 29 chance and he didn’t have downs). I don’t know if it helps but when I spoke to them they told me that in a typical Downs pregnancy, you’d expect to see HcG levels at least double what the norm is, or even higher - yours appears to be almost average, if not a bit below. Your Papp-A is low which also brings the chance higher apparently, and so will your age and slightly higher than average NT measurement (but still within normal range!). I would call them and talk it through with them, they are great.

@Bloodystressed1 thank you for your reply
I've came out of work in tears again so it gives me some hope reading this
I think I will call arc as I'm really struggling to deal with this
My midwife really made it sound like without a miracle it's almost definite
Everything i read says hcg over mine is a little under which is why I don't understand how I test high both conditions the whole thing just has me so confused and stressed
I wish I'd went straight to nipt even if it had been done privately cos this test has caused me nothing but stress and I still have no real answers xx

I had a high chance combined screening (1 in 38 for Edwards and Patau’s). Both my PAPP-A and HCG were low (0.20 and 0.25). The NIPT was low risk and I’ve had quite a few scans with no soft markers. I’m taking aspirin daily for the low PAPP-A and I’m now 18 weeks. It was the worst experience ever. I really feel for you.

@SJG1987 I'm on a Facebook page for low papp a and surprised how many women have been through this with combined screening test many with odds under 50 and a few 1 in 2 so I'm praying 🙏.
It's one of the most stressful times I've been through in my life and can't be good going through so much stress during pregnancy 😪 with hindsight for my age 39 i wish I'd just went for private nipt first but you dont think things like this will happen x

Have been for the second time for cvs this morning and again couldn't do it
I am absolutely distraught
As it means another week of mental torture when I've been told it's highly likely there is a problem
Booked for the amnio now instead next week it's the unknown that's making me feel unwell
I think I have resigned myself to the fact if there is something wrong I can't change that but because I wouldn't go through with an affected pregnancy I just want this all to be over if it turns out that way

@FairyPixie1983 so sorry they couldn’t do the cvs again. I’m still in the same limbo as you, but every time they do a test the odds get worse. It’s over 3 weeks since I had the first call :-( had an amnio this week after abnormal cvs, at this stage I have a 1% chance the baby doesn’t have it. The waiting is torture I agree. I’m just trying to keep myself distracted and spending lots of time with friends and family. Hope you get an answer soon xx

@Claire12098 I'm so sorry you are in that position
I assumed cvs just gives you quick answer I would never have imagined then having to have amnio on top And wait again
The waiting is really affecting me I think I have actually decided in my head although I don't want bad news I'd rather just know either way now cos I can't take the constant what ifs and not knowing
He said although the placenta had moved today there was a risk of perforating my bowel for whatever reason but I couldn't stop crying
He did say amnio will definitely be done next week but he has to wait till then as I'm 14 weeks today and has to be 15 .
I feel like I'm in a living nightmare in what should have been a happy time
Think I need to try and keep myself busy this week too
It does now mean I am gonna get the nipt result first as I had that done last Friday as a back up incase they couldn't do the cvs so now i will get that first xx

@FairyPixie1983 yes I think I’m the same as you on having decided and I totally get what you say about being in a living nightmare. The scans are the worst, I find them so traumatic, even more so that my baby looks normal on the screen, crazy as that sounds. I’m glad you had the nipt - that’s pretty accurate, although it was the result that devastated me the most as I went from greater than 1 in 2 chance to 90-95% chance. However once I had it, I had to move to start to accept the likely bad outcome so it should help you move forward - it starts to remove the what ifs you mention. And you never know, it might turn out ok! I really hope it does for you, am crossing my fingers xx

@Claire12098
I'm glad I had the nipt now to give me something during this wait although I'm terrified of the result
I didint look today on the scan
last week I did but I can't bring myself to today cos then I feel guilty because I don't want to continue a pregnancy if its confirmed
It's strange tho it's like I no longer feel pregnant maybe it's that distancing myself
I pray both our babies are OK
this is one of the worst things I've been through in my life tho I know that 😔 xx

@FairyPixie1983 i was the same on the scans, and then you feel all sorts of guilt/rejection towards the baby, it’s awful. It’s really hard. I have totally distanced myself too. But I do think don’t lose hope yet in your case - it’s good to be realistic that it could be a bad outcome but the nipt may turn out fine. It’s definitely the worst thing I’ve ever been through, wouldn’t wish it on anyone. And prolonged waiting because of cvs challenges just makes it harder. Thinking of you xx

So so sorry you are both going through this still. The wait is just torturous and the worst bit of it all, especially whilst you feel the baby growing inside you and it consumes your thoughts all day and night. Good luck with your amino @FairyPixie1983 and really hope you get a low risk NIPT in the meanwhile, but I definitely understand assuming and accepting the worst for now. Awful that you are still waiting for answers too @Claire12098 - do you know roughly when you will hear the results?

My nipt has just come back high risk 90% I'm absolutely heartbroken 💔

@FairyPixie1983 so sorry it wasn’t the news you wanted. Thinking of you xx

@FairyPixie1983 I'm so sorry, thinking of you 🌸 xx

@FairyPixie1983 I'm so sorry 😭 can you have cvs or amino still? As that will be 100% accurate. I have my amino tomorrow and am dreading it

I’m so sorry you are going through this x

I'm booked for amnio next week but I feel its only prolonging this cos I know the answer 😔xx

@FairyPixie1983 I’m so very sorry for you