1:12 chance of Edwards / Patau syndrome

[Jen306]

So after having our 12 week scan earlier this week I received a phone call saying that I was found to be high risk of Edwards / Patau syndrome (low risk for Down’s syndrome).

The scan seemed to go well and they didn’t seem to spot anything problematic I assume they would have flagged this if they had. The nuchal measurement was good (1.8 I think).

I know my age also bumps up our risk factor both in real terms and in the stats base line to calculate the risk (I'm 36).

The NIPT is booked for first thing on Monday and are paying extra (could have had it on NHS) to have the results back quicker.

I know it’s just a risk factor, baby might be fine. I know if you talk % rather than 1:12 it doesn’t sound so terrible.

I switch between feeling positive, feeling like we don’t know for sure yet it’s just a risk statistic and it could all be absolutely fine to I can’t help but feeling it’s like a forgone conclusion and that I’m just waiting for terrible news to be confirmed and our world to crash down.

Not really sure why I’m posting here, I guess if anyone has a similar experience, advice or things I should ask on Monday?

TIA
Jenna xx

@GemboLakin sorry should have said my 1 in 3 is down syndrome 1 in 38 edwards very scary odds x

@FairyPixie1983

I’m the same I feel like everything’s on hold until I get the phone call which I’m hoping will be tomorrow as that’ll be day 7. I don’t like talking about baby or making any plans incase the worse needs to happen which makes me feel so awful and such a bad person 😔

My Papp-a is low as well at 0.3 but my hcg is within the normal range, the midwife has put me on aspirin and I’ve got my 16 week check up on the 18th but I feel like absolutely everything is on this one phone call I’m going to get, I don’t know what I’ll do if I have to book the needle test (sorry I don’t know how to spell it) because I’m terrified of having a miscarriage. It’s the worst feeling I’ve ever had and trying to stay positive is getting harder the longer I have to wait 🥺 when did you have your NIPT?

@FairyPixie1983 for Down syndrome mine is 1 in 5000 so it’s the edwards and pataus that worries me so much but then I think they might of got it wrong with the DS as well 😣 I just want this phone call to happen so I know what’s going to happen next because I just want to enjoy my pregnancy so much xx

@GemboLakin
I totally understand how you feel
I went for the nipt on Friday so I have a wait yet but I'm also booked for cvs Thursday to try again the nipt was incase they can't do the cvs again this week as my placenta was in wrong place last Thursday and I know if it's the same again this week I'd be distraught being no further forward but then there is also the worry on top I could be risking that 2 in 3 baby that is fine so it's so scary 😔
I feel like a awful person and I keep trying to tell myself I'm probably not having this baby to put up a wall incase the news is bad
When I went for nipt Thursday I had a bit of a meltdown seeing all the heavily pregnant women on maternity and had to be taking into a side room
Fingers crossed you hear soon and get good results xx

@FairyPixie1983 sorry to hear you had such a tough time at the hospital 🥺 it’s really hard isn’t it

Please let me know how you get on and I’ll let you know what my results are I’m keeping everything crossed for both of us 🥰💜💜

@FairyPixie1983

I've just had the phone call and it’s good news I’m low risk for all 3 thank god! I’m shaking with relief! 🥹

I hope you get the same results 🙃💜💜 please keep me updated ☺️xxx

@GemboLakin
Aww so happy you got those results
Least now you can enjoy your pregnancy but what a awful stress at the start I wish I'd went for private nipt not combined screening tests now xx

@FairyPixie1983

Thank you ☺️ I had my NIPT through the NHS did you not? Sorry if I’m getting confused

I hope I never feel that stressed and worried ever again it’s been really bad xx

@GemboLakin I am so pleased to hear you got such amazing news, what a relief!! I hope you enjoy the rest of your pregnancy xx

@FairyPixie1983 sending lots of positive wishes your way and I hope you get your call very soon xx

@Essex1512 thank you so much 🥹💜💜 xxx

@GemboLakin I'm waiting for the nipt results bloods took last Friday
Wasn't going to do nipt just cvs but when they couldn't do cvs i went for nipt
Just this long wait now xx

@Essex1512 thank u xx

@FairyPixie1983 I’ll keep everything crossed for you and I’m thinking of you ♥️♥️ I know it’s annoying when people say it but try and stay positive 😌💜 xxx

Hiya what was the outcome in the end?

im in a similar position waiting for NIPT results :(

@ashrenaex mine wasn't a happy ending but mine was 1 in 3 for down syndrome and 1 in 38 edwards I'm 39
My nipt was high risk also so I trust that result is accurate so I'd wait till you get that as many people with high odds screening went onto have low risk nipt and everything fine.
I then went for amnio after not being able to get cvs twice and unfortunately miscarried at just over 15 weeks 2 days after the amnio not sure if that caused it or if it was cos amnio confirmed my son did have down syndrome
It's been a traumatic time one I wouldn't wish on my worst enemy
But the majority seem to turn out OK we were just that unlucky 1 in 3 x

@FairyPixie1983

I’m so sorry to hear this 💔🥺

Thinking of you 💜💜💜💜

@GemboLakin thank u
It's been such a tough time and now husband refuses to try again and that has broken my heart even more 💔 xx

@FairyPixie1983 your situation sounds so similar to mine. We lost our baby who was high risk for Edwards Patau but also had large nuchal reading . Baby passed away just before cvs at 14 weeks. We had post mportum and baby had very rare condition Tetrasomy 9p :( worst experience of my life the whole thing. I am having counselling now x please look after yourself

@FairyPixie1983 oh and same with not wanting to go through this again from husbands point of view … I’m also not sure I what I want

@ACEC19 I'm so sorry
Totally understand the pain u must be feeling too as this is one of the worst things that's ever happened to me and I think it will take a while to recover and maybe I never will totally
Maybe I need counselling too it is something I'm thinking could help
I can't seem to go a day without crying since it happened
I feel desperate to try again Husband is refusing which is causing arguments
Maybe for me I feel like I need to replace this empty feeling I have :( xx

I am currently 13 weeks 4 days,
I have been given the devastating news that my baby girl has a 1:2 chance of edwards and patau. This has gone on my bloods and age I’m assuming (I’m 32) as the scan showed no abnormalities ( I have had my 12 week scan and a private scan 2 days ago) both showed low fluid.
I have had my NIPT Tuesday just gone but going out of my mind with worry 😢
has anyone had a positive outcome with such high chance results?
x

@CBish I am so sorry you're going through this, I think everyone on this thread feels your pain right now. Dependant on your results from your NIPT have they said you can have a CVS test? Or wait until 16 weeks to have an amniocentesis? My odds were 1 in 14 but as there were no abnormalities on the scan they said rather than do a CVS, to wait a bit longer and do an amnio.
Have you had your report from the 12 weeks scan to show you what your Papp-a level is?

They didn’t give me figures but said my Papp was low. The lady scanning me had no concerns at the actual scan. So results must just be bloods.
The midwife said based on what comes back I will then have an amnio I believe.
I just feel I have no hope because of the 1:2 chance x

@CBish I think I may have seen my Papp-a levels at the scan following my 12 week one.
Amnio is done from 16 weeks onwards as they take a sample from the amniotic fluid. They may offer you a CVS test which is the same procedure but the sample is taken I think from the placenta rather than the fluid (as before 16 weeks there isn't much fluid) but if nothing has shown on your scan (then like me they might advise you to wait to get 100% accuracy)

There is an amazing charity called 'arc' which may be something you find useful. They are lovely (can give them a call) and provide some information and you can ask lots of questions.

I really hope your NIPT results come back soon so you known what your next steps are lovely. Sending lots of love your way and positive vibes

Hi OP,

Just wanted to ask how It went for you? I'm in a similar position right now. Hope all is well! xx