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Original poster

1:12 chance of Edwards / Patau syndrome

49 replies

Jen306 · 04/02/2023 06:57

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

OP posts:
Surprisepregnancy1 · 04/02/2023 20:57

Hey there. Sorry to hear you are going through this. It is understandable that you are switching between being positive and thinking the worst.

My experience is a bit similar. I had a high nuchal measurement at the 12 week scan so went for NIPT at 13 weeks and the amnio at 16 weeks, and then detailed heart scan at 17 weeks, and then the 20 week scan. It has been such a rollercoaster. It’s been one step at a time until the 20 week scan really. But all tests were normal and the 20 week scan was fine, so the chances of a problem now are apparently around 3% which is the same as for any pregnant person.

The NIPT is just a scan and a simple blood test. The only thing to consider in advance is whether you want to know the sex of the baby. You can opt in or out.

Wishing you well for your pregnancy. Sending up a wee prayer for you and baby.

TheShellBeach · 04/02/2023 21:01

So sorry you're in this position.
I'll keep you and the baby in my prayers.

ACEC19 · 04/02/2023 22:31

I’m going through a similar thing at the moment, same as you up and down with positive and negative feelings .
1:5 chance of Edwards /Patau
1:43 chance Downs .
also an older mum; 37 next month
had High NT (6:3mm) measurement too-
bloods - something came back low …not sure what!
awaiting a CVS next Tuesday. The screening midwife felt this was better than going for the NIpT .
I’m also having the same thoughts about % .. and how accurate can it be but I’m preparing myself for the worst at the moment .
I hope you get some positive news…. It’s good that your NT was a normal level :)

Original poster
Jen306 · 05/02/2023 07:23

Thanks for replies everyone.

@ACEC19 Sorry you’re going through this too it’s a horrible situation.

I think just feel a bit lost.

OP posts:
ACEC19 · 05/02/2023 09:10

@Jen306 I know. The waiting is agonising . I hope you get some good news

I should hear by Thursday x

Original poster
Jen306 · 05/02/2023 09:50

It is fingers crossed your news is positive too.

We should get results back by end of the week from the NIPT. I think even if that comes back low risk it’s going to be a very anxious wait for the 20 week scan. And if still high risk
result think we will then have an amnio.

I guess just have to take it all one step at a
time.

OP posts:
ACEC19 · 08/02/2023 09:58

Unfortunately not good news for us, didn’t get as far as cvs. The baby’s Fluid had increased; said it was cystic Hygroma & baby has passed away In the last week.
xxx

Carlycat · 08/02/2023 14:10

ACEC19 · 08/02/2023 09:58

Unfortunately not good news for us, didn’t get as far as cvs. The baby’s Fluid had increased; said it was cystic Hygroma & baby has passed away In the last week.
xxx

Hugs Flowers

Essex1512 · 08/02/2023 14:45

Hi @Jen306 i am in a very similar position to you right now, 12 week scan all looked ok and then got the call to say low for downs but high (1 in 14) for Edwards/Patus - queue a LOT of tears! I am booked in for amnio and it's now just waiting game. Not that it was raised but i noticed on my report my papp-a a is low at 0.1 and it was only me ringing the hospital at a later date to say i've heard low papp-a patient should go on aspirin. Not sure if that could be a reason as to why i've been flagged (along with my age of 36) as NT measurements were 1mm. It's such a worrying time isn't it but i have everything crossed for a positive outcome for you x

TheShellBeach · 08/02/2023 15:17

@ACEC19 I am so sorry to read this about your baby. Sending love and great sympathy.

Surprisepregnancy1 · 08/02/2023 19:45

@ACEC19 this is so sad. Sending love x

Original poster
Jen306 · 09/02/2023 20:14

ACEC19 · 08/02/2023 09:58

Unfortunately not good news for us, didn’t get as far as cvs. The baby’s Fluid had increased; said it was cystic Hygroma & baby has passed away In the last week.
xxx

I’m so sorry to hear this. Sending love and best wishes.
I’m still waiting on NIPT results was hoping to hear today so hopefully it’ll be tomorrow because if not will be next week now.

OP posts:
Original poster
Jen306 · 09/02/2023 20:20

Essex1512 · 08/02/2023 14:45

Hi @Jen306 i am in a very similar position to you right now, 12 week scan all looked ok and then got the call to say low for downs but high (1 in 14) for Edwards/Patus - queue a LOT of tears! I am booked in for amnio and it's now just waiting game. Not that it was raised but i noticed on my report my papp-a a is low at 0.1 and it was only me ringing the hospital at a later date to say i've heard low papp-a patient should go on aspirin. Not sure if that could be a reason as to why i've been flagged (along with my age of 36) as NT measurements were 1mm. It's such a worrying time isn't it but i have everything crossed for a positive outcome for you x

Sounds very similar. Yes I’ve been put on aspirin because of low Papp-a and been told that combined with age was the reason for the high risk result but could just mean low Papp-a not the syndromes but it’s a bigger risk indicator for them. Our scan and other measurements were fine.

We opted for NIPT first but in someways the amnio tells you yes or no more concretely so partly wishing we’d done that too but just waiting at the moment!

Fingers crossed for you!

OP posts:
Essex1512 · 10/02/2023 08:40

Fingers crossed you hear really soon @Jen306 keeping everything crossed!

Original poster
Jen306 · 10/02/2023 21:20

Still no news. Rang the hospital to check if results had come in but they hadn’t yet. Feeling frustrated as we were told end of the week and paid to get results quickly and yet it doesn’t feel particularly quick! And missed their indicative date for getting them back

OP posts:
TheShellBeach · 11/02/2023 11:08

Sorry it's taking so long, OP.
I hope you'll get the results on Monday.

ACEC19 · 18/02/2023 08:27

Thanks everyone. X
hope you have heard back now OP.

GemboLakin · 03/08/2023 18:40

Hi all

I’m 13 weeks pregnant with my first baby I’m 36 and got the call on Monday to say I’m high risk for Edwards and Pataus syndrome and since then I’ve been going out of my mind with worry which makes me worry even more that I’m putting stress on my baby 🥺my result came back 1 in 120, the midwife said it was a low high and it could be down to my hormones but it doesn’t make me feel any better, I went for the NIPT on Monday so still waiting for the results which I hope come back this week as I can’t bear this waiting anymore. Has anyone else had a result like mine who is of the same age? I think I just need some reassurance!

Thank you 💜🙂

Essex1512 · 03/08/2023 21:47

Hi my lovely, I totally understand what you’re going through…I was 1/12 and I was so scared! I had an amniocentesis to confirm and it was negative, such a relief. My pregnancy didn’t work out and I had to terminate at 22 weeks as I had low fluid and baby wasn’t growing and eventually they think it was due to my placenta. The results that prompted the edwards/pataus worry was because my Papp-a level (the hormone your placenta produces) was low and my placenta was thin.

do you know why you’ve been given this result, was it from your 12 weeks bloods? What helped me was turning my odds into a percentage and your percentage is really high that everything will be ok. Sending positive vibes your way xx

GemboLakin · 04/08/2023 06:59

Hi Essex1512

Thanks for replying 😊

I’m so sorry you had to terminate that’s heartbreaking 💔😔 sending lots of love ❤️

I got the results from the blood tests at my 12 weeks scan, the midwife also said my Papp-a was low as well and has put me on aspirin I didn’t even know what this was so that’s another worry, did the midwife put you on aspirin? Xx

Essex1512 · 04/08/2023 10:09

Thank you 🩷 I’m doing ok now. I was also put on Asprin but only because I raised it haha. Do you know what your level is? I again only found this out when I went to have another scan. I found a really great Facebook group for low Papp-a so you may like to check that out as there was so many positive stories! Lots of the time it’s nothing to worry about, I know it’s easier said than done though!

they also say (and I’m 36) that they literally enter all the data into a computer and thats what decides your risk factor. Like I said my odds were really high and although my pregnancy didn’t work out I was negative for edwards and Pataus and I am sending all the positive vibes that you receive great news too. The wait is worse isn’t it :(

GemboLakin · 04/08/2023 10:54

Glad you’re doing ok now 🙃

To be honest I didn’t take everything in that the midwife said because I was so upset and in shock at what she’d said..I’ve got the paperwork at home that I was given after I’d been to get my blood taken so it might on there I’ll have to check it.

I’ll let you know how I get on when I get the call I'm trying to stay as positive as possible!

Thank you for your kind words 🥰

Essex1512 · 04/08/2023 13:57

its so overwhelming it really is. Please do, I’d like to hear and my everything is crossed that you receive positive news xx

GemboLakin · 04/08/2023 15:37

It really is it’s the worst time of my life ever I just pray it’s good news we receive all I can do is try and stay positive!

Thank you so much 🥹♥️ xx

FairyPixie1983 · 06/08/2023 18:39

@GemboLakin
I'm in the same boat except my risk is 1 in 3 so I'm terrified I'm 39 and low papp a and slightly low hcg
Waiting on nipt but booked for cvs Thursday as tried last week and couldn't get it due to placenta
I feel like I'm in a living nightmare and have totally disconnected myself from this baby and my pregnancy 😔 x