Very high chance screening result for Edward’s or pataus

[ThatWaryPlumShark]

Hi,

I’m not sure what I’m hoping for posting this, maybe people who’ve been in similar situation, maybe happy ending stories.

my partner and I have been trying for a baby since last January (2023) in that time we’ve had 3 early miscarriages.
we are pregnant again and made it to our 12 week scan on 9th October(furthest we’ve ever got)

I stupidly let myself get a little bit excited.
yesterday we just got our screening results and my bloods have come back showing we have a 1 in 5 chance of the baby having Edward’s or pataus.
considering a high chance is anything 1 in 150 and under this to me seems horrendous.

we’ve opted to go straight for diagnostic testing and need a CVS, they don’t do this in our health board we need to go to another hospital but my midwife is going to call Monday morning to get booked in but said, it could be a week it could be longer.

I’m just struggling right now with the waiting game and not knowing what the outcome is going to be.

if you’ve read this far, thank you.

This sounds really hard and stressful. I can only suggest to cross the bridges as they come. There's a 4 in 5 chance your baby doesn't have Edwards or Pataus. Thinking of you and I'm sorry for your losses.

I'm so sorry you've been through all of this before getting to this point.

I've had a high result for this in the past. It did turn out not to be anything genetic but we were advised to terminate anyway as there was something else. Won't bother you with the details but even after having a high risk Edward's/pataus definitely wasn't there.

We have gone on to have 2 DC afterwards though.

I've always found the waiting but the hardest and we've had to do it a couple of times.

We found things like going out for walks together or for something to eat helpful, it doesn't have to be expensive, you can talk just as well in the local carvery

@PolaroidPrincess sorry to hear what you’ve been through. I can only imagine how hard that would have been.

It is helpful to know however that Edward’s or Patau’s was not diagnosed after the diagnostic testing.

Yes, I think a big walk with the dog is on the cards to try take our minds off of it a bit. Some food is a good idea too as eating is the last thing I want to do at the moment.

@PurBal thank you.
This is what I need to tell myself there’s a 4 in 5 chance they don’t have it.
I think because a high chance result is anything 1 in 150 or under, when we’ve got 1 in 5, panic set in!
I’m going to keep reminding myself of this

Some food is a good idea too as eating is the last thing I want to do at the moment.

Like Purbal says, there a 4 in 5 chance that this baby is perfectly healthy. So nurture the baby's and nurture yourself. Eat nice things, go for that dog walk, hug your DH and talk to the baby

Every story will be different. Here’s mine.
First child conceived via IVF. Second child natural 5 years later after being told we only had a 1% chance of ever conceiving naturally. Went for 12 week scan same as you, optimistic and excited. I can’t remember the odds but baby had an enlarged bladder which was indicative of Edward’s. I remember sitting in a little room waiting to see the fetal medicine consultant feeling so upset. We were offered CVS or to wait another 4 weeks for an amino which we decided to do. Was told whatever we do, do not Google - it was the first thing we did when we got home.
4 weeks later we were at the appointment for the amnio, Dr scanned me first and the bladder size was ‘normal’. Did a detailed scan and at that point said our chances of Edward’s were really low. We decided against the amnio and went on to have a healthy baby boy.
He will be 18 in December.

I hope you have a similar story. I will be thinking if you and sending positive thoughts your way. The waiting is the worst. I hope you are well supported in real life.

@Beautifulsunflowers
Thank you for sharing your story. I’m so glad everything worked out for you and I’m praying we get some good news when we get the CVS too. I don’t think I can wait any longer to the amnio.

Going to try keep positive and hope that we finally get our healthy baby we dream of.

So sorry you have this worry OP. I think I had 1 in 25 risk of it which was also worrying but thankfully ok in the end.

Try to keep your mind off everything, absorb yourself in films that are nothing to do with babies etc. fingers crossed all will be ok.

Sorry you are going through this OP. Can I recommend Arc? I found them very supportive and informative.

Hi there

Did your baby have a high NT measurement at your scan? I presume not if it’s taken so long to get your blood test results.

Our baby had a 8mm NT, my bloods were rushed through in 48 hours and we were 1 in 8 for T21 and 1 in 5 for T13/18. We were referred to the fetal medicine dept at a bigger hospital but couldn’t get an appt for a further 10 days. In the meantime we were offered a NIPT, has anyone mentioned that? You can pay privately (often known as the harmony test), but worth asking for it on NHS as your bloods have come back high risk.

Our NIPT came back high risk for T18 and we sadly terminated.

12 months on from the termination I am a couple of weeks off having our rainbow. I really hope you don’t go through what we did but never give up hope xx

@MrsScotland
NT measurement was fine at 1.4mm.
so it’s just the bloods that have flagged.

we’ve opted against NIPT as it still doesn’t give a definitive answer.

sorry to hear you went through that but congratulations on your rainbow baby 🥰

Hi @ThatWaryPlumShark can I ask how you got on?

Sorry for the late reply.
unfortunately, things did not end well for us.
we went for a 19 week scan on 29th Nov and there was no heartbeat. I then delivered our baby on Monday 2nd December. We don’t know as of yet if our angel did have any of the syndromes but currently awaiting post mortem results.

Oh I’m so sorry to hear you lost your precious baby. How are you doing? X

I’m so sorry to hear this. How utterly devastating for you both. Sending love and best wishes your way.

I'm so sorry for your loss. We had a similar story with our first PG

Im so sorry to read your update.