1:5 Patau - after quad & nipt

[Hadd9]

Hi,

I’m new to this!

On my 12 week scan they couldn’t do the combined test as baby wouldn’t keep still and kept bouncing around or getting too comfy into a corner! They said I’d have a Quad test with my midwife and nothing alarming was raised.

I had my Quad test with my midwife at 14+5 and the results came back as 1:95 for Down syndrome.

We paid for the nipt (blood test only) and the results came back a week later:
DS- 1:100000
T18-1:100000
T13-1:5

I’m distraught and booked in for an amino tomorrow morning. Everywhere I read it says if it’s 1:5 or less the baby practically has patau.

Has anyone had anything similar? Reading online is like a world wind!

Thank you in advance 💕

Oh op I’m so sorry. I had a similar experience but with edwards (T18) my nhs bloods came back at 1:256 for t:18 but that was far too close for my liking so I had a NIPT and it came back with a similar number to you.
Unfortunately through CVS tests we discovered it was full trisomy 18 and I had a TFMR at 18 weeks.
Hand holding here I know how totally terrifying it is for you.
The ARC are a FANTASTIC organisation and their helpline was invaluable. Staffed by women who have been through the same journey and they get it. Give them a ring.
Good luck with your amnio.

Hi,

I’m so sorry!!

I’ve had my amino, which I’m glad I didn’t look into!!! Strangest thing ever. They didn’t do an in-depth scan and just got on with the amino! I did get to hear the heartbeat at the end, which was really nice.

I just have everything crossed 🤞🏼 xxx

Everything crossed for you. Did they say how long the results would be?

Thank you so much. So they said earliest will be tomorrow between 4/5, but if not it will be either Thursday or Friday.

@Hadd9 did you get any news? Have been thinking of you.

Hi, we found out that baby does have T13 and booked in for a TFMR next week. My heart is actually broken 💔

I'm so sorry to hear that ❤ hope you've got lots of support at home x

Oh @Hadd9 I’m so so sorry. It is the worst of things.
One thing my doctor said to me was that ‘you’re taking the pain so your baby doesn’t have to. That makes you an amazing parent’
Hold on to that. Get through this time however you can and be gentle with yourself.

Just an update…
Today have started the process of the TFMR. The staff were amazing - so much so, my husband and I cried in the car because they were so nice to us!
I have to go back on Thursday where I will give birth to our little baby 💔

Oh love. This is just horrid. I’m so so sorry

I am so very sorry Hadd9. I was in a very similar position to you over Christmas, but instead of patau it was edwards. My risk was 1/2.
I can recommend Arc and I’ve also found a local counciling service, which is helping me come to terms and process what happened.

Sending you lots of hugs and try be kind to yourself xxx

Thank you 💙💙💙