Very high risk of Patau's and Edward's syndromes

[CLlD]

Following our 12 week scan (13 weeks) last Monday, we were told that the fetus' Nuchal Translucency was high - 6.4 mm with a possible cystic hygroma. We later received the blood results which although give a very low risk of Down's syndrome, our risk for Patau/Edward's was as high as it could get - 1:2.
We are so devastated with these findings as this is the furthest we've got in pregnancy, having suffered two early miscarriages previously.
I am 37 with low AMH so understand we were always at greater risk of genetic abnormalities.
We have been referred for an Nipt next Monday.
Hoping for a miracle but preparing for the worst. 😔
Has anyone had a similar experience?
Thank you

Didn't want to read and run,

I haven't experienced this myself but I'm so sorry your going through this. I hope for a miracle for you both ❤️

Sending you love and strength x

Oh that’s awful

Hugs ❤

I’m so sorry you’re going through this, it’s the absolute worst.I was in a very similar position in 2017- 2 early miscarriages over 2.5 years trying and then a very high NT after we finally made it to 12 weeks.

I’m afraid it wasn’t good news in my case and I had an Edwards pregnancy that we decided to terminate. However, I fell pregnant with my now 3.5 year old son immediately afterwards and am now 36 weeks pregnant with a second hopefully healthy son.

You may still have a better outcome and I do hope for that but Hopefully this gives you some hope that your happy ending is round the corner whatever happens - I know it feels endless at the time.

So sorry, unimaginably stressful and sad. Fingers crossed that you and your baby are okay, x

Yea, our first baby had a high risk for Edwards/Patau and a large cystic hygroma.

When we had the scan he sort of just lay there like a potato.

The Consultant was really kind and talked to us at length but did advise termination due to the size of the cystic hygroma.

We had cvs after termination abs it didn't show any genetic problems but that didn't take away the fact that the cystic hygroma was so large.

The Consultant looked after us in subsequent PGs and we've gone on to have two healthy DC.

I knew the next one was ok because we could see him zooming around at the 12 week scan instead of just lying there.

Hope you get a better outcome. 37 is still doable though, out last DC was born when I was 39

We had a high downs result 1:7 and opted for the NIPT test privately and that came back as 1:50000 so the NHS tests are not as accurate as the NIPT. I'd say read up but do keep in mind that the NIPT is much more accurate then the NHS.

I am so very sorry @CLlD my little boy was diagnosed positive with T18 in April this year. My bloods came back ok, but my scan and a few concerning markers gave us a 1in3 chance of T18.

We then went on to have a CVS the day after our first scan. Results came back 3 days later confirming what we were already expecting. I have never cried so much in my life. There are so many great independent support out there.

I have everything crossed for you, but if you would like some links to support networks please let me know.

My heart is with you x

Hi May I ask for all your advice . I’m 24+1 week Iv had scans every three week due to age, heart shaped womb and previous early losses . Since 19 wk scan saying baby small . Nothing else shown and I came back as long risk after 12 wk screening . My scan at 23.6 the consultant mentioned cause of size I may need amino . As anxiety sufferer Iv cried since assuming my baby is seriously ill. If any serious issues would it show on my scan x

How did it all go x

She is 9 months, healthy, happy, playing blocks in front of me now and determined to be walking soon - hope there were happy endings on this post x

Hi, I didint want to read and run, but 15th September 2020 2 years ago our little girl was born sleeping at 22 weeks after an amnio the day b4 due to Edwards syndrome, also rocker bottom feet and hands. 2 chambers in her heart. Her heart upside down. I could go on. But here to this day on the 15th Oct 2022 will be my rainbow baby little girls 1st birthday.

We agreed to try for a baby and here we got our rainbow baby. She is so cute. And wudent change her for the world. But I still never forget her big sister.... The 15th will be a hard day.. X

Here our rainbow baby.. 10month old

Beautiful x

She definitely is. Our little rainbow spud. As I call her.