Downs syndrome and Edwards syndrome test results

[Rayma]

Hello looking for some advice/personal experience

I've recently had my 12 weeks scan and blood test and been told we have 1 in 98 chance of down syndrome and 1 in 47 chance of Edwards syndrome

They said the baby physically can't have both and I also have low papp-a

I've opted for further testing at 15 weeks from the amneotic fluid as it comes with less chance of miscarriage but a higher accurate result

Has anyone had similar results and what happened?

Thanks x

I had 1:43 for Down Syndrome. Amnio was clear. Healthy baby

I paid for the NIPT at 11 weeks which showed patau, trisomy 13. I can't recall the papp-a results now. I was given a more detailed scan at the clinic which also showed multiple, physical issues. The NT was 6.5mm. The autopsy confirmed the result.

Just remember that you have 1 in 53 of NOT having Edwards and also only a 2% of Downs. If you have any questions, happy to answer. x

Thank you for your response 🙏 sorry that was the outcome for you ♥️

Did you happen to have any scans prior to that? We've had 3 (one at 7 weeks due to pains, one private at 9 weeks and our dating scan at 12 weeks) and all have been normal and the nurse today mentioned that they found no abnormalities with the scan which is usually a good sign (but not to pin all hopes on this) xx

Did you happen to have any scans prior to that?

Yes. It was my first pregnancy after 4yrs TTC. I had 1 sided pelvic pains so had a scan very early on once I knew I was pregnant, so just before 5 weeks. There was a foetal pole but not much else so had a repeat scan a week or so later.

Saw a heartbeat on the next scan and obviously very excited. Sadly the NIPT a few weeks later proved otherwise, along with the detailed scan which showed multiple issues. Nothing was flagged on the earlier scans, but the foetus is mm in size, so I wouldn't expect anything other than something very major to have been seen then. x

I had 1:4 for downs and 1:12 for edwards and patau with my second pregnancy. I struggled to get pregnant the second time and it was a total shock at the 12 week scan to get the news.
I opted for the cvs done a couple of weeks later as i didnt want to wait and it was clear. I had a fair few heart and anomoly scans through the rest of the pregnancy and it was a uncertain time to be honest as i never got anymore than 'we can't find anything wrong but doesnt mean there isnt'.
However she is a very healthy 11 year old now.

Couple of days later, not weeks sorry.

Thanks for your comment, I'm so happy everything worked out for you ❤️
That's another fear of mine if everything comes back okay is there still a chance of health issues once born, its such a hard and scary time x

I’d 100% recommend these guys:
https://www.arc-uk.org
I sobbed down the phone to them about our scan results, and they were brilliant (calm, warm, knowledgeable). He is now 14, and doing great!

You need to look into the false positives about this. See Emily Oster on how the maths actually work. Chances are the baby is completely healthy. In any event, people with Downs syndrome live joyful, fulfilled and healthy lives and are deeply loved by their families.

We had 1 in 70 of Downes and 1 in 75 of Pataus and Edwards and I have a low Papp-a. We opted for a NIPT at 13 weeks as it was non invasive which came back negative for everything within a week.
We specifically asked at our 12 week scan did everything look ok and they said yes but I’ve since been told they wouldn’t know from the scan. I’m currently 21 weeks and had our anatomy scan earlier this week which everything looked good for.
The 2 weeks when we didn’t know how baby was were the worst of our lives. Take your time there is no need to rush into any decision, you don’t have to make any decision at all if you don’t want to. I didn’t appreciate the NHS ringing everyday to ask if we’d made a decision yet, it was not helpful. They were very keen to get me in for a CVS.
Try and focus on you being 1 of the 97 or 46 that won’t have those syndromes.
Good luck 🍀