NHS screening results 1 in 56 for Edwards and Patau Syndrome

[Sarj19]

Hey,

I found out Tuesday that my combined screening bloods show high risk for Edwards and Patau Syndrome.

The hospital have booked me in for a NIPT test tomorrow morning.

I am so scared, this is baby no.3 and my 2 children are so excited about this pregnancy.

I'm praying for the best but getting prepared for the worse.

Does anyone have any stories who have gone through this? Good or not so good.

Thank you x

Oh gosh! My friend’s baby was diagnosed with this and she felt she had no choice but to abort her. She gave birth to her. It was her first, longed for baby but they’d had a scan that had definitely confirmed the syndrome.x

I can only imagine how stressful this is, I'm really sorry OP. All I can say is those odds are still very much in your favour, 98%(ish) that it's all fine (if my maths is right) so don't lose hope 💕

Oh bless her. The scan seemed normal, but apparently my bloods gave the results. I'm 33 this year and they say age is a factor. Just praying for the best. Sending lots of love to your friend x

PurpleTurtleMoose thank you so much xx

Just an update. Just had my NIPT test, results should be in by next Friday. I slightly got my figures wrong, I'm 1 in 53 for Edwards and Patau Syndrome, I also have low papp-a measuring 0.27. I've read that this can sometimes interfere with screening results? Anyway we had a private scan after and baby looks healthy and we discovered he was definitely a boy lol.

No experience of this directly, but I do have a child with a rare chromosome disorder that isn't tested for in pregnancy so wasn't discovered until they were born. It was hard to get our heads around, but they are incredible!
There are lots of mums on social media with children with both of these conditions though who are living and thriving. 'Georgia on my mind' is one of them. She is doing amazing!
Good luck and unmumsnet like hugs, I understand how scary this must feel.

ditsygal thank you for sharing. X

My rate wasn't as low as yours, but in my area I qualified for a trial and had the NIPT. That came back fine and was actually reassuring as it screened for a wider range of conditions. It's an anxious wait that I remember well.

@Sarj19I had 1 in 50 for DS and slightly better for Edwards and Patau’s, but still higher risk. I also have low Papp-A and was told that does affect the results. I had the NIPT and got the results within a week and everything came back low risk. I’ve just had my 20 week scan and everything is going well.

I went on a googling frenzy and so I know it’s really stressful, but it helped me to think about it in terms of % …I had a 98% chance of everything being fine and those are really good odds when you think about it. I hope everything goes well for you too. If the scan and NT measurement was all ok, that’s a good sign too.

I had 1 in 76 for Edwards and pataus, normal scan but low hcg and papp a. Low risk NIPT and is indeed a healthy 1 year old now. Truely the stats are on your side x

@DejaMooo this has reassured me so much, thank you for sharing! I'm on a Google frenzy just so I can be prepared. NT was 2.3 and baby seemed completely fine in the scan.

@Happydays2025 that's amazing. Thank you for sharing x

Please can someone make sense of these, is NT on higher side? The Papp-A has been highlighted so not sure if the rest is course for concern. My anxiety is through the roof 😔 I'm 14 weeks tomorrow.

No the NT is fine, papp a and hcg are low which is what has pushed your risk up. Remember that it's just screening. Outside of the screening, hcg means absolutely nothing and low papp a can sometimes be associated with placental issues but usually doesn't impact anything.

@Happydays2025 thank you. I had low Papp-a with my daughter. She was born a healthy 7Ib3 at 39 weeks. Hoping it is just Papp-a causing the high risk result. Thanks for your reply x

Hey all!

I have an update, we had a call today and NIPT results came back as Low Risk!

We are so over the moon and I'm finally able to get excited! Xx

Congratulations, wonderful news x

Excellent news!! Congratulations 😀 xx

Thank you so much for posting your good news! I’m in the same boat of high risk for Edwards and Patau and had my NIPT bloods taken yesterday.

It has really scared me that every thread I’ve read with similar numbers to me has seemingly had a tragic ending.

It seems for me to be my age (40 at EDD), low Papp-a (same in last pregnancy that was fine), and HCG on the lower side of normal.

@FenellaFurchester the last week has been one of the hardest of my life. I was trying to stay positive for my other 2 kids but I was constantly thinking about the worst case scenario.
Apparently low Papp-a can impact the combined screening results so I have read.
I will have my fingers crossed for you. Try stay positive! X

Sometimes I feel optimistic but then feel like I’m jinxing it or setting myself up for a fall by feeling hopeful. Thanks for updating, it has been a horrible 48 hours of doom scrolling, watching peoples worst cases unfold and then I found your happy thread - I won’t read any others.

I’m so happy for you, thank you for the crossed fingers and positive thoughts, it does mean a lot ❤️

Just to update - my result came back as low risk as it’s possible to be. Thank you for the support and good wishes.

@FenellaFurchester amazing news! I'm so happy for you. We can enjoy our pregnancies now :)

Just to add another positive story: I had a similar risk in one of my pregnancies - also from low Papp-a. Everything was absolutely fine, and the reason for the low Papp-a never discovered.