NT HIGH/DS, Edward’s/Patau Screening HIGH

[MPC24]

Looking for similar experiences with results but positive outcomes as I’m extremely overwhelmed by it all and anxiety is in full swing.

We had our “12 week” scan at 14+1 where baby was perfectly healthy but it was noted as a concern that the NT fluid was 4.5mm. We then got the screening bloods and sent on our way. We got our results back this week saying I was 1/24 at risk for DS and 1/13 for Edward’s/Patau. We were also advised PAPP A was also 0.38. Absolutely devastated to say the least.

We went on to have a private nipt that night which I was 14+5 and it was a completely different opinion. Although we were out of the “scanning cutoff”, the sonographer said if we came here just a few days before, she said she wouldn’t have had any red flags as baby is growing and developing as they should be at this stage, even the fluid was back down to 2.9mm which is within range. She said she couldn’t use this but didnt see any red flags?

We are still waiting for our nipt coming back but I guess what I want to know is the following:

1. has anyone had rough measurements and screening results like ours but nipt has come back clear?
2. had high risk nipt after measurements/screening results like ours but amniocentesis come back clear?

We are clutching at straws and holding onto hope but it’s extremely hard as we have already had a close personal experience as my sister went through a medical termination due to baby having turners and heart defect, although this was clear in abnormal defects through scanning which is something that isn’t showing up in our scans?

thank you x

Mine was 5.6mm and had 1:17 for down syndrome and 1:175 for the other two. We were told we were in the bad range of something being wrong and gave us little hope. NIPT came back low risk. I refused the amnio. All scans have been fine and the heart scan was also fine. I am now almost 24 weeks and nothing has been picked up. I know there is only so much they can see on the ultrasound but am remaining positive!

Despite the bad odds and markers, it can be ok. It is awful waiting for results, hope yours come back soon x

I'm sorry you're going through such a worrying time
I can't reassure you with a happy ending as I'm in the same unknown unhappy place
I got a 1:2 DS and 1:88 Edward/ pataus.
I'm 16 weeks and had an amnio done on Thursday expecting results early next week.
I do have very low pappa though at 0.14
I did have low papp a as well with my dd and everything went well just extra growth scans and was on aspirin to support placenta so I hope this reassures a little on that front.
I hope you're doing OK it's so hard

@Sherlock30 @MPC24 how did you both get on? Was all okay? Xx

So sorry you've had such a stressful time, the unknown and the waiting is so overwhelming and scary. I had a similar experience where I had no concerns at the 12 week scan, but screening came back with high chance for all three trisomies, I knew nothing about any of them so reading up on Patau and Edwards was a shock for sure. I had the NIPT which ruled out Patau and Edwards (1:10,000) and gave us a 95% likelihood of DS. There has been some discussion recently about the NIPT not being as accurate as it's advertised by some private companies, but it still gives a very good indication. I wasn't prepared to have the invasive tests (CVS and Amnio) because the risk of miscarriage scared me. But the waiting is the worst, for sure. I hope you get a result soon so that you can move forward. Xxx

Hi there, thank you for checking in. I’m now currently 26 weeks with a baby who has no chromosome issues which was ruled out by amniocentesis at 19 weeks but unfortunately my baby has a heart condition where there are 4 abnormal defects that we are aware of. We won’t know anything more until she is born but we are being closely monitored. She will need surgery when she is born and then open heart before she is 1 year of age but this is all we know at this stage. It’s been a massive rollercoaster throughout this pregnancy but I’m willing to do anything at this point now to give her the best chance at life. The future is so unknown to us and it scares us as a family but we have each other to pull us through. Care take xx

Bless you, it's such a worry isn't it? I hope all is well, if it's any help heart surgery is not uncommon, and the cardiologists are amazing! - I know a number of babies who have had OHS and their recovery rate is incredible! Also several older kids who I wouldn't have ever known if their parents hadn't told me. It's such a terrifying thing to hear, and I'm very fortunate that I've not had to experience it personally, but hopefully you're able to get some support - there are groups for babies who need or have had heart surgery, where you'll find mums in the same position as you, which may help. Sending you lots of love and positive energy xx

Sorry I've only just seen this message haven't been on here for a while.
Sadly we ended up having a termination for T21 and severe heart defects end of September
Hope you're OK!