High risk for down syndrome

[Worrymyselfsilly]

Hi everyone,
First Post here, I really could do with some advice / reassurance or any stories from anyone who's experienced something similar..
I had my 12 week scan and NT was measured at 4.0 which was higher then it should be , I then had the bloods done for the combined test and received a phone call today telling me my chances for DS are 1:6 and 1:12 for Edwards syndrome.
Absolutely worried sick! Dont know what to think or how to process this... I am going to continue the pregnancy regardless of the outcome but my heart is so heavy right now.. I gave birth in July 2020 with clomid after 4 years of trying via c section
This baby was a total surprise just alot to take in..
Sorry for the essay !!

Sorry you've got these worries right now.

Remember the odds are still in your favour. 1:6 is about 16% .

Was there any signs of baby having any physical issues? Normally with Edwards something is picked up at least by the anomaly scan.

Of you are continuing, I wouldn't risk amnio but there are things like the NIPT you can have privately

@SleepingStandingUpthe scan the only thing picked up was the high NT measurement behind babys neck which was 4.0 . The sonographer didn't mention anything else in all honesty. He did however refer me to fetal medicine, I have a scan with them tomorrow.. the nurse I spoke with today who gave me the results said I could either have the NIPT done through the NHS Tomorrow or opt for the CVS.. just a mess right now its too much to deal with :(

I'd always pick the least invasive of you'd continue any way.

And I'd do it sooner rather than later because not knowing is harder than knowing.

There's lots of support out there, esp on things like FB, if the results aren't what you'd hope for. And there's a lot of hope in them too

@SleepingStandingUp

Yeah.. fingers crossed 🤞 🙏
Im going to have the NIPT done tomorrow if possible

Thank you for your positive words xxx

Best of luck xx

@SleepingStandingUp our NT showed 4mm at 12 week scan too. Our bloods through nhs showed low risk though. Ive had a scan with the consultant at 16 weeks to check over baby and everything was ok. They are going to check again at the 20 week scan (3 weeks) and ive paid private for harmony as i wanted more accurate results. We were told it could be chromosome issues, heart issues or absolutely nothing.
Our fetal medicine midwife told us normally they recommend harmony or cvs/amnio, rather than both as they are both pretty good indicators. However, the amnio/cvs i gather would be more accurate. In our shoes had i been considered high risk i think i would have went straight to amnio. My numbers were 1/359 for ds. They didnt tell us numbers for the other 2.

We had one in 5 for DS and a positive NIPT for downs. We refused amnio or cvs due to miscarriage risk - those are the only diagnostic tests. NIPT is just screening. Try not to worry.

@Ssandy52
I did go for my appointment yesterday for further scanning in the fetal medicine unit. I felt pressured into the CVS so being alone I just gave in, they said the NIPT was not going to give me any answers for the high NT measurement and only checks for the 3 chromosome abnormalities..
I did have low papp a.. I was advised I will need further growth scans for this..
3 day wait now fingers crossed 🤞
Can I ask , did your baby have a high NT measurement too..?

Hi - that’s awful that you felt pressured! But you will get a more definitive answer from CVS than NIPT. It was 3.2 I think from memory, my bloods were off but it was the HGCb one that was high rather than the other. Try not to worry !

Thinking of you whilst you wait x

@ssandy52 The doctor was very pushy about it , in the end I just gave in..
Im in constant worry at the moment but im hoping I get some positive news.. if not I guess it'll mean I've got time to prepare for any other outcome

@bin85 thank you 😊 ❤ I will update the thread once I've heard xx

@Worrymyselfsilly I’m sure it will be fine. The waiting is awful, especially in lockdown. Poor you ! Try not to google. Easier said than done I know. Our news was initially a shock but we are excited about the baby and there’s lots of support available x

@Worrymyselfsilly I've been told I'm 1 in 16 risk for DS too, though scans looked fine confusingly. Low papp-a too at 0.36. I had my NIPT test today.

Fingers crossed for us both...sending positive thoughts.

@Worrymyselfsilly good luck! Hope the results come back soon. It’s so horrible waiting x

Hi everyone
@Ssandy52
@KiraCeleste

I had the first lot of results back from the CVS , all clear for DS T13 & T18
Also found out the gender.. little boy
Waiting on the final report that looks for any other abnormalities now. Fetal medicine said I should have that back in the next few weeks.
Stressful wait, cant help but think I got lucky with the first set of results and the next lot wont be so good.. Purely because of the babies high NT measurement.

My Papp a was also on the low side 0.38 I think.. its a horrible wait but ive got my fingers crossed for you! Xx

Hi. I had a NT of 5.3mm at my sons 12 week scan, they gave us less than a 50% chance of him being OK. I had the cvs the day after and all the results were fine like yours. The odds then go up to something like 70% OK, I then had 3 weekly scans for growth and they had concerns about the heart as that's what can also be linked to the NT measurement. At 26 weeks I had the heart check and all was fine, I was induced on his due date so he could be checked and he's perfect, 15 months old and fast asleep on me. Try and think posititve xxx

@amummy2boys
Ahh thank you for sharing your story!
Thats so reassuring and im glad all was okay for you ❤

I had a 4.8mm measurement, we had CVS and all clear. I remember obsessively reading people's stories just praying I was one of the positive ones.

It's an awful time 💐 sending you love

@doadeer I also did this! All the way through. It was such a stressful and worrying pregnancy looking back and I still worried until they checked him over when he was born and he was fine

Ah yes lots of hope. We had a positive NIPT and the scan shows the little lady has club feet so I’m almost positive that she has DS. But I am so excited to be having a little girl and so glad she’s healthy xx

I am also on Google every day trying to find positive stories so I can get a little piece of mind.. I think its easy to fall into a very negative cycle ... these threads definitely help !
Whatever the outcome, im sure when they arrive they melt your hearts regardless x

So great to see all of the positive stories. I’m currently waiting on NIPT result. Anyone in Canada (AB?) How long for NIPT results. Got 1:4 for DS at NT scan and also with the NT measurement of 3mm report said should be referred for heart defects. Doc said should do Amnio but I asked for NIPT to try to avoid Amnio. Sounds like a lot of similar cases with thicker NT.. with low risk NIPT for DS did doc still recommend Amnio to check for other abnormalities with thicker NT?

@KiraCeleste
Did you receive NIPT results yet? If so, hope all okay

@Adi2484 not yet - hoping to get them by Thursday!

Got my NIPT results today - low risk for Downs. So happy! It’s been an anxious week.

Hope you get your news soon @Adi2484!