1 in 13 chance Down’s syndrome (high risk)

[Hopingeverythingsok]

Hi everyone, this is my first pregnancy and I just wanted to reach out to see if anyone’s been in the same position and just has any advice for me (please all positive I’m having a hard time as it is)
I’m 28 years old, first baby due in June.
im currently 14 weeks and had my 12 week screening at 13 weeks which was last week.
I opted for the screening for Down's syndrome, Edwards' syndrome and Patau's syndrome.
The scan went really well, it’s been noted that the brain looks healthy, seen all 4 limbs and that a nose bone is visible in the scan.
However a week after the scan, I had a call to go into the hospital and was told I am 1:13 chance of Down’s syndrome. 1:5000 for Edward’s & patau’s.

my results were:
HCG - 3.29 MOM
PAPPA-A - 0.55 MOM
NT - 2.9mm

we opted for the NIPT test and had that on the day we were told the news - we are currently waiting for the results. But I’m just so scared and worried now.
I have some hope as my mum also had the same issue with me as a baby, they told her I was Down’s syndrome and she declined further testing and I was born completely healthy.

This was me! My DM was strongly urged to consider other options - she would've had and raised me either way but often tells me how happy she is that she carried on regardless. Nothing 'wrong' with me, very easy pregnancy and birth from that point 😊

You have a 12 in 13 chance of a healthy baby. The NIPT test will tell you with much more certainty. Fingers crossed for you x

Sorry you're having a stressful time, it's such a worry to get unexpected news at this stage. Hopefully you've got support around you, try not to worry or overthink - easy to say I know! I've been here myself though so I know that your brain is likely working overtime right now.

In terms of facts, not all babies with DS show soft markers during pregnancy, so without invasive testing you won't get a confirmed answer. Your screening team should be able to give you all of the options available to you. Also just to reassure you, it's also very possible to have a "healthy" baby with DS! There seems to be an assumption that all babies with DS are poorly, which really isn't the case at all. Either way though I hope you get a conclusive answer from the NIPT, and that you have a supportive and professional screening team to help you through the next steps.

A couple of good links are www.nhs.uk/pregnancy/your-pregnancy-care/screening-for-downs-edwards-pataus-syndrome/ for the NHS guidelines, and www.facebook.com/share/g/15c54aKdPG/?mibextid=wwXIfr for mums with a high chance or confirmed result of DS in pregnancy.

Sending lots of love xx

Hi everyone, I just had my results back from my NIPT and I got low risk for all 3. I just wanted to post because I know as soon as I found out it made me ill with worry, so I just want whoever sees this one day to know that things can be ok and to stay hopeful ❤️