High risk Quad results. Please help

[Emmzo]

I got my quad test results today and we have a 1/40 chance of Downs. I know that’s still a good chance that my baby isn’t affected but it’s such hard news to take in and I feel really lost and overwhelmed 😥

I’ve been offered NIPT or amnio and at the moment I’m feeling like NIPT is the better option. The risk with amnio might be small but scares me so much. If it makes any difference, my hospital has its own fetal medicine unit (I don’t know if this is normal or would make an amnio less risky, I was very lucky in my first pregnancy to not need to find out). Would this change your mind about whether to go for the amnio?

I’ve had a couple of scans, at 12 and 15 weeks with the NHS (bad positioning on 12 week scan meant they couldn’t date or do the combined testing). Both of these the sonographers commented that everything looked perfect. They looked at various parts of the anatomy, the brain etc and there were definitely no concerns. I had a private gender scan last weekend and again, the sonographer checked everything and all looked great. I know scans wouldn’t give answers, but can I take any comfort at all that they would have noticed any obvious markers? If anyone has experience and can help I could post some scan pictures? I’m just looking for something positive to help me through the next few weeks.

Also, what things might make the quad test come back high? Other than the blood test markers, what else is used to calculate risk?

I don’t think I could end this pregnancy regardless of the result. I just feel so scared now and any help would mean so much. Thank you x

They should also be looking at soft markers on the scan, things like the nuchal translucency and the presence/appearance/length of the nasal bone.

Obviously also maternal age and levels of HCG and Papp-a in the blood.

Since NIPT is completely non invasive I'd go for that first, and leave the amnio for the case of an inconclusive or high risk NIPT result.

This happened to my DD - she chose to do nothing and it all turned out fine. Her reasoning was that if the baby did have Downs she would not have considered a termination, so there was no point in taking it any further.

She was a bit shaken to start with when the test came back; but one she got over the initial surprise she was able to reason things through better. Perhaps give yourselves a few days to mull it over before committing?

Thank you, I am definitely feeling like NIPT will be right for me, I just wish that the results came back quicker. There’s a week of limbo afterwards which will feel like forever. I don’t think I could end the pregnancy, but I really feel like I need to know.

Would they see soft markers on the scan at 15-16 weeks? I know they look at 20 but not sure if any might stand out earlier. She looked at the brain, heart, kidneys etc. and said that the spinal cord was closed, but obviously not like the detail of a 20 week scan.

I don’t have an NT measurement or Papp-a, baby didn’t cooperate for the first trimester screening. But the sonographer saw nothing of concern, and I believe if they had noticed that the NT looked large then they would have flagged it even without a measurement.

I feel like once I know then I can deal with it, it’s not knowing that I really struggle with