Combined screening 1 in 12 for Down’s with normal scan, CVS or NIPT?

[Londnnugget]

Hi all, looking for some advice / experiences as feeling quite overwhelmed.

I’ve just had my combined screening results back and have come out as high risk for Down’s syndrome at 1 in 12. I’m 43 and this is my second pregnancy.

At the scan everything looked normal, including the nuchal measurement (1.5mm), so this result seems to be driven by the bloods.

I’ve been referred to fetal medicine and offered CVS at St George’s, which is currently booked for Monday.

I think I’m leaning towards going ahead as I feel like I need a clear answer, but am also feeling quite anxious about the risk of miscarriage and whether I should consider NIPT first.

I’d really appreciate hearing from anyone who has been in a similar position — particularly:

• High risk result but normal scan
• Experiences of CVS (especially at St George’s if possible)
• Whether you chose CVS vs NIPT and how you made that decision

Also if anyone had a similar risk level and can share outcomes, that would really help right now.

Thank you so much — feeling a bit all over the place with it all

How many weeks are you OP?

I think it depends on what you would do with the information from the tests. If you would TFMR if the CVS was positive, I would go with this for the accuracy. If it is purely for an understanding of what you are facing with a view to continuing the pregnancy, I would maybe choose NIPT for the non invasive nature.

1/12 is about 8% so remember there is over a 90% chance that all is well.

I wish you well with whatever you choose.

Had similar a few months ago (1:10 risk) entirely driven by my age and low papp-A. NT and HCG were normal. I wasn't happy with any risk to the baby so did NIPT, which as expected came back as low risk.

Because it was my age that was the main issue, I was happy with NIPT. Basically the combined test said that I'm statistically more likely to have a baby with downs, but doesn't actually look for evidence. NIPT hunts for actual evidence. For me, it did not find any. A low risk result is only 99.9% accurate for downs I believe (less for Edwards , pataus) but combined with my normal NT measurement I am happy with that tiny risk. When we decided to get pregnant we knew our risk of downs was 1 in 100! Post NIPT it is now 1 in 1054, so I am happy with that! Info from here: https://www.nhsinform.scot/healthy-living/screening/pregnancy/non-invasive-prenatal-testing-nipt/#how-nipt-works

Test was at 12+3 - NT is normal, hCG very high amd PAPP-A little bit low.

Sorry you're going through this worry OP. I got a 1:28 chance of Down's with DS2 when I was 40 from NHS screening. No issues with scan either, my papp-A also pretty low. I decided to go for NIPT. I opted not to get CVS as I was very unsure as to whether I would go for TFMR (and don't think I would have done) and although NIPT is not diagnostic, I was comfortable based on research that the outcome of NIPT was highly likely to be incredibly accurate. It came back low risk and I was happy with that. Once I got the result the screening MW said she thought it was probably my age skewing the result (which seems quite common). DS2 born healthy with no issues. I did find the MWs did try to push me to get CVS, I think more to protect themselves in case the unlikely event that NIPT was wrong. But ultimately they supported my final decision.

I'm now 33 weeks with DC3, we decided to do NIPT privately this time at 11 weeks and bypass the NHS screening as it's much more accurate and I couldn't face the worry again! NIPT came back low risk again. Like all things in pregnancy though, you need to do what's right for you and what you're most comfortable with. I found out the risk of loss from CVS is actually much lower than the quoted 1:200 chance, a couple of my friends have had to have it for different reasons as no one has had any issues as a result of it. Sending you positive vibes OP and hope all is well x

My bloods came back as high risk 1:25. This was many years ago so amniocentesis was the only option. I decided to have it as I knew I would likely terminate if it were positive.

1:32 chances for Down's at 12 weeks with the combined screening based on slightly increased NT. Opted for CVS and everything came back normal.