Combined Screening Results UK NT high but bloods normal

[Gem2819]

Hi

I was just wondering if anyone had a similar experience to me and what the outcome was?

I went for my 12 week scan and had NT measuring at 3.6mm, baby was measuring at 12+2. I had the combined test and the blood tests results came back Hcg average and PAPP-A on the higher side (they unfortunately didn’t give me exact values)

Apparently bloods alone this is not suggestive of any of the 3 chromosome disorders as PAPPA is usually low, however due to the high NT my results were 1:53 for Down’s syndrome (high chance) and 1:210 for Edwards and Pataus (low chance). I am 28 and this is my first child.

As one has come back high I can have NIPT on NHS which I’ve agreed to but I’m in two minds as whether I should have agreed to this.

If the baby has Down’s syndrome this would not change my mind on the pregnancy anyway and the week wait for the results may just cause unnecessary stress after the midwife said she thinks it’s highly unlikely. I also went for a scan at a Fetal medicine unit at 13+1 and they saw nothing abnormal other than the NT measurement raised (it was 3.5mm at that appointment).

Has anyone had an experience similar to this and if so was the NIPT results clear?

Hiya, I had normal NT but abnormal bloods and got an NIPT test as I was constantly thinking about it, partly because I already have a daughter and wanted to be able to prepare and manage the impact on her. I was also concerned that I would be wondering all the way through birth and then when I first got to see the baby, which is not what I would want to be thinking about!

If you are really not worried then that is great and maybe you don't need the NIPT, but I would have thought that usually it is better to know in advance and benefit from extra support and advice. If you are not worrying now I wonder why you would worry waiting for the results later? I felt like I worried less as soon as I had the test because I knew I was doing what I could to prepare. The NIPT does only come back saying low/high risk, but it is far more accurate than the NHS screening as it actually tests the DNA rather than basically just looking at risk factors.

Hope you manage to make a decision you are happy with and enjoy the rest of your pregnancy!

I had a NT of 5.6mm and had NIPT. My bloods looked normal but they gave me a 1:17 chance of down syndrome. NIPT came back low chance for all 3. I refused the amnio due to the risk of miscarriage (I know it is low chance). Heart scan at 20 weeks was fine and all monthly scans have been good so far! I am glad we had NIPT but the wait was horrible. Mine came back after just a few days but felt like forever!