High risk for Down's syndrome

[STKF96]

Hi all,

I have just had my screening results back, showing that my baby has a 1/84 chance of DS (so still only 1/1% chance but still has worried me). All other screenings came back low risk. I am booked in for a NIPT test tomorrow.

I am 26, from what I could tell the measurements at the scan all looked pretty spot on. My question is what are these screenings actually based on? And does anyone have any success stories of going through further testing and it all being ok?

Naturally brain seems to go to the 'worst' case scenario (not that having a baby with DS is the 'worst' by any means). It just all feels very alien to me and not things I am familiar with as this is first baby after MMC :(

Sorry you have had a worrying result.

The figure is generated via an algorithm that uses a number of factors to calculate such as age, NT measurement, HCG hormone level, Papp-a hormone level, smoking status, BMI, diabetes etc.

Hopefully your NIPT comes back low risk, I know a lot of peoples do as it's a more thorough blood test for looking for DS. X

NIPT is much more accurate. At your age I’d say the risk is low but definitely have as many tests as they offer

Thank you both. I think the fact that I’m fairly young, don’t smoke etc worries me more because if that’s all in the clear, what caused this result? 😣

I am absolutely going to go for any test I can. I almost wish they just went straight to NIPT rather than go through this.

going to speak to the midwife tomorrow and see if they can offer any more insight into the results of the blood test to get more of an idea x

Given age and other factors it's probably hormones that have brought the risk down. Hope your NIPT comes back quick x

@Sagittarius25 hoping this is the case. Hoping so much that it’s a quick turn around and doesn’t prolong the worry. You read so many posts saying the NIPT went on to be ok but you can’t help but think you’re the minority. X

My screening test came back 1/23. For me it was a combination of low pap-a and slightly higher than normal hcg. Plus I'm in my 30s which will have contributed. It was a very stressful week of waiting but NIPT came back all clear and I'm now 6+ months

The way my midwife explained it was that the screening tests are a really wide net so that they can follow up with NIPT which are very accurate. Most people flagged as as high risk will be absolutely fine but it's still really stressful going through it.

I would ask midwife to talk you through what led to your risk calculation. If you have low pap-a like I did they may recommend you take aspirin and refer you for extra growth scans as it can be a sign of increased risk for complications like pre eclampsia. So far everything is looking good for me but I'm happy to have the reassurance of extra scans etc.

Wishing you all the best with it ❤️

@Alpacabag22 thank you so much for your reassurance. You’re absolutely right and deep down I know that the first test isn’t as accurate as it could be. Just makes my mind race 😩

I am definitely asking for a break down of what lead to this result as I have read about pap a as you mentioned. Going to push for answers!

also had a thought that they have my height wrong (about 2 inches shorter!) which makes me think maybe my BMI is registering high and adding as a factor. Who knows! X

Try to remember too that you have 83 chances out of 84 of everything being fine. Hope your midwife can speak with you soon.

@Izzy24 absolutely and the midwife did keep reiterating that the percentage chance is still only 1.1, and in the grand scheme of things those chances probably sound great overall. Just still can’t help to think ‘what if’ I’m in that percentage! X

Slight update after seeing the midwife today and getting NIPT done/more results back, she thinks I have most likely been flagged as HCG was high. Levels were:

HCG 2.21
NT 2.7 mm
Papp-a 0.80

She said they are all technically results within 'normal' range but at the higher/lower end (for Papp-a). Now it's just a waiting game 😖

We don't say "risk" it's chance. My daughter is Down's syndrome and she's definitely not a risk.

@chloe11b of course, you are completely right!

I was only repeating and using the language that was used by the midwives/consultant/on all the correspondence around my results. I did not come up with the phrasing. This isn’t reflective of my personal views at all. X

@chloe11b on a similar note (as I am trying to educate myself), I was under the impression that the phrasing should be ‘has Down syndrome’ rather than ‘is Down syndrome’? Please correct me if I’m wrong! X

Hiya what did your results come back as?

Hi @ashrenaex! I ended up having to repeat the NIPT as the first round of results came back inconclusive… spoke to a very reassuring consultant who told me not to worry. And he was right! My second lot of results came back as low risk for Down Syndrome after all that worry and every scan has looked perfect. X

Down syndrome Screening came back as 1 in 123 what is everyone else’s experience

My DS chance was 1 in 5 on the basis of my age of mid 30s and very high nuchal translucency measurement. I didn’t have a NIPT, went straight for amniocentesis and the results were normal, all scans also fine. Now have a very healthy 5 month old. It is just a chance, altho the wait was dreadful. I convinced myself the results were going to show Downs syndrome and started researching local support groups etc.

Agreed, the wait is the worst part. However now have my very happy 2 month old sitting on my lap. 1 in 123 is ‘better’ odds than I had, and my boy does not have Down syndrome x