Screening for Down's syndrome, Edwards' syndrome and Patau's syndrome

[Jhug1]

I recently had my 12 week scan and opted for the screening of the conditions. My last pregnancy was 2023 and my results came back 1 in 10,000 which at the time was the lowest risk. Now they have changed it to 1 in 5000 but I received my results today and my downsydrome was around 1 in 1500 and the other was 1 in 5000. The risk says low and no further testing but I was a bit shocked when I received the results as I was expecting it to be the lowest risk again. I am 27 years old. Any advice about the results? The sonogropher at the time of the scan said the fluid looked fine and she had no worries.

I am the same age as you and awaiting my screening results. I'm not 100% sure but I think if you wanted to be sure, you'd need to get a private NIPT test or amnio, although I don't know if they'd do amnio on the NHS if it's low risk.

I also had similar results between dc1 and dc2 with regards to them both being low risk but 1/10000 and 1/1500. Strange!

Were you worried with the result? I think I will speak to my midwife on monday as it says low risk but just seems a large jump from 10,000 to 1500! :/

i did look into the NIPT privately, I definitely don’t want to do the amnio though due to the risk (even if small). I will ring my midwife or the ante-natal team for more help! Thank you though

Why did you assume the risk would be the same again? What would have even been the point in taking the test in that case? It’s a different fetus so it makes sense the results would be different. It’s still a very low risk, only 1 in 1500 babies born with your result would have Down’s syndrome. It’s really a low risk. It’s not even a 0.1% chance, it’s something like 0.07%.

I wouldn't even bother stressing yourself about this and just pay for a Harmony test to put your mind at ease.

1/1500 is still very low risk. Mine recently was 1/300, which is still classed as lower risk, or 0.003%.

Hi Op, I had my testing a few months back and my results were 1 in 5,000 which worried me as previously all my friends were 1 in 10,000 or higher. I phoned my trust to clarify and they confirmed 1 in 5,000 is now the lowest number they offer and this is now being rolled out to many trusts. So you may just want to check this is the case at your trust with your midwife.

With my first DC two years ago the odds were 1/100’000 for ed/pat and 1/10’000 for ds. This time it’s 1/5000. I’m assuming they just reduced the maximum in our area. I am 33 now, but my friend (also having her second) is only 27 and had the same odds last time and this time as me.

I've read lots of threads on here where posters have said apparently all or most of the NHS trusts now only present the lowest score of 5000 rather than the previous much higher scores.
1/1500 is still incredibly low, but at the same time you are slightly older so it will go up, but I'm not an expert on these scores by any means.
I'm 33 and had a similar score to you and I did choose to pay for the NIPT privately. It wasn't medically necessary as such, but it did ease my mind, especially as I have two other children and wanted extra reassurance this time.

Sorry I did miss a part of your point that it’s 1500 this time. That’s still good odds. I think it’s 1/150 when it becomes a higher chance.

They’ve changed it in the last few years. The best result you can get is 1/5000.

you can no longer get 1/10,000 as an NHS result

1/150 is the threshold for concerns

Definitely do the harmony (nipt) test. It is much more accurate and will give you peace of mind.

Hey, was everything ok in the end? I am in the same situation and stressing so much x

Hey, I have same numbers as you and I am 32. Was everything ok in the end? Did you choose to further test?

Hello, no I didn’t have any further testing. I spoke to my midwife and she had said various reasons for the number and not to worry, so to be honest I did put it to the back of my mind through pregnancy. My little one is 4 months old now and absolutely perfect!

Wish you the best and try not to worry! The tests can never be 100% anyway. I did have various growth scans and asked a couple of times during the scans regarding DS characteristics and the sonographer never saw anything

Thank you so much for taking the time to reply 🫶 yes I’m trying to put it to the back of my mind to. I will ask similar questions at my 20 week scan and I guess unless anything else is picked up, I will just try and relax.

You’re welcome, I know its hard to not worry especially as the wait from 12-20 week scan seems so far, but hopefully all will be fine. Hope the rest of your pregnancy goes smoothly, they’re worth all the stress 🥲🫶🏼