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Antenatal tests

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Original poster

Combined results 1:3 for DS at 39 (nearly 40)

14 replies

Jennih83 · 13/04/2023 10:27

Hi all,
I had my 12 week scan at 12+3 last week. Baby was bang on size wise and the midwife got all the measurements. She made a point of showing us all the different parts of baby from its feet to its brain which was reassuring and amazing!
She commented that my uterus was retroverted so made the scan ‘technically difficult’ according to the notes we were given.

My readings were:

Age: 39 (40 next week)
NT: 2.5mm (normal range up to 3.5mm)
hCGb: 2.38 MoM
PaPP-A: 0.44 MoM (nurse said below 0.41 considered low)

I had the dreaded call on Tuesday to say our risk of DS is 1:3! I never thought it would be that high so was completely floored.

On Tuesday I was devastated, yesterday I spent researching. As most readings are within ‘normal range’ could my age be skewing it abnormally or is it the difference between the two hormone readings? Or am I clutching at straws?!!
We had bloods done for the NIPT yesterday and hoping we find out tomorrow but probably on Monday.

I started with a likelihood of 1:117 apparently so we were always going to be high risk and have to go for extra screening - not that I’d clocked that before.

I wish I’d done more research before the scan last week as I would have asked so many more questions about soft markers etc. I also think I would have gone straight for an NIPT earlier rather than waiting for an algorithm to terrify me.

Combined results 1:3 for DS at 39 (nearly 40)

OP posts:

honeybunsleo · 13/04/2023 11:24

Yes your age will 100% be a factor, my friend had a really high risk too. Scared her to death. She opted for a cvs test which came back all clear.

On another note at my scan everything was fine but the baby has the bowel outside, I had a low risk down Edward's etc, but once they discovered that they said my baby was a very high risk of downs Edwards's ect. I had a cvs too and all was clear. It's a scary journey pregnancy but the fluid measurement is positive :) xxxx

Whentwobecomesthree · 13/04/2023 16:04

Your age will be a factor but unfortunately it's just part of the calculation. For instance, at 40 my background risk (due to age) was 1 in 75 but following the testing (NT and bloods) my adjusted risk was 1 in 467.

Unfortunately it looks like your other results have pushed you towards higher risk. Hope it all works out and your NIPT results come back quickly

Whentwobecomesthree · 13/04/2023 16:05

Apologies, I realise that is probably not what you wanted to read when you were looking for reassurance. But equally I didn't want you to misunderstand how the combined test works x

ONCanMum · 15/04/2023 05:44

Hi Jenni, I have no answers but our numbers aren’t too far off and I am also at a 1 in 3 risk. Thinking of you and hoping that we both find answers soon.

Littlegoth · 15/04/2023 06:21

I’m under a recurrent miscarriage clinic but I was offered the NIPT there (through the same hospital) in my first pregnancy as they were running a pilot and knew my risk would come back high as I had low pappA and also due to my age (38 at the time). Came back fine. I’m pregnant again and the pilot has finished so I paid for NIPT and to be honest if I have friends that are pregnant in their late 30s I recommend they do too. I could have waited and had the triple test first so the NIPT was covered on the NHS but I knew it would have come back high risk, I would have worried and it wasn’t worth the stress to me.

The triple test isn’t really reliable - it’s got a huge margin for error (10-16%) whereas the NIPT looks at foetal DNA giving over 99% accuracy. Hopefully we see you back here early next week letting us know all was ok xx

Original poster

Jennih83 · 15/04/2023 06:57

Thanks all, we had a very late phone call yesterday to say that we were low risk for all trisomy's tested in NIPT which was amazing to hear - not sure its quite sunk in yet.

The more I read about the combined test and the heartache and distress it gives women, especially older women, the more I wonder why we aren't just given the NIPT as the standard if our starting odds are likely to put us as high risk anyway unless we have perfect bloods.

I hope anyone else waiting for results with the same odds gets the same good news.

OP posts:

Codlingmoths · 16/04/2023 07:59

@Whentwobecomesthree why would the background risk be 1 in 75 at nearly 40? I thought the at 40 risk would be 1 in 110 or similar so wondering if it’s higher than that….

littlemissalwaystired · 16/04/2023 08:18

Sadly the reason the NIPT isn't used for everyone is it costs over £500 a time and the NHS just doesn't have that money. Glad your result has come back low chance now though, congratulations on your pregnancy

Original poster

Jennih83 · 16/04/2023 08:23

We were told my starting risk was 1:117 at 39 about to turn 40. The cut off for the NIPT test is 1:150 or shorter so unless bloods come back as perfect with a good NT score, the risk factor will always come back high and within the cut off for the NIPT.

OP posts:

Whentwobecomesthree · 16/04/2023 08:33

@Codlingmoths Not sure, that's just what the background risk is on the report they gave me. It was a vanishing twin pregnancy so possibly that influenced the original risk calculation too. It's the same background risk in the SAFE report too

Ithurtsthebackofmyeyes · 16/04/2023 08:41

Because it costs a fortune. I was ‘high risk’ for my first in my early 30s, wound up having an amniocentesis as it was all a mess, and then my second was super low risk but I opted for the NIPT privately anyway.

Littlegoth · 16/04/2023 16:18

That’s exactly why the NHS pilot was discontinued - it wasn’t cost effective (and that was with the patient paying £275 towards the cost!).

privately it’s cost me £450 a time but worth it for peace of mind. I strongly feel that women that will automatically come out high risk due to age should be told up front x

Littlegoth · 16/04/2023 16:19

@Jennih83 pleased to hear it’s come back all ok x

101HK · 16/04/2023 21:37

I’m actually a case of an NIPT coming back low risk and my son being born with Down Syndrome so in all honesty my advice to anyone that comes back high risk from combined screening is to have the CVS if you really want a definitive answer. I have since met a few other mums that had postnatal diagnosis of DS but low NIPT and told 99% accurate so go away and enjoy the rest of pregnancy! I really do doubt the accuracy rate to be honest. Sorry as I know that’s not what you want to hear but I like to warn others if you really want to find out x

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