1 in 5 chance for DS

[Mimmi22]

I’ve just received results of my screening tests for the 3 tests at 12 weeks and have flagged as a 1 in 5 chance for the baby having Down Syndrome.

I’m 36 so I know that automatically pushes the chances higher and the NT was 3.3, which the midwife described as on the higher end of normal. I don’t have the exact results of the hormone tests as I’ve only received a phone call so far, but apparently my HCG levels were 3x the standard, but my Papp-a wasn’t low and was showing in the normal range.

I suppose it must be the high HCG which pushed the test into the very high 1/5 risk category and am just struggling to come to terms with this. Has anyone else experienced v high HCG levels before?

Apologies if this thread is a little rambley . I’m mostly just spewing thoughts and trying to come to a decision about what to do next. I have a 2 year old boy who I had a completely standard pregnancy with apart from him flagging larger than gestational average at 36 weeks and being born at 8,15lb so on the larger side of things.

Sorry that's scary news.

Have an amniocentesis then you will know for sure.

They are really very low risk these days as they use ultrasound to ensure they don't hit the baby with the needle.

A NIPT/harmony test will tell you for sure. It's not invasive, just a blood sample from your arm. The NHS may provide it if you're high risk? Otherwise you can get it done privately. It doesn't take much to be classed as high risk so try not to worry (easier said than done I know)

Have a harmony test and you'll have a definite answer.
Then if the DS is confirmed, during your decision making process, I would say try and not tell too many people as it is your decision whatever you decide to do, and you don't want to be influenced / judged! X

Also, there is are 4 in 5 chances your baby is coMpletely normal. You age will have put their algorithms in the high risk category for starters!

I had high hCG 2.2 but low nuchal 1.7 (or 1.9). lower Papp-a but not below limit, 0.67 (or 0.76 - my memory is shot with this pregnancy )

At 42 years old that gave me 1:77. I would have had 1:100 just from my age, even with good hCG, they told me.

I’ve read hCG is increased when having a girl, which I am.

Get the nipt. It’s very accurate if it comes back negative (1:10000). It’s not that accurate for positive results (had a much higher rate for false positives than false negatives which almost never happen). So if you get a negative you’re clear, if you get a positive, you can then get the amnio.

good luck, I’ve seen cases here with high rates and positive outcomes.

Thanks all so much for your replies.

Yeah, I have to remind myself that although 1/5 sounds terrifying, it’s still 4/5 chance that everything is clear.

The NHS provide all the extra screening for this risk level, so leaning towards the nipt, because it’s non-invasive, and going from there.

I wish I could remember what NT my son had now. I’m intrigued to see if his was high because he turned out to be big a boy. I know it doesn’t really mean anything clear cut in this case, but my brain wants to over-analyse everything.

Hi @Mimmi22
i know some time has passed since this thread and hope you don’t mind me messaging but your situation sounds very similar to mine at the moment, I’m 36, my baby has been given a 1 in 5 chance of having Down syndrome and I know my HCG level was about 3 times higher than it’s meant to be. I’ve been a mess since I was told and think about it all 24/7.
I’ve had the NIPT test and awaiting results but just wondered how things turned out for you and if you went for amino or NIPT? Hopefully things went well for you 🙏🏻
thank you in advance.xx

Oh @Hi1986 I am sending you all the best. Waiting for the NIPT is agony - I couldn’t think of anything else either when I was expecting the results

We opted for the NIPT and were very lucky that it came back low chance for DS, so we didn’t pursue the Amnio. Our beautiful baby girl was actually born this week and is so far completely without signs of any chromosomal “abnormality”. I must say that until she arrived there was still a slight question in the back of mind that there might have been something with her, so if you couldn’t live with this then go for the amnio for peace of mind. We sort of decided that if she beat the odds of a negative NIPT (very small chance) and ended up with a chromosomal issue then what will be will be.

Do you know what your Papp-a score is with your bloods? I think the difference between the HCG level and that can be more significant than the high HCG level on its own.

Best wishes 🌺

@Mimmi22 That is wonderful news, thanks for providing an update. It’s news like this that gives those of us in limbo a glimmer of hope.

Hi, just thought I would share my experience. I have 4 children already, my eldest being 20! I am having a surprise pregnancy at 42 years old. We were given the NHS screening test which came back at 1:18 and NF was 2.99 mm.

I refused amnio due to risk of miscarriage and opted for NIPT instead Came back as high risk. I have researched and researched and researched and accepted baby will have DS. We are under care of fetal medicine and baby is doing fabulous. Currently 30 weeks. I experienced fear, anxiety, cried lots etc at first but have now accepted it and am actually excited. She is just a baby at the end of the day and will just be a different journey with this one. I am determined to make it work and for her to have a full and happy life xxx

@yarnmum hello, thanks for sharing your experience. I wanted to ask whether your baby was born with DS? X