1 in 16 chance of downs syndrome

[Mummyo1]

I've spent hours crying. I've had the call to say my scan was normal, babies fluid on the neck came back as normal but my blood tests showed high hcg and low papp a. I'm low risk for Edwards and patau syndrome but high for downs syndrome 1 in 16. I've got a nipt tomorrow. Anyone else similar and be okay? I'm heartbroken 💔

Wish I could say something that would ease your mind.
Just know I've been there.

sorry, meant to say, you're not alone in your worry.

I am going to say to you what my obs said to me. It's 20 years so I can't remember what the odds were.

My obs said to me, "wouldn't you bet on a horse with those odds?"

I was 40 and I chose not to have amnio because I wouldn't have terminated either way, and DC was completely fine.

F

I will update this when I get results. I'll just be positive and keep myself busy until then

What were your blood results, and how old are you?
I had high HCG, I think it was 2.7ish low Pappa which was 0.35ish and normal fluid, aged 34. Came back 1in70 chance so not as high as yours but I was still very worried, so understand some of what you’re going through. Had the NIPT which came back low risk and baby born healthy x

@Orangenights they haven't actually given me numbers. I'm 28 and I'm low risk for edwards/patau syndrome but high risk 1 in 16 so 6.25% chance of downs based on high hcg and low papp a. NT was normal, scan was completely normal

Was NT low normal? Did they examine the bridge of the nose? DS couldn’t get a clear result via scans but as he had a really big nose bridge and low / normal NT DS was ruled out immediately. I didn’t need a nipt.

I would just like to echo what someone said earlier- Google isn't your friend. I spent the week googling everything about the test- I have a science background and read all the research. It never made me feel better. After i got my low risk NIPT I asked my consultant what caused my insane hormone results (my bhcg was 6 Mom), he just shrugged and said that sometimes it happens. I just hope you get your NIPT result back quickly and its low risk.

My NT was completely normal everything was fine on the scan, they just said all that's flagged is my bloods, I've not looked at Google since as I'll just work myself up, but talking to people who understand helps

I was 1-42 for downs because of my hormone results too (same as yours) and my age (37 then). Baby scan was normal. little one totally fine when born too!

the hormones are the soft markers, along with your age. Baby scan being normal is a good sign.

we had the genetic testing and that was very reassuring. I still had a tiny ‘back of my mind’ worry until he arrived but I knew it was just one of those normal anxiety things!

the fetal medicine team are some of the nicest doctors and midwives I have ever met, if that helps.

Had similar hormone profile/scan for my first baby but because I was only 34 then my result was 1-2000!

I'm 28, oxygen all that malarkey is good I just have higher bmi. I'm hoping it's wrong and my nipt comes back normal! How do you get the nipt? Also is the gender stated?

Gender is only given if going privately, not NHS.

I had a phone call from the lovely midwife looking after me. Was terrifying but she was lovely.

I was 1 in 25 - same as you low Papp a, high Hcg, scan normal, fluid normal and nasal bone
Nipt came back low risk after

Just a heads up I had mine in NHS and they don't tell you the gender as they don't ask for that information.
I also had to have it done twice as first was inconclusive

Fingers crossed you will be fine

I'm hoping mimes a call, I really don't want to read through an email, I've seen lots get gender on the NHS when having a nipt mind, maybe depends where you are. I just have to remember, I have a 93.75% chance everything is okay, and they've gone off my blood results not babies dna and my scan is okay, I can't talk myself into reassurance but its very comforting to talk to others who have the same

I'm sorry you are going through this. How far along are you? I'd paid privately for the NIPT at 10 weeks and it showed patau. I realise this is different to Downs. I had a more detailed scan, at 11 weeks, and there were very obvious things wrong on the scan. NT was 6.5mm, cleft face and more. Its great that your NT and scan were all normal. You might find it helpful to talk to ARC also. Wishing you all the best ❤
Antenatal Results and Choices (ARC) – non-directive information and support before, during and after antenatal screening (arc-uk.org)

I'm 12+4 I'm praying for a good outcome, my screening for Edwards and patau are normal it's just downs I'm going to ask for more info tomorrow when I have my nipt, it's a 1hr appointment, god knows why it's so long

Hey. 😊I don’t think anything anyone says will stop your mind from racing but…I had a 1/35 chance with my second. I was the same as you in that the scan and fluids were normal. When I went for my appointment at fetal medicine for the NIPT test (vey grateful that these became available on the NHS the year before) I saw my PAPP-A levels circled in red. They’d been low in my first pregnancy and so I was monitored for growth throughout the pregnancy (he was 7lb15) and the levels for the second pregnancy were even lower, about half of what they were before. When I saw the risk results it was clear that the PAPP-A score was the driving factor and so I felt a little less worried as it hadn’t caused any problems for me in my first pregnancy. I had the NIPT and it came back as very low risk (99.9% accuracy) and so we left it at that. I gave birth to a health baby girl last summer 😍

@MrsR87 I'm really pleased it all worked out for you, I'm aware this is just my hormones they've checked and not babies, I'm hoping my nipt is all good, but the worry in the mean time is hard, I know its all just generated and a result is given which is why the initial screening isn't as accurate

Oh yes, the wait is agonising. I remember that I got the initial call to tell me the 1/35 chance from the first tests when I was in a 10 min break at parents evening! I’m not really sure what I said to the rest of the parents as the whole evening just passed in a bit of a blur. Once I’d had the NIPT, the results came back quite quickly so I hope yours do too. It’s really quite amazing that they can isolate baby’s DNA from our blood!
I hope it goes well for you x

She said results can take 1-2 weeks but I'm hoping that's worst case and they come back sooner. Waiting will be hell! Fif they call you with yours? Or were they emailed to you?

I was 1 in 12.
Had amniocentesis.
They wanted to discuss termination options before the results came through. I refused.
No issues found there.
They were convinced that there was an issue, so we were sent to Oxford for heart scans at 24 weeks-ish.
No abnormality detected.
Oxford were fabulous.
It did make us anxious throughout the pregnancy, because they seemed so certain of a problem.
She just started secondary school, and never any concerns.

@Mummyo1 my results were back within five days and they felt like really long long days! It was one of the fetal medicine midwives that called me to give me my results. I’d given up hope for that day as they class at 6.30pm and she called at 6.29! I guess it depends on the trust though.

Good luck op, fingers crossed for you

Just to note it’s sex that you are determining when pregnant.