High Risk for Down’s, Edward’s and Patau’s

[FenellaFurchester]

Really panicking.

My 12 week bloods have come back as 1 in 66 for downs and 1 in 36 for Edward’s and Patau’s. I know part of this is down to my age (39).

I’m a bit beside myself right now. Booked for NIPT blood test in the morning.

Does anyone have any experience to share?

I'm so sorry you're going through this and can only imagine the stress. Not personally, but I've seen so many instances where the screening comes back high risk but the NIPT comes back fine.

I know nothing can stop you worrying, but definitely don't lose hope. Even with figures classed as high risk, the odds are still very much in favour of a healthy baby.
💕

It’s not unusual for your age but you must have known that. I think it’s a temporary worry. You either go ahead or you don’t. It’s just what life throws at older mums.

My daughter who was only 20 was 1 in 2 for downs even though negative for NIPT they still treated her pregnancy as though it was, kept trying to tell her about abortions. Well baby was born with no down syndrome, they did think she had a genetic condition but tests came back with nothing found. She is now the most adorable 8 month old

Thats a 97% chance baby is completely healthy.
Wishing you the best for the results ❤️

@springautumn Everyone has to make their own decisions and weigh up probability and how they feel about bringing up a baby with downs. I’m glad your DD was in the 50% ok bracket but others won’t have been. We all have had to look at probability and make decisions and most of us are older as often younger women don’t get tested for anything as probability is very low.

Thank you for the support.

The Downs chance doesn’t concern me as much but the high chance of Edwards or Patau, it seems so high and terrifying. I knew my age would be a factor but I wasn’t prepared for such an increase.

I did have low Papp A with my little boy who was born fine at 40+5 and 7lbs 10. So I’m hoping that age and low Papp A are the cause of the results. My scan was fine, there was nothing of concern on it and the sonographer was very thorough.

Thank you for this, I hadn’t had the presence of mind to flip the probability while my head was spinning. It’s a really reassuring number to calm my worries a little ❤️

Give the ARC a ring they are lovely.
We had 1 in 76 for Edwards and pataus. Worst week of my life waiting so I feel for you.
It does seem like your age will have bumped up the result, remember it is just screening. Like you I had low papp a and baby was a little small but totally fine.Interestingly I looked and papp a was only just above the threshold for low with my first born too.
If no soft markers were seen on the scan that is very reassuring. Wishing you all the best x

Hi I just wanted to say as I’ve seen a lot on here that the age bumps up the risk but when bloods are taken the individual risk is just mainly based on that. I’m 39 also and my age did not bump up my risk. I’m low risk but still considering a private NIPT just for peace of mind. I think it’s more likely your Pappa A levels maybe have been low like before and that’s what’s flagged your sample, maybe along side higher hcg levels, which can have other reasons. I’ve seen posts where people were given even higher risk chances and their NIPT came out low risk so just keep positive because it’s more likely your result will be clear x

Thanks for the replies.

I’ve just read a thread of someone with similar odds to me with a very tragic ending so I’m really spiralling now. Utterly terrified.
I guess I just have to try to stay calm and keep hoping for the best.

Try really hard not to google, especially not for Edwards or Patau.

I went through your nightmare 9 years ago, I'm currently lying next to my wonderful sleeping daughter with DS. It's not always been easy but she's wonderful and a blessing.

I wish you all the very best

As @FairlyTiredsays the likelihood of baby being healthy is really high. The NIPT is something like 99.9% accurate so try not to think about it till then - results should take up to a week / 10 days and hopefully will have low risk results!

I had a 1:11 risk of downs last year - I assume because of my age (36) but baby also had a bigger than average neck measurement. She's here now and completely healthy, and my hospital changed my 20 week scan so it was done by a consultant and in huge detail for reassurance which helped a lot. Relatives of mine have had 1:2 risks for downs and Edwards and all times, the babies have been perfectly healthy thankfully. Just putting some positive stories out there - I know how worrying it is so hope you're as okay as can be considering. Sending positivity your way, do let us know if you want to share your results when you get them!

I has given a 1 in 47 chance. I was 38. My DD is absolutely fine. We had an amniocentesis but I understand the blood tests have since come a long way; we just wanted a diagnostic test at the time to be 100% sure. Try not to worry, it’s a high probability everything is fine

Please try not to read the threads on Edwards and pataus. Its an awful condition and you will generally find the tragic stories if you search, people don't post so much with results when they get the all clear x

Try not to worry (easier said than done). I’ve read loads of stuff recently about these test results really unnecessarily worrying mums when in the vast majority of cases their babies are absolutely fine.

The scan being fine is very much a positive, in my daughters case baby had fluid on neck and tummy, but still it turned out okay in the end. Even tho she is much younger she had such high odds on top of the babys fluid so I just wanted to show that it can be okay.

Also bear in mind at 40 your risk was already 1% for downs syndrome, so the scans only actually increased it by about 2%, you've gone from 99% to 97%.
Then once you've had it checked it will likely go to 99.9% a healthy baby

This isn't supportive nor showing understanding by the way.

When faced with these sorts of odds 20 years ago (pregnant with DD at 41), I thought about a display of apples with one bad one in there - how likely was I to pick out that one bad apple? It helped put my mind at rest. My daughter was born without Downs or any noticeable birth defects.

We did later find out she had cerebral palsy (and later stll, ADHD), but neither of these could have been known in pregnancy. It just goes to show, you never really know what your baby will be like until you have them as a child.
DD graduates from uni this year. She is a gorgeous, sparky young woman, who triumphs despite her disadvantages. I'm very glad I didn't fear the chance of picking out a bad apple.

Thank you for the replies and support.
I had the bloods taken for the NIPT today.

I have my combined screening results, my HCG is on the lower side (0.57 MoM) and PAPP-A is low, as expected at 0.17 MoM along with my age these are the factors that have led to the probability.

Baby’s scan measurements were all fine NT 1.5 and overall measurement 57.1mm. I saw both brain hemispheres and the heart chambers on the scan. I’m hoping I can feel reassured by these and just hoping for good news from the results.

Every thread I read with similar numbers to mine seems to have a tragic ending, so I’m really full of dread.

Thank you again for the support.

This is what I’m hoping, as every thread seems to start like mine and then end tragically. I’m probably not seeing the endings of the positive ones.

OP, I remember my work colleague beside herself with anxiety about these tests and the numbers she was given. She gave birth to perfect twins, a boy and a girl. It really did make me wonder whether all this ott information was actually detrimental. Another had high Downs numbers, her kid hasn´t got Downs. Wishing you and your little one all the best.

My first son had Edwards, it's a powerful condition and was very clear on the scan due to various very visible defects.

A healthy looking scan should be really reassuring, I know you still need to work through tests for confirmation but be optimistic 😊

Thinking of you

I'm sorry you are going through this OP. When I was 38, I'd paid for the NIPT at 11 weeks and it showed Patau. I'm glad your scan looked normal. For context, ours had obvious, physical issues that even I could see on the screen when pointed out. The NT was 6.5mm.

I can't recall the combined test results or percentages from that. I was offered amnio or CVS, but after discussion with the consultant and scan results, I chose TFMR. The autopsy confirmed the diagnosis too. I'm happy to answer any questions you might have.

I agree with another poster, that ARC can be a good, support site. Did they say when your results will come through? Your results do show only a very slim chance, plus, your scan looked normal which are both extremely positive things to focus on x

So sorry you went through that ❤️

Thank you for the advice and the kindness.