1 in 4 risk of Downs Syndrome - feeling overwhelmed

[Sparkle555]

We had our scan last night, dated me at 13wks 1day and sadly told after the scan and bloods it's a 1 in 4 risk of DS. All the information we were given was so overwhelming and hard to take in whilst trying to keep myself together-I just wanted to curl up and cry. I'm 36, the NT was 2.70mm upper limit of normal but the bloods really bad hGC 4.34 and PAPP 0.65 so it's the bloods that dramatically increased the risk (just the scan it was 1:189 which feel like amazing odds now). We've opted for the Harmony blood test initially so now have an agonising 2 week wait. I can't quite believe the range of thoughts and feelings I've had in less than 24hrs-it just feel very bleak and I feel guilty for this but I don't want to spend the next two weeks being "positive" when the outcome and decisions I need to prepare myself for and fairly quickly seem very likely. Sorry for the long post-my heart is torn up.

I'm sorry you're going through this. Horribly stressful time. With my 1st I had a 1 in 25 after the results of the blood test and there were soft markers for abnormalities too. Life was just on hold for an eternity until the results came back. All was well with my DS. A good friend of mine had a 1 in 3 for downs and her dd was also fine. I hope everything goes equally well for you.

Thank you so much for replying. It means a lot which sound daft from a complete stranger. I feel like I have no one to talk to (which is more about me than my lovely friends and family). I've gone around in circles with positive thoughts and negative thoughts. My logical self is trying to hold onto there is 'a' chance it will be ok but doesn't look good hey. I know I will be ok in the long run but the waiting is truly horrible. Thank you again.

Well statistically, 3 out of 4 women told the same as you will be able to breathe a big sigh of relief in the end, so the numbers are on your side. But I understand that the wait for the Harmony results will be tough.

Hi,

Sorry this is happening to you. I had a really similar experience with a 1:5 chance of DS. I am 33 and was completely taken aback. We too decided on the harmony test and I won't lie to you, the two week wait for the results is just horrendous. We went through a mixture of emotions from believing we were the '1' and considering the possibility of a termination (I was 16 weeks by this point) to feeling positive that a 1:5 chance meant that there was an 80% chance that everything would be ok. I Googled like mad at every chance I got and reassuringly everything I read was really positive. I took comfort in other peoples experiences who had similar odds to me ( hence why I'm posting this)!

After a really long two weeks, we received the fantastic news that bubba was fine. It was amazing to hear. Our consultant said that he had women who had odds of 1:3 and 1:4 and everything was ok with them too. He was also reassuring as he said our baby was a good size and typically, at this stage, babies with DS are smaller.

Since then, we've had our 20 week scan which was fine and two further growth scans. They requested growth scans as apparently high HCG levels can, albeit fairly rare, be connected to placenta issues. Everything, touch wood, has been fine since receiving those terrible odds and we are now just 4 days away from our due date.

I wish you well and think you'll be ok. Remember that your odds are just from a screening test where an awful lot of factors are at play. For example, if the gestation period is calculated incorrectly then this would affect your odds.

Try and keep positive....easier said than done though!

X

What a shock - you poor thing

I don't know anything about the Harmony test - will that tell you for sure or just give you more accurate odds?

It's true that the stats are in your favour (75% chance the baby doesn't have DS) but I bet it doesn't feel like that at the moment.

I hope this has a good outcome, and in the meantime be kind to yourself x

Sorry to hear you're going through this. We had a 1:75 chance of Downs result two years ago. I had an amnio and it came back positive. We made the difficult decision to terminate. A year later I was pregnant again with a risk of 1:33. This time had cvs and all was fine. Ds is now one and fab.

It is a difficult time but you must talk about what you will do if the results are not what you hope for. We didn't talk beforehand and therefore really struggled to decide what to do. We're sure we made the right decisions for our family.

I hope this is helpful. I know that when we were given such high odds it really didn't help me when people said "I'm sure you'll be fine" but rather that I knew the facts and could talk frankly about it all.

Good luck and I hope things work out the way you hope.

Thank you. This is the first time I've posted and already feel lifted by your comments. Thanks eurochick-I really am trying to be calm and remember it's odds. helsm33 thank you so much for sharing - good luck, such an exciting time. Dozily, thank you-yes the Harmony is 99.9% accurate I'm very lucky I can have it immediately on the NHS as Kings are running a research programme.

Hugs, it's such a weird 'limbo' to be in. We were given 1:11 odds two years ago, almost to the day. Exactly same as you; nuchal ok but wacky bloods.

Had CVS & amazingly detailed scan which discovered all sorts of issues and cvs came back positive. Professor at hospital advised baby was very unlikely to survive to term, so we had TFMR.

It broke my heart; we'd been trying for number 2 for over a year, had 2 miscarriages too....but fast forward another two years and our daughter is now nearly 8 months old. Our results for her were 1:285 which were hugely long as the previous pregnancy skewed her odds. So there can be a rainbow, no matter what the results this time.

Please be kind to yourself, it's the oddest and most distressing time as you find yourself trying to distance yourself from your bump....it took me longer to bind with my bump with DD until I knew all was fine. I detached myself to try & protect myself, which I suppose is normal, so please don't feel bad if you find yourself doing it xxx

Talk to ARC, they were wonderful with me xxx

Obviously I am in no position to say that the results will be negative, not at all.

But my numbers were so similar to yours. This pregnancy I had a 2.7mm nuchal, 0.79 PAPP-A and 5.43 bHCG. I'm 37 and they gave me 1 in 5.

I had Harmony and it came back negative. Baby girl born last week has no obvious chromosomal issues.

I hope the waiting passes quickly for you, it will be one of the slowest times of your life for sure.

Sparkle I'm just coming to the end of my two week wait ( I hope)
Nuchal and papp numbers exactly same as you but hcg only 2 something and I'm 34. My chances are 1/37 apparently. Not really comparable I know but I have an idea of what you're going through. And the same thing goes for you - it's more likely everything is fine.

Is it easier if you think 75% chance it's ok?

Anyway best of luck.

I'm so sorry to read this. I know just how painful and heartbreaking this is. Hoping everything works out for you xxx

So sorry you are going through this. I was 1/15 with a normal nuchal of 2.2 but wacky bloods of hcg 3.6 and pappa a 0.3. So quite similar to you. I had cvs and it came black clear. I am now 23 weeks and all looks good so far. While I was waiting for my results I discovered that bloods arw a dreadful predictor of false positives. Basically hardly anyone whoose result is driven by bloods has a ds baby. Hang in there OP and keep talking.

I have a child with Down's syndrome (we refused all testing). It's. It not as bleak as you'd think. I love my son more than you can imagine. Yes, it's a different road but I'd not say its a harder one.

If you've any questions please ask.

Thanks for the messages. crispy and grobags-thanks for sharing, good to hear about similar results. 4 days done hoping less than 10 to go although scared to take the call. It was my son's 2nd Birthday on Weds so stayed strong for that- just not the week I'd planned. I have found myself distancing myself and feeling 'less pregnant' if that makes sense but my OH is really down so that's been hard. What a sad and strange place to be-I feel stupid for not being more prepared-I was with my first child, I thought about things before the 12week scan (all was fine) but second time I didn't-which is stupid given I'm 2 years older.

Sorry to hear *Sparkle^. I had a 1:13 risk which after a quad rest ended up being 1:6. I was only 25 with a clear scan, a previous nt pregnancy only a year earlier and no family history or any other risk indicators so I was certain something was wrong for the tests to be so worrying. Ended up having an amnio and everything was fine and ds is 2 1/2 now, no issues.

Sending you my thoughts, this is a horrible, frightening time. Take care of yourself .

I had the harmony test at the fetal medicine centre and I was so nervous, but my DH kept turning the numbers round for me, so in your case, there's a 75% chance your baby is absolutely fine, and that's huge!

Good luck, try not to let yourself get too worried about it. X

We were given a 1 in 4 risk of downs with ds2. We had been given a 1 in 11 risk with ds1.

With ds1, we didnt do anything, just waited - he didn't have downs or any other genetic disorder.

With ds2, we had an amnio, because we wanted to be prepared ( due to having ds1). It was clear, but he does have a congential heart defect ( mild) and noonans syndrome. Ds1 may also have noonans , but we havnt had him tested. Noonans is a genetic disorder , and can mean a high nuchal fold ( which both our boys had) .

Anyway, I just wanted to share that both our boys are healthy, and that other conditions can lead to the risk being given.

Also ( as a good friend said to me at the time) a 1 in 4 chance means a 3 in 4 chance that all will be fine.

good luck

Oh, and ds2s nuchal was 4.6mm, so really at the extreme end!

Just wanted to wish you all the best op. Really hope time goes quickly and as peacefully as possible these next 10 days

I had a 4.6 nuchal, 2.85 hcg, 0.6 pappa and a 1 in 3 risk. The amino was clear and DS appears entirely normal.

It can happen that all is fine.

Thank you again.

My OH has gone out for the day with our LO to give me a rest but my mind is racing now I'm on my own.

Has anyone had the Harmony test via Kings? Does it take the full two weeks or worse longer? I feel I'm completely unprepared, I've read that the NHS won't carry out a termination from Harmony test result so we would have to have an amino anyway (think I'm too late for CVS) if it's positive and then I don't what my options will be based on how far I am-I'm 14 weeks tomorrow and still have another 10 days to wait for the Harmony result. I just called ARC but they are closed until Monday. Any help/advice welcome. Thanks

Op they tend to do an amnio from 15 weeks so by the time you get your results you'd probably be offered that. The risks are marginally better for an amnio than cvs.
Please try not to google! Can you keep yourself busy? Got any projects that need finishing? Films that need watching?

Agree with ginger- try to busy yourself- The two weeks will be slow, but you can do nothing at the moment. Don't google!!

Could you go for a long walk or see some friends? I know your OH is trying to help you- but I think being around people may be better at the moment- less time for your mind to wander.

I agree- being around people (even just being somewhere busy like a shopping centre) might stop you dwelling.

Can you think of it like this? Nothing you do now will change the outcome - no matter how worried you get, how much googling you do, it's already decided, you're just waiting to find out. Spending these few days upset will not change anything but trying to distract yourself and feel 'neutral' will make it easier on you emotionally.
Please don't think I'm trying to make light of things, I've been there waiting for the results and I wish so much I'd had the strength to keep myself incheck. I lost the plot and it made things so much harder and time went slower.

Fingers crossed for you. I was in the same position as you 4 years ago with a 1 in 4 risk of Downs (due to large nuchal fold). CVS was clear and he we had a healthy, lovely boy.

I am pregnant again and have opted to have a private Harmony test this time (currently in my 2 week wait) rather than combined test. I am sure you are right that no one would terminate on the basis of + Harmony test as it is a still a screening test- they would need to do an amnio to make a diagnosis

Remember that 3 out of 4 people in your position will get the all clear..... the odds are still stacked in your favour. xx