1 in 3 chance of Down’s Syndrome on Combined Screening

[HopingSoHard]

Hello,

I’m wondering if anyone has had a similar experience or has any advice on coping at the moment?

I had a call from the fetal medicine team to advise that our baby has a 1 in 3 chance of Down’s Syndrome from the combined screening. This was due to a high hCG and low PAPP-A although they didn’t provide the numbers. The NT was normal at 1.4.

We’ve had another scan with a consultant who advised they did not see anything out of the ordinary but explained this can still be common in those who do go on to have Down’s Syndrome confirmed.

We have opted to have NIPT as the team were reassuring of its accuracy at detecting Down’s Syndrome. We did feel the midwife was a bit surprised at us not choosing to go straight for invasive testing though. Due to a previous miscarriage I would have found the small risk of this difficult.

Has anyone had a similar experience or have any advice on coping with the 7-10 day wait for results?

Not the same odds at all, but mine came back higher chance, 1 in 66, age 39, all turned out to be fine after NIPT. How old are you because I was basically told at 39 I’d be likely to be high risk unless bloods were perfect. Our NT was 2.7 so higher than yours. They should have sent you a letter / email that has your numbers on for HCG and Papp A, if not you should be able to ask for this, my midwife said they’re not usually overly concerned about high HCG unless combined with very low Papp A - and they also should absolutely not be giving you any pressure at all about invasive testing, regardless of the odds, if NIPT comes back higher risk they’ll offer to you again anyway. The 7-10 day wait was horrendous, I was told 5 days and chased mine daily from them on, the ladies were always very sensitive and never made out I was being annoying lol. It is a horrendous time though, that waiting is the worst :(

Thank you so much for taking the time to reply and share your experience. I’m 34 so definitely at the stage where age is a factor but not as much as it is for others.

It might be that the letter with the details of results is still on its way as they were very quick at seeing us after their initial phone call. I worry that my numbers must be pretty wild to create a 1 in 3 chance though despite the normal NT, non smoker, no obesity, no health conditions of my own etc.

I’m constantly flipping between high levels of anxiety/upset and trying to rationalise that there’s still a reasonable chance of the NIPT returning a lower chance outcome, and also that it’s my bloods results that are abnormal whereas the investigations directly taken of the baby (NT and consultant scan) haven’t shown anything atypical at this stage.

Did you just try to distract yourself as much as possible during the time you were waiting on the NIPT results? I’m in two minds whether to stay off work or whether trying to keep to my normal routine is sensible.

i assume you are not in the uk?
we have yes / no answer from a blood test
is there anyway you can request that ?

Hugs to you OP. I’m a very anxious person and was a bag of nerves throughout the testing and waiting process. I would personally carry on keeping to your normal routine as much as possible so you’re not sitting around overthinking. Hope everything works out for you x

I am in the UK and have had NIPT bloods sent which will either come back lower chance (chance of 1 in just over 1000) or higher chance (91 in 100 will go on to have a diagnosis made if they proceeding to invasive testing). Please can I ask which blood test you’re thinking of?

Hi I have been through this... I was 33 and the pregnancy was picked up as a 1 in 5 chance following a harmony test. A subsequent amniocentesis confirmed Down syndrome for us, but remember the odds are still in favour of that not being the case for you. It was a difficult time though, so please be kind to yourself. Happy to answer any questions you might have.

Thank you for your kind message. It’s reassuring to hear from others who were also feeling very anxious and I agree I don’t think it would do me good to be sitting around overthinking. I’m nervous about getting emotional at work or not being able to do a good job too. I’ll maybe see how I am on Monday and hopefully another day or so of the current situation sinking in will help me feel a bit stronger.

I think this is different for everyone, but for me I’d always rather be at work during anything like this, just because there’s absolutely nothing you can do during that wait to change the outcome (unless you need to spend some time processing what a DS baby would mean to you and what decision you would make) - and I know if it was me I’d just be here or on Reddit reading all the worst outcomes and absolutely spiralling. That said, I think you’ll know how you feel come Monday and just trust your gut - if you’re sitting at work thinking ‘I absolutely am not okay to be here’ then go with that. Whatever you feel you need day to day and just be kind to yourself as others have said. For me the distraction of work helped and made the days go faster, but if that isn’t what you find, take that decision then.

Thank you for sharing your experience as I appreciate it must have meant thinking back to a really tough time for you. It really knocked me sideways when the midwife said “we contact those with a chance between 1 in 2 and 1 in 150…and yours has come back at 1 in 3.” Thank you for offering to answer any questions, I might come back to you especially if the NIPT results show a higher chance.

@HopingSoHard I’m in a similar situation to you but not the same odds. I received a 1 in 26 chance of Down syndrome from the combined screening tests at our 12 week scan. The NT was normal at 1.2 and the only blood test that was abnormal was Papp-a which is at 0.19. The midwife said although she can’t say for definite why I’ve flagged as high risk it’s likely to be the Papp-a as it’s very low. I had the NIPT test on Friday and it’s up to a 10 day wait for the results. Although the midwife said we should know by next Friday.

It sounds like we are in a very similar boat including the timings/when we might hear a result. Fingers crossed for both of us that we hear next Friday rather than waiting through another weekend. I hope you’re feeling well supported by those around you and hopefully we can support each other too.

@HopingSoHard thank you, I hope you’re feeling supported too. It’s comforting to be able to talk about it with someone in a similar position too. Since I found out I’ve read a lot of old threads on here from people who also received a high chance combined screening result but have gone on to get a low chance NIPT result.

That’s a misconception. You are talking about the NIPT which is not diagnostic, it just gives a more accurate ‘score’ than the combined screening test. Amnio and cvs are diagnostic.

I really have my fingers crossed that both of us receive a low chance NIPT result. At least that’s another day past and closer to getting the results now too. Have you spoken to ARC? The midwife suggested I give them a call and they were really lovely. I didn’t have lots to discuss given we had decided earlier that morning to opt for NIPT but they were reassuring and I’d definitely give them a call if the anxiety is getting too much while waiting on the results.

Me too, fingers crossed! Hopefully the results don’t take too long. No I’ve not spoken to them but I might give them a call. The screening midwife said I could also call her too. I’m at work Monday to Friday so I’m hoping that will distract me a bit. Although I’m nervous about answering the call in the office, not knowing what the outcome will be.

Yes I really hope we both hear before the weekend. My midwife has been hopeful of this and it sounds like there’s a good chance for you too. How have you been getting on at work this week? I’ve been trying to stay as positive as I possibly can and have also banned myself from googling any more. I totally get your anxiety about answering the call at work. Really hoping it’s bringing you good news though 🤞🏼

Mine said it’s officially up to 10 working days but most likely we would know by Friday morning. So fingers crossed you do too🤞 couldn’t imagine having to wait another weekend! I wish I was strong enough to ban myself from googling about it, I think I’ve read every forum thread about it at this point! Work is taking my mind off it, it’s giving me a bit of normality when I’m there and helping me put it to the back of my mind. How’s your week going?

Hi OP, I'm in a similar boat as I got a call regarding a 1 in 18 chance today and went for the NIPT. Totally worrying time and hoping you have favourable test results. Let us know how you get on

I had an update yesterday that they are confident of a result before the weekend now so that’s a little bit of good news. I totally understand about googling everything and you’re definitely not alone. I was doing that over the weekend, taking myself down rabbit holes and upsetting myself too much so had to stop. I wish there was something that could influence our situations but it’s just such a hard waiting game. I think my coping strategy is to almost convince myself that good news will be coming just to get through the week. Fingers continue to be crossed for both of us!

Hello, I hope you’re doing as ok as you can be. The initial phone call is such a shock, isn’t it? It’s so worrying and totally out of our control. Have they suggested 7-10 days for your NIPT results too? Hopefully they come through sooner rather than later. I will definitely update once my results arrive. Take care of yourself and try not to panic, although I know it’s easier said than done!

When they said they were calling about screening results I just knew, but yes was a total shock as my son had come back as 1 in 25,000 for DS.

They did say it would take about a week and I have a busy weekend planned so hoping to distract myself! Is this your first? Fingers crossed you have your results by the weekend

That’s good that they’ve been able to confirm it will be before the weekend. Hoping it’s good news for you. I’ve convinced myself I’m going to get a call tomorrow, last time she rang it was 8 in the morning, hopefully it’s early again. One thing I keep trying to remind myself of is that nothing I google can change the outcome of this result, it was already decided months ago.

I really hope the time passes quickly for you and it’s good to hear you’ve got a busy weekend to help keep your mind occupied too. I had a first trimester miscarriage a year ago and was so delighted to have a scan that the sonographer was very happy with at the start of last week and so I just really wasn’t expecting a call about the screening. Anyhow, all of us on this thread are in it together now and we need to be hopeful while waiting on the NIPT results.

It would be really good if you got the call tomorrow morning. I’ll cross my fingers that your feeling about it is right and they are phoning with good news! You’re absolutely right that the outcome was decided months ago and can’t be changed- there’s something slightly calming about thinking like that and what will be, will be. Hopefully what will be is a happy phone call for each of us from the hospital though!

Sorry you’ve found yourself in this situation too. I’ve been given a 1 in 26 chance, did the midwife mention which of your bloods was flagged? Or was it the NT measurement? For me my Papp-a is very low but all other bloods and the NT are normal.

It’s such a worrying time, I’ve been trying to keep as busy as possible with work and plans with friends/family.

I’m glad the three of us have each other on here to talk to about it too.