1 in 5 chance of Down’s

[HazyDays81]

Last week I received a phone call to say from the combined test I have a 1 in 5 chance of my baby having Down’s. I’m 41 so I know age must have increased the risk. The nuchal measurement at the scan was 2.3 and everything was normal. They didn’t tell me what my bloods were. I was expecting a high risk due to age but it was a shock to hear my risk is 1 in 5.

I wasn’t keen on any invasive testing so I had the NIPT last Friday and now waiting for the results but it’s constantly on my mind despite trying to keep busy.

It’s reassuring to read on here that the combined test isn’t particularly accurate and I’m just really hoping the NIPT result will give me reassurance.

That's still a 4/5 chance they haven't got it.
I know quite a few mums who were put through this worry for what turned out to be nothing at all.

I hope you get your results quickly.

Thank you @Vintagecreamandcottagepie - my husband also said that about the odds. They said it can take a week for the results but it could be as early as tomorrow. The not knowing is just a horrible feeling.

My brother got told this in regards to my nephew and they did the further testing an was told they was pretty certain he was downs, that wasn't an issue but he was born perfectly healthy and no health issues. He's now a stroppy 15 year old.....

When I was pregnant with DD I was told I had a 1 in 17 chance of her having Downs Syndrome.
I had the NIPT and the waiting for the results was awful and I convinced myself she had it but the results came back as 1 in 50,000 chance and DD was born perfectly healthy.

Be kind to yourself while you are waiting for the results.

My daughter had a 1in 3 chance that baby would have downs. She was given a CD and a folder full of information about downs to digest at a subsequent scan. The nuchal measurement was low at 12 weeks and she was originally given a 1 in 50,000 chance of downs. She didn't find this out until a 'marker' showed up on a 3D scan when she was 30 wks.

This marker doesn't show until after 28 weeks.

She had an amniocentesis and had to wait 8 days for the first results which were clear and 16 days for the second results which were clear.

Due to the amniocentesis she gave birth prematurely - a membrane had collapsed around the baby.

The wait for results is agonising. We all felt ashamed when we were relieved that her baby didn't have downs. She had come to terms with having a downs baby whilst waiting for the results. It's a very stressful position to be in.

Thank you @hellotheirsugar and @Blixem - it is reassuring to hear positive stories.

@MyOtherCarIsAPorsche I’m sorry to hear your daughter had to go through that, it must have been a worrying time for you all. I hope her baby was ok after being born premature due to a ruptured membrane from the amnio. I’ve been wondering whether to have an amnio if I come back as high risk from the NIPT blood test.

It’s pretty awful waiting for the results phone call especially as she said it maybe tomorrow when I’ll be at work. Fingers crossed it will be low risk.

How are you today @HazyDays81 ?

I found I detached from the pregnancy while I was waiting for the results and it all felt so unfair.

Hi @Blixem thank you for thinking of me. I’m quite up and down, feeling emotional about it. Nearly cried when I missed my train to work this morning.

I’m anxious for the phone call. The midwife only said it might be today. The wait is hard and I keep running through the what if’s.

Yes I do feel detached from the pregnancy and the excitement has gone. We have told close family but no one else yet as I feel like I need to know the results first.

I really hope your okay!
Il totally get how you feel, my situation isn't the same but myself and my husband carry a faulty gene and together it can cause our children seriously life limiting issues. We found out we was expecting the week before our wedding and I felt nothing towards the pregnancy and I didn't want to feel or be pregnant until we had testing done at 13 weeks.... it was the worst time ever waiting until the 13 weeks then waiting again for results. I was fully prepared to terminate the pregnancy and had no hopes what so ever. Couldn't even picture it in the future ? But When I got my call my heart sank totally and we was told everything was fine, me and my husband still didn't tell anyone until I was gone 5 months due to pure shock everything was fine and we was so prepared for the worst not the best ?
But we got super exited after it and that feeling soon went !!!

Thinking of you 🤞🏼❤️

There’s an 80% chance that the baby won’t have Downs, if it helps to think about it like that 💐

@hellotheirsugar Thank you for your message. It doesn’t look like I’m going to hear today…maybe tomorrow. I’m glad you had good news in the end! That must have been a stressful time for you especially with your wedding too.

@Wouldloveanother I’m trying to think positively, looking at it that way certainly makes it feel less likely.

Ours was the same odds as you. We had the Harmony test and lots of 3D scans to find the nasal bone and other things.

(Also High Risk for Edwards, Pataus etc too)

It was a worrying time. But all was well and clear of all trisomy disorders

Hope you're OK and good luck x

@HazyDays81 it's an emotional time and you've got loads of hormones thrown in too.

I cried lots. I cried when they phoned me to tell me my results, even though it was good news. DH was a little confused when I rang him sobbing that the result was 1 in 50,000 that he had to check that it was actually good news.

Keeping my fingers crossed that you get your results soon.

Good luck OP, a friend of mine was told her baby had high risk of downs, almost a certainty, further testing showed her baby did not have downs. Try to keep positive. It’s awful waiting for news, I hope you hear soon.

@badgerybadgerboo Did you have any invasive testing - CVS or amnio? The midwife seemed to suggest as 1 in 5 is very high that most tend to go this route rather than the NIPT/Harmony. Did you have to go privately for the 3d scans? I’m glad you had a positive outcome.

@Blixem yep pregnancy hormones definitely not helping. I’ve been arguing with my husband too, not over anything serious but I think where I’m upset, anxious and on edge I’m taking it out on him. He is very supportive though so I’m lucky.

@Roselilly36 That must have been hard for your friend if they thought it was almost definite. Hopefully I’ll know more tomorrow.

@HazyDays81 no, I refused the amnio. The Harmony was absolutely fine! Yes we paid £25ish for each scan but it was so worth it!

Nobody mentioned that my high chance meant that Harmony wasn't recommended so I wonder if that's new advice?

Research carefully and don't get pressurised into doing anything you feel uncomfortable with just to please a midwife with old fashioned opinions

Do what's best for you, trust your intuition x

Thanks @badgerybadgerboo I really appreciate you help and advice. The midwife suggested as my risk was very high that the Harmony test doesn’t always give accurate results and can give false negatives. From what I’ve read though it is a much more in depth blood test analysis than the NHS scan/blood test. If my result comes back low risk then I think that’ll be enough to reassure me. I didn’t like the sound of CVS or amnio because of the risk to the baby. That is good for the 3d scans too I thought they’d be really expensive x

@HazyDays81 it's horrible isn't it. The risk of any Trisomy issues vs the risk of an amnio.

That's exactly the mindset we went with too. We sound very similar and your worries are just like mine

The weird thing is that when my mum was pregnant with me I was also a high risk for Downs baby!

I was told at 34 weeks at a growth scan that the baby had a duodenal atresia (stomach blockage) and the risk of downs was now 1/3 as I was so far and being induced at 37 weeks anyway because the baby was small(another marker for downs) I didn't have any further testing and waited it out. It was a very dark 3 weeks but my girl was born with not long no downs but also no atresia so she needed no surgery etc as is been advised!

Good luck whatever happens 🌸

Our son was 1 in 5 risk for DS. We declined the amnio, preferring to be optimistic (4 in 5 chance he wouldn't have DS) and reading up just in case. Due to my age and declining amnio, I was referred to a high risk clinic and had a lot more monitoring. Good job too, as I had bloodflow issues and had an emergency C/S at 29+1 weeks.

He doesn't have Downs. He has multiple other issues, related to my bloodflow, a pre-birth cranial bleed, and subsequent epilepsy. But nothing that could have been detected in utero. We're glad we took the risk.

@badgerybadgerboo As much as I want to know for definite either way I don’t want to risk miscarriage from the CVS or amnio so I think that rules them out.

@BabyB19 That must have been a worrying time, lovely to hear it was a positive outcome after all the worry.

@JenniferAllisonPhillipaSue That’s good you were offered more monitoring. It must have been very scary to need an emergency section at 29 weeks. I hope your son is progressing well despite the issues you mention.

Thanks again for your messages of support it is what I have needed these last few days x

A baby with Down's syndrome isn't the end of the world and will bring you so much joy, my niece was born with it despite sil screening as risk 1 in 20000 but we love her to bits and she's brought us all so much joy

Thanks for your message @tirednewmumm it is good to have a different perspective. I think my worry is the fear of the unknown and how severe it may be and possible other associated medical issues. You’re right though a risk is always there regardless of whether it is low. I’m sure your niece is gorgeous.

I had the call this morning - my NIPT results came back as ‘higher chance’. It says 9 in 10 that receive this result will have a baby with Down’s. I feel like I’m clinging onto the small chance it won’t. I can’t stop crying and I really don’t know what to do.