1/24 risk of down syndrome, worried sick

[rebecca24y]

Hi i'm wondering if anyone can give me some positive stories

after my 12 week scan last week i got a call to say i had 1/24 chance of my baby having down syndrome and i've been an emotional wreck ever since! i feel like i'm falling into some sort of depression, i feel like i'm no longer excited about my pregnancy i'm just so scared and worried.

i had the NIPT test on Tuesday and now waiting for my results which is killing me.

my results are

NT: 3.2 (which i don't think is alarming but on the higher end?)
HCG: 1.81 MoM
PAPP-A: 0.83 MoM

has anyone had similar results?

[CaribbeanCupcake]

Totally understand your worry. Mine came back as 1/5 and it was the worst wait of my life. Long story short I had an amniocentesis and it came back baby was ok. She's now 3 weeks old and perfect, happily snoozing away as we speak 😀

When you convert 1/24 to percentages, the odds sound way better are in your favour that baby will be ok. Yes someone has to be that 1 in 24 but that doesn't mean it will be you. That test is a screening so takes into account a number of things and chucks out the result, no actual test has been done to check it.

Hopefully the result of the NIPT won't take too long and will put your mind at ease. Try to keep yourself busy while waiting and do anything possible to keep your mind off things xx

[rebecca24y]

@CaribbeanCupcake

Totally understand your worry. Mine came back as 1/5 and it was the worst wait of my life. Long story short I had an amniocentesis and it came back baby was ok. She's now 3 weeks old and perfect, happily snoozing away as we speak 😀

When you convert 1/24 to percentages, the odds sound way better are in your favour that baby will be ok. Yes someone has to be that 1 in 24 but that doesn't mean it will be you. That test is a screening so takes into account a number of things and chucks out the result, no actual test has been done to check it.

Hopefully the result of the NIPT won't take too long and will put your mind at ease. Try to keep yourself busy while waiting and do anything possible to keep your mind off things xx

Thank you for responding.

it's such a horrible situation to be in! i think i'm just scared of the results coming back as high risk again and then further testing which means more waiting! i'm trying to stay positive but i can't help thinking of the negative!

they said 5 days so i'm hoping by monday i'll hear some news x

[Emsmith87]

My blood work has just come back saying our baby has a 1 in 18 chance of down syndrome. Been hysterical all afternoon. Does anyone know anything about what the figures should be. Babys neck fluid qas ok. 

My age: 36
NT (mm) 3.0
NT mom : 1.58
FBHCG: 46.6
FBHCGmom: 2.0
PAPPA: 2198
PAPPAMoM: 0.62
Down's Risk Factor: 1 in 18
DRF based on age alone: 1 in 240
T18/T13 combined risk: 1 in 2400



#Pregnancy14Weeks 

[rebecca24y]

@Emsmith87

My blood work has just come back saying our baby has a 1 in 18 chance of down syndrome. Been hysterical all afternoon. Does anyone know anything about what the figures should be. Babys neck fluid qas ok. 

My age: 36
NT (mm) 3.0
NT mom : 1.58
FBHCG: 46.6
FBHCGmom: 2.0
PAPPA: 2198
PAPPAMoM: 0.62
Down's Risk Factor: 1 in 18
DRF based on age alone: 1 in 240
T18/T13 combined risk: 1 in 2400



#Pregnancy14Weeks 

Hey!

I’m so sorry you’re also going through this! I’ve know since Monday and I’ve been a state ever since.

the midwife was pretty useless and didn’t give me much info but the info I have found out for myself is:

NT is more of a worry when it’s 3.5 and above I think being a 3 is just on the higher end of the nuchal measurement, mine is 3.2 and it’s not as high as some other posts I’ve seen!

i think ideally HCG should be under 1
and PAPP-A should be atleast 1 (the midwife told me that atleast)

your results sound very similar to mine! I guess your number is a little lower because you’re older than me!

let’s keep our fingers crossed x

[Emsmith87]

Praying for us both. Is my HCG 2.0?
I only had an ectopic in May :(

[rebecca24y]

@Emsmith87

Praying for us both. Is my HCG 2.0?
I only had an ectopic in May :(

I’ll be praying for us too! I’m sorry :(

yes looks like your HCG is 2.0 which is just slightly higher than mine, but I’ve read of women with HCG as a high as 10! I feel like our numbers are all slightly over!

don’t forget things like age and weight are taken into account! Have you had a NIPT test yet?

[Emsmith87]

Is the NIPT the more precious blood test? They've done it today and sent it off to London. I had an ectopic pregnancy in May so praying all that could have affected HCG and everything will be ok. I feel so poorly x

[rebecca24y]

@Emsmith87

Is the NIPT the more precious blood test? They've done it today and sent it off to London. I had an ectopic pregnancy in May so praying all that could have affected HCG and everything will be ok. I feel so poorly x

Yes that’s the one, I had mine done on Tuesday but the wait is already so difficult 😞 i just keep trying to remind myself that the odds are in my favour so I’m just keeping everything crossed at the moment, if you ever need to talk just message me I find it helps that someone is going through the same thing x

[CaribbeanCupcake]

I really feel for both of you. I couldn't have the NIPT as my pregnancy started at twin, but sadly lost one before the 12 weeks. But glad I had the amniocentesis as it's 100% yes or no so really reassures you when you get the results.

Both of your odds are better than mine, and my baby does not have DS so please try to calm down. I know nothing I can say will make you feel better, as I was exactly the same when in your shoes. But yes age does have a big impact on the result- I was 38 with low Papp A- all the others were where they should be and it brought it down to 1:5.

I'll be praying for both of you but I'm also feeling positive for you too xx

[Emsmith87]

Rebecca do you have facebook so we can message on there? Xx

[Emsmith87]

Thank you ❤️

[Kate543]

Hello there, I don’t really have anything helpful to say about having a high chance on the combined screening or nipt. However I got given a low risk at the combined screening (1 in 8600) and my daughter was born with Down syndrome. She is beautiful and I’m in some ways glad I didn’t know earlier because I think I would have been so worried. If you would like to chat (no judgement about what decisions you want to make) I have got experience of what to expect if you have a child with a little extra

[Itonlytakesaminute]

Mine was the same, 1 in 24 and my baby does not have DS , but the wait for the NIPT result was awful.
The NHS screening takes into consideration your age, bmi, whether you smoke and combines it with your Papp an and HCG to get the result.
An indicator of DS his low papp a (low is below 0.41 I believe) and higher HCG (above 1) and the difference between these numbers.

The nuchal measurement is an indicator of DS, believe higher than 3.5 would flag a worry but isn't a definitive marker of DS.

Was the nasal bone seen in the scan?

The wait is the worst but try and stay positive

[Itonlytakesaminute]

Oh also i feel into a horrible place for the 8 days I waited from the phone call to nipt results , I switched off from my pregnancy and it took me a while to 're bond' with my baby but i did and my little one is the best

[rebecca24y]

@Itonlytakesaminute

Mine was the same, 1 in 24 and my baby does not have DS , but the wait for the NIPT result was awful.
The NHS screening takes into consideration your age, bmi, whether you smoke and combines it with your Papp an and HCG to get the result.
An indicator of DS his low papp a (low is below 0.41 I believe) and higher HCG (above 1) and the difference between these numbers.

The nuchal measurement is an indicator of DS, believe higher than 3.5 would flag a worry but isn't a definitive marker of DS.

Was the nasal bone seen in the scan?

The wait is the worst but try and stay positive

Thank you for taking time to reply! I’m really nervous and keeping my fingers crossed!

it wasn’t mentioned about the nasal bone?! And now I’m worried about that, she just said everything looked good

[lemonsaretheonlyfruit]

Mine was I in 2. It was a difficult wait for sure. My (now) ex had just walked out and I ws already in pieces even before this news. But it was all fine.

[rebecca24y]

@CaribbeanCupcake

I really feel for both of you. I couldn't have the NIPT as my pregnancy started at twin, but sadly lost one before the 12 weeks. But glad I had the amniocentesis as it's 100% yes or no so really reassures you when you get the results.

Both of your odds are better than mine, and my baby does not have DS so please try to calm down. I know nothing I can say will make you feel better, as I was exactly the same when in your shoes. But yes age does have a big impact on the result- I was 38 with low Papp A- all the others were where they should be and it brought it down to 1:5.

I'll be praying for both of you but I'm also feeling positive for you too xx

Thank you so much for the support, it means a lot.

i think it's just fear of the unknown at the moment which i'm finding so difficult, i just want these results! i'm 28 so my chances should be a lot lower!

i really hope i can update you with positive news xx

[Itonlytakesaminute]

@rebecca24y don't worry about the nasal bone, if she didn't say anything then means all looks good with the baby and there was no worries she picked up at the time.
It was weirdly a question I went back to the screening midwife with as the sonographer hadn't mentioned seeing his nasal bone and the scan wasn't clear to me, the midwife said if the sonographer saw any worries in the scan they would have said there and then,

[piscesangel]

That wait was one of the hardest things I've ever been through (and I haven't led some sort of charmed life!). Sending lots of love xx Reading this while waiting for my DD6 to finish gymnastics- she's the picture of health

[rebecca24y]

@Itonlytakesaminute

@rebecca24y don't worry about the nasal bone, if she didn't say anything then means all looks good with the baby and there was no worries she picked up at the time.
It was weirdly a question I went back to the screening midwife with as the sonographer hadn't mentioned seeing his nasal bone and the scan wasn't clear to me, the midwife said if the sonographer saw any worries in the scan they would have said there and then,

okay I’ll take that as a good sign then fingers crossed! I think I’m just dreading the NIPT results coming back as high as I’ve been told if it does the baby will more than likely have DS 😢

[arlequin]

I don't have a baby with DS but just to say they are also beautiful and perfect just as other babies are ❤️❤️❤️

[Disturbia81]

@arlequin

I don't have a baby with DS but just to say they are also beautiful and perfect just as other babies are ❤️❤️❤️

Not helpful at all.

[arlequin]

@Disturbia81 it was just all the comments about babies being absolutely perfect etc. made me a bit sad as DS babies are also perfect.

However, I completely understand the worry OP. I am not at all trying to minimise your concerns.

[Kate543]

It’s ok to be worried about having a baby with Down syndrome, I am currently pregnant with baby number 2 and this time getting further testing because I would like to know in advance this time.

[Disturbia81]

@arlequin

@Disturbia81 it was just all the comments about babies being absolutely perfect etc. made me a bit sad as DS babies are also perfect.

However, I completely understand the worry OP. I am not at all trying to minimise your concerns.

I work with people with DS, they are beautiful humans and I love them.
I also know all the parents. They have had hard lives, lots look much older than they are and many wish they could have been tested.
There is nothing wrong with saying that. Saying all babies are perfect is actually detrimental to making a well thought out decision that will affect the rest of your life.