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?

Sorry to hear you are going through this - I had similar years ago so I really sympathise. I recommend speaking to the ARC helpline. They are so knowledgeable about what the results can mean and the choices available. And the person I spoke to was also just lovely (I was sobbing throughout the call), and a huge support.
https://www.arc-uk.org/

@Disturbia81 I also have a very close friend with DS and am not at all disputing any of what you say.
All I meant was that it's important to be careful about the language we use. Some parents were saying they were worried about DS but their child was born "perfect" which I'm not sure is how we should be talking about things.

Sally Phillips who has a DS son is very interesting to hear about this.
Anyway I definitely don't want to derail this thread and really hope all goes well for you OP. Sending my best wishes.

@arlequin you've been told it's not helpful. Drop it.

I get you're coming from a good place ♥️

@Ambivax I did ring them on Friday and it did help talking to someone and having things explained to me! Unfortunately my anxiety is just so bad now, I think it’s because it’s Monday tomorrow and I know the results will be here soon

@rebecca24y really hope they don't keep you waiting too long. Have been thinking of you. Update us tomorrow if you can/ are happy to x

@CaribbeanCupcake thank you! I had the NIPT test Tuesday and it’s Monday tomorrow but where it’s been the weekend I don’t have high hopes that the results will be back tomorrow! I just want this to be over now x

Hope they are back tomorrow for you, i would guess they would b3 as the lad would have had them 3 working days now. Mine were done on a Monday and back after 3pm on Thursday

I wouldn't.

My friend has the worst kind of child with DS. I know that sounds horrible. I didn't know there were different "grades" of it.

He's an adult (40's), can't speak or go to the toilet. He's still in nappies.

She's early 70's, had a heart attack (from stress, obviously, her husband died of cancer too) so now he has to go into a care home, he's screaming blue murder.

He's a huge guy too, almost crushed me to death giving me a hug when visiting.
Just his way of welcoming me.

I love her and him to bits. Wouldn't wish that on anyone.

I'm sorry if I've upset you OP. Just relating the reality of what could be.

@MariaLuna im not sure why you decided to post that? When I stated that I was looking for positive stories.

OP, @MariaLuna is being an arsehole on several peoples threads tonight, it seems they just want to post to hit people when they are down, not just you.

I am sorry you are going through this and everything crossed you get an answer tomorrow.

@Whoopaday thank you! Yeah I was getting that vibe, sounds like she needs to get a life lol

Glad they helped a bit but of course it is the results that are the main thing - very best of luck with everything going forward. I vividly remember how upsetting it all was, and having to keep it together for my older toddler. I’m thinking of you

Just to say OP, don't panic if you don't get the results back as soon as you originally think. They initially told me up to 10 days but it was actually double that (there was a machine broken in one lab so my sample had to be sent on to another) The wait was hideous and the anxiety was all consuming. Mine did come back low risk and I'm now 28 weeks. It does still play on my mind but those weeks of total worry are thankfully in the past. Will be hoping for a low risk result for you when they come back.

@Ambivax

it's the wait that's just horrible, currently sat at my desk trying not to cry lol, yeah i completely understand that, i've got a 2.5 year old and it's been a struggle, thank you x

@BeastAngelMadwoman

thank you, the wait is just horrible! i'm hoping they will be back soon but not holding out much hope! just keeping my fingers crossed at the moment.

Remember 23/24 chance all fine OP.

To those saying Down's Syndrome babies are perfect - many are not. There is a spectrum to it. Some may live relatively normal lives and have a mild case. Others can be incredibly severe. Downs syndrome can cause congenital heart defects which means those babies need multiple painful big surgeries while young, can cause severe hearing and sight deficits, diabetes and is associated with certain cancers in addition to the cognitive impairments. Can you imagine being 60 and trying to inject your strong 20yo that's terrified of needles and is trying to fight you with insulin? Watching your precious baby in pain undergoing major heart surgery? That is the reality for several parents with Down's Syndrome children and they should have the right to decide if that is how they want to spend their life without judgement.

Hi op I haven't been through this personally with my little. But I will tell you a positive story regarding my mum and me. When my mum was pregnant with me she was told by the midwife and doctor that I had down syndrome (this was 30+ years ago so tests weren't as good) but they told her it was a for definite thing, going off my measurements. They advised my mum at the time that I will be very disabled and that she should terminate me. My mum didn't listen she turned around and said she'd look after me no matter what. Well I was born with no down syndrome (I am slightly autistic but doesn't affect my life to much) to the amazement of the midwife and drs.

Handhold for you and I hope the results come back soon x

Was it just downs they were concerned about ? If the bloods are off it could be a myriad of genetic conditions . The only way to know for sure ( nearly ) is to have an amnio .

In my experience if bloods and NT are off then it's for a reason . This can be a small one or not .

Best of luck but if you wouldn't keep the baby with any genetic condition or issue then have the amnio

I have a son with SN and we had the CVs , told all is well . Baby is perfect . He very much isnt . .

He is a lovely boy but life is tough and I wouldn't do it again if given the choice .

It's not so much the child but the fighting for every single thing they need . You need to be resilient , tough and smart to be able to achieve this and frankly it's tiresome .

Best of luck

@boredybored

my results for Edwards and Pataus syndrome came back as 1/5000 so very low

plenty of women have crazy results and their baby's are okay.

i have a 2.5 year old with autism so i completely understand that you never know until your baby is born, but i wouldn't change her for the world.

@Thelionroars Thank you so much for your haring yours & your mums positive story, it means a lot during this scary time x

@HowcanIhelp123 thank you, I'm hoping everything will be okay I'm just keeping my fingers crossed! i completely agree x

Fingers crossed for you today.

1/24 is around a 95% chance of things being fine.

I know how scary and unsettling this time can be, you have my upmost sympathy. Mine came back 1 in 15 chance and it was one of the most stressful weeks of my life. I had even naively proclaimed having worked with DS adults, that I wouldn't mind if I had a DS child, I felt very differently when it was a possibility and I was very upset with myself. She's now 6 and totally fine, it came back a one in a million chance in the end.

@VerityUnreasonble thank you for your support x