1 in 13 chance for Downs

[junebug121]

Hi, first post on this forum and as I'm sure you can understand, one I wish I wasn't writing.
We have been given a 1 in 13 chance of Downs. This is based on:
NT of 2.9mm at 11+5 / 2.17 MoM
BHCG 1.21 MoM
PAPPA 0.81 MoM
Plus I'm 32.
I don't feel as though my bloods are too bad and so obviously it is driven by the NT which I guess is high given we had the scan quite early.
I'm waiting for the Harmony test results but I guess I'm just looking for any positive stories/opinions in the meantime.
When we had the harmony scan before they took bloods they saw a prominent nasal bone, baby is growing well, heart beat was strong and although she didn't measure the NT she said it didn't look concerning to her.
I can't help thinking my 1 in 13 is a bit harsh but i don't know if I'm clutching at straws.
This is an IVF baby and my sister has Downs (bad luck not inherited and I've had my karyotypes checked) so I feel a positive result would be damn unlucky!
Thanks in advance for any replies
x

[SilverLinings2014]

June, sorry you're going through this

1 in 13 is less than an 8% chance of having a child with Downs. That means there's a 92% chance your baby won't have Downs.

Good luck with your Harmony retails. I hope they come back quickly xx

[Whymeagain1]

Hi Junebug, sorry you're going through this, the waiting is awful. I don't know when you had your Harmony test, I had one in March and the results took a calendar week to arrive back with the clinic, in case that helps you think about timings. I know the bloods go to a lab in London now and so had expected quicker results, seeing as when I had a test last year the results were back in 6 days, even though the bloods were sent to the States. I hope you don't have too long to wait and you get the all clear.

[junebug121]

Hi both, thanks for replying. I do really try and focus on the 92% but you're right the waiting is horrendous
I have been told 3 to 5 working days and I had my blood taken on Sunday. So I'm really hoping for Friday because otherwise I'm looking at after the bank holiday which seems like a lifetime away.
Only problem is Friday is DH 30th birthday so these results could make or really break things and we have a party planned for Saturday which I'm worried is just going to be ruined as we'll be devastated

[KukSoolWonKids]

Don't be devastated.... your baby is a blessing either way!!!!
Having DS in the family you'll already have a good understanding of the syndrome so you are already way ahead!
My best wishes!

[herethereandeverywhere]

I have a friend whose combined result after bloods was 1 in 2. The sonographer 'helpfully' told her that the nuchal fold measurement was 'off the scale'...

She went on to have the CVS test (I think, like amnio but not amnio) and all came back clear. 20 week scan came back clear.

He is now a completely healthy normal (sorry I hate 'normal' but I mean no difficulties) 5 year old. She never found out why her markers were so high but no noticeable effect on the health of her child.

Like you my friend found the waiting the most difficult thing. Try to take each day at a time and be kind to yourself.

[junebug121]

Kuksoolwonkids you're right I do feel like I am in a unique position having grown up with my sister, however, more in the sense that I know the wide spectrum there is with Downs and unfortunately my sister is on the severe end.
Given this, it isn't a straightforward decision for me. I'm not sure what we would decide but I would be devastated that I have a decision to make at all.

Thanks herethereeverywhere, it is always lovely to hear a positive story

[UnbornMortificado]

I'm sorry your in this position, DS1's results were quite high (1/50 I think) I honesty don't know what I would have done if the test had been positive.

I have a huge amount of respect for parents who raise disabled children but I two DD's
at the time one with some slight additional need.

I hope your harmony test comes back ok

[junebug121]

I agree UbornMortifcado, I have a lot of respect for people, my parents included. They had no idea my sister had Down's until she was born so the decision was not in their hands. Maybe that's a blessing.
For me, having had Down's as a feature of my entire life, I'm not sure I can face increasing its role. Especially if I were to face the challenges my sister presents. The thought actually makes me full of dread.
Maybe people will judge me for that but i think unless you've been in someone's shoes you can't really know.
I'm just hanging onto the hope that I won't need to face this outcome.

[HKittyCat]

Like a previous poster said there is a 92% chance your baby does not have downs syndrome.
Additionally as i'm sure you know people with downs syndrome are all individuals and some may have less severe difficulties than others, IF your child has downs syndrome there is a chance that the difficulties faced by your child will be less severe than those of your sister, i'm not sure if they can tell that at this stage though?

The best thing you can do for you and baby is try and stay as calm as possible until the results come back, although I know it's easier said than done x

[KukSoolWonKids]

Hmmmmm June I can see where you are coming from.... but ... this one is all yours !!! Your baby....
I be got a severely disabled boy who is 7 now. Life is different but he is amazing.... it could be easier but I'm all up for a challenge and I just love him so much I could squidge him!

I feel a hint of sadness that DS9 and DD5 may think the same way as you if confronted with similar situations. I have never had disabilities in my life so this was all new to me and I was given no indication until his birth either. DD was a 'surprise' baby as we had not planned more!!!! We decided to not test with her... just because she was ours like DS and he's amazing do we were pretty sure she would be too. DD is neurotypical!
The best of luck to you ... I can see why it's so difficult for you .... please keep us updated and I'm thinking of you!

[junebug121]

You're completely right Kuk, it would be my baby and I know that I would feel completely differently. I also know he/she could be much less afflicted than my sister. So it is a massively tough decision.
Please don't worry that your children would change anything. I wouldn't change my sister for anything, I love her dearly and she's shaped my family into what it is. A great family by the way. So I'm very lucky in so many ways.
Like I say I just feel like I have that part of my life and I hoped for this bit to be different.
Thanks for your kind words. I will definitely let you know how I get on.
x

[LanaDReye]

June I have seen what having a sibling with Downs is like (with best friend of over 35 years). My friend was wracked with guilt of loving her brother and still hoping that her baby didn't have it when pregnant, then relief when he didn't. Now past 40 she won’t try for another due to increased risks. It would be easy for me to say let go of the guilt, but I expect you can't. Just thought I'd say you are reacting normally to uncertainty and best wishes

[UnbornMortificado]

June 92% odds are still really good, I'll keep my fingers crossed for a positive result for you 🍀

[user1492287253]

I would think that the nasal bone is very positive. Hoping for a positive outcome x

[VanellopeVonSchweetz99]

June, hang in there.
DS was 1 in 3. Mainly due to my v strange bloods. Went ahead with the amnio, couldn't have it the first time, had to come back some days later, and the wait was ... well, indescribable. I don't really know how I survived it. It was like excising one second at a time, just trying to breathe. This was nearly 9 years ago. He is normal (although I hate that word).
Both DH and I grew up with family members with severe mental and- or physical challenges and I'm sorry to say our stories are far from sunny and had a huge impact. We are well aware there are worse things in life than DS, but even so. You know what I mean I think.
Thinking of you and wishing you the very best.

[VanellopeVonSchweetz99]

existing

[junebug121]

Thanks for your message Lana, I do feel guilty that this is my gut reaction to the situation so it's nice to hear I'm not alone in this.
And thanks guys for reminding of the positives about the 92% and the nasal bone, it is very easy to lose sight of the positives at the moment!
x

[junebug121]

Thanks for your message Vanellope. You're story is one I hope to be telling to someone in years to come. And I do understand what you mean.
x

[primaryboodle]

Hi june,

My results for my healthy neurotypical dd (now 9mnths) were almost identical to yours except we had a 3.5mm nt measurement. We had a 1:13 chance too.

My consultant did say that immediate downs in the family is calculated in your risk factor so possibly why the result is so high.

I wish you all the luck you get the results you want and hope you take some comfort in my experience xxx

[junebug121]

Hi primaryboodle, you give me great comfort! I have spent ages googling trying to find a story that was similar to mine and have struggled. So thank you so much for sharing.
I wasn't sure if immediate family history was factored in or not but you're right, maybe it is and that's making my risk higher. That would be comforting as I know it's not hereditary in my case.
x

[VanellopeVonSchweetz99]

P.S: Just want to add that Mumsnet was an enormous comfort at the time, here is where I found people with similar experiences,, support and advice. (Have NC since.)
No hereditary factors with us as far as we know (family members were cerebal palsy + some other things). With my younger child it was 1 in 450 or something like that.

[primaryboodle]

Im glad i could help in some way june; i cant recommend arc charity enough they are so knowledgeable and supportive too xx

[junebug121]

I keep wondering about ring ARC but wasn't sure what I'd say really apart from I'm scared.
Primaryboodle can you remember when you had your scan? I know 2.9 is high-ish and I guess they're factoring in that it will get larger because like I say it was an early scan.

[primaryboodle]

Mine was approx 11.5 weeks. But a nasal bone is a great sign!

Ring them amd tell them your results and they will give an honest opinion of how much hope you should have in a knowledgeable and caring way - they have so much more information than what you are hurriedly told by nurses at the time. Fx the results come soon for you xx

[user1492287253]

With dc3 i had a high risk based on age. I had a private scan which showed nasal bone and i decided not to go for amnio. This was 9 years ago but at the time i was told that the nasal bone was a strong indicator.