Harmony test gave 1:2,767 result at 15 weeks BUT

[AnxiousKeziah]

Had Amnio at 30 weeks due to concerns about placenta and got diagnosis of T21.

Oh lordy!
I have some idea of how you must be feeling. My DD has Downs. I felt like the world had ended when we got rhe cvs results, and that things would never be the same again.
Just give yourself time. And take heart. There are many WORSE diagnoses out there. xx

No I know there are.
This little one currently has IUGR so looking at very small, premature birth on top.
It was the fact that this new Harmony test ( done at London FMC) was I thought accurate. Well it is as we are the one. But we turned down Amnio and choice ( not saying we would terminate as that is why we did not opt and went private for Harmony instead) and we now have no choice.

So in shock with this as been told issue is with my placenta. Well it is, as well.

I'm so sorry you are in this situation. I don't know what else to say really.
I could tell you that you'll love your child unconditionally from the first second you hold them, or that you'll find a bottomless supply of strength to get you through the birth and whatever trials follow, and I could tell you that a year has taken me from the pit of despair to a place of utter joy, but I know that it's a personal journey and we each have to reach these conclusions for ourselves.
I guess that right now you're probably pretty stuck on the unfairness of it all. And you're quite justified. its very wrong that this test is marketed as the big alternative. I hope that you're okay and can find some peace with it all.
I'm happy for you to pm me if you have any questions or just want to chat. X

Hi keziah. I've been posting on your other thread. I hope you are holding up ok. The amino result must have been such a shock. I'm confused by your harmony result. We had the harmony test last year, also at the FMC. We were told the results would be either 1 in 10000 or high risk, in which case further testing would be recommended.

Just wanted to say I'm so sorry you've had this most awful shock which is quite late in the day!! There's a lot of readjusting of your thinking to be doing, it must be very hard. Can you give yourself at least of week of not doing too much and just letting all your thoughts whizz around in your head before you think about discussing with anyone apart from closest friend?
My situation was different as harmony test wasn't available yet. I got 1:6 chance from my bloods but due to very personal reasons, chose to do no further testing.
It must be awful feeling that you're almost there and then this pops up.
I also have a son with DS, he is 5 and at school this year. There have been times when I have a very powerful grief that some things in his life won't be easy for him, but mostly he just brings us immense joy, he really does xx
I'm sending you lots of love and luck because your situation seems so difficult xx

If you have any questions please ask or PM me x
I have found great support from other parents in similar situations, sometimes your friends or family don't quite "get it" in the same way

That must have been such a shock.

Do you have a new plan in place for an early delivery or scans to look at further issues associated with DS?

There are worse diagnoses to get, however, that doesn't mean you won't feel shock and sadness for your baby being diagnosed with T21. There are plenty of people who will tell you about their little ones with DS who have fulfilling lives which is wonderful but you will still be grieving for a life you had expected and planned for your baby.

Do you have a chance to speak to professionals about what happens next?

I'm sorry you've had a shock and added worry at this stage of your pregnancy

I know it's not much comfort but my DD (3) is pals with a boy who has DS at our playgroup and his his mum is delighted with the great progress he makes every day. The little boy is as engaging and playful and cheeky as you'd expect at that age!

We are on the fetal medicine pathway at the moment with DC2 and I understand your feelings of confusion and worry. There are many posters here and on SN who have children with DS and I think you'll find their experiences helpful.

Thanks for encouraging posts.
Main concern at present is the placental insufficiency so that is focus of Fetal medicine. Been under close monitoring for that.

Eurochick, yes we got an unexpected result. 1:10,00 for T13 and 18. It is classed as an "intermediate" result and it is an unusual result. That was the point of my posting - as I had never heard of an intermediate result. We were told they did rarely get tham and the ones they had are different numbers. And we believed the number as being good - over 2,000. But it appears not.

No other scans for potential issues planned that we know of. As birth likely to have to be soon, told will be after birth.

If you are 30 weeks already then that's a plus.

Before we got the positive screen for Edwards they were talking about getting me to 28/30 weeks and delivering.

I think 32 weeks seems to be a 'magic' number in that babies born at that gestation or later have a much better time of it.

I don't know if this is the same in babies who have ds.

I guess th focus now is trying to work out what care you dc will need once he/she is born. At least you can start talking to professionals about those steps (not always fun but I always feel better when I'm doing something 'pro active')

It's a massive shock and you need time to process and grieve for the life you though your baby would have.

I've never heard of the intermediate result. I'm so sorry that you have the extra worry of DS on top of the IUGR. When is your next scan?

Not had I which is why I wanted to post.
What I wish they had said is it is unusual so have an Amnio if you need to know ( to prepare, choice etc).

Had 3 scans last week. Down for then every 2/3 days last week. Had one week before that, then 2 weeks before that roughly. Not know plan this week. Waiting for phonecalls to be sorted.

Nor instead of not

Wow! No wonder you are stunned. That's the first time I've come across something like this (the intermediate result is crazy rare too) and I've been closely following Harmony-related stuff for years. Have you spoken to the FMC? Did they give you any odds at your NT screening, assuming you had one? A friend had a 1 in 2 NT but a clear Harmony (no T21 as it turned out when she was born) and the professor was anxious to rescan her, seems like they take a wrong result very seriously.

Hoping all goes well especially with the IUGR - this sounds like such a stressful time

1:40 odds from NT and good scans.

Know it is rare so if it helps anyone else wanted to post. To give other choices/time to prepare.

I found today. Its exactly right. Nail on the head stuff.

That is lovely.
Saggy andlucy - do you have other children as well? This is my 2nd child, did not have risk factors last time.

How are you holding up, keziah?

we have much older beasts. Lucy is definitely the last. I'm getting too old for this lark!

Eurochick - having to deliver early due to IUGR so waiting for induction slot this week now. So anxious.

SaggyLucy - I am blessed with a 3yr old but agree this is our last as am 40. Years of infertility took their toll sadly. Wow hope your 3 are very happy together!

there were 28 week er twins in the nicu when we were in. They had been there for 8 weeks. They were tiny but VERY feisty! If there was anyone being a pest, pulling out their feeding tubes or yanking off a monitor it was them!
you've got a weeks on them and a singleton. I'm sure you'll be just fine!
you're going to meet your LO in a week! life is about to get interesting in the best way possible!

How are you getting on AnxiousKeziah? have you met your little one yet? :-)

Sadly we lost our precious son 7 days ago.
Knew the risk due to age but as it has taken 10yrs from ttc to have 2 pregnancies, including this one, could not avoid age. Initial results say it is not genetic but due to other risk factors ( age - both failing placenta and T21 and probably the other issues with his brain that were seen on scan at 20weeks).
My heart and arms are broken and empty.

Oh keziah I'm so sorry to hear that. What an awful situation.

Have you named him yet?

Sands and arc are both fantastic support networks. I thought arc was specifically for while you were having tests and making decisions but they support you after a pregnancy or decision too.

Both have been a lifeline to me.

I lost my dd2 to edwards at 22 weeks, we had a tfmr so a little different but still a loss none the less. If you want a chat or I can help in anyway please feel free to pm me.