Waiting on amnio results. Suspected down syndrome

[Scaredmum85]

Hi ladies. I'm looking for some hope or reassurance that someone might be able to give me based on their previous experiences. I went for my anomoly scan yesterday where a number of markers for DS were found. I was brought in again today to be scanned by a senior consultant who found the same markers. They did an amnio straight away and now I'm waiting on the results. I am worried sick, so stressed out and cant stop crying. I'm trying to be hopeful but struggling to be. I've to wait a week for results and I'm trying to cling onto hope for the week. I would love if people were able to share their experiences for me please. The markets they found were a small hole in the heart, a small nasal bone and small bones measurements. It's a lot of markers in my own opinion hence why I feel like all hope is lost. Please help

I’m sorry, OP. Waiting is very tough. Do you know whether you will continue the pregnancy in any case or are you postponing a decision until you have the amnio result?

I'm not sure Cnoc. It's such a tough decision. We also found out it's a girl today so that's making the decision a lot tougher because I'm now imagining my little girl and I dont know if I have the heart to terminate but I know I just cant cope with a child with special needs

OP, I feel for you. I remember getting my risk score when I was pregnant which was quite high and I researched a lot before I made the decision whether or not to go for invasive testing.

I found very good info here: www.downs-syndrome.org.uk/about/pre-natal-faqs/

And this document gives an insight into what sort of life people with Downs might have www.downs-syndrome.org.uk/download-package/celebrating-our-lives/

In the end, my fears (and relative ignorance) were addressed and I decided that if the baby was Downs then so be it. I wanted to be prepared for what to expect, and I learned that many live very full, happy and relatively healthy lives. It is a difficult decision and a personal one. You have my best wishes whatever you decide.

Hi I'm so sorry your going through this! I know several people who were told that their children have a high chance of down syndrome but didn't.

Firstly our smaller twin had enlarged ventricles in the brain , single vessel cord and was smaller than his brother by 15% the doctor sent us to a genetic counsellor but we decided not to get the amnio etc anyway a scan later ( after 4 weeks ) ventricles have returned to a normal size and hes the same size as his brother so hes no longer high risk ! Sometimes babies have issues that can resolve themselves and we wouldnt even know about them if we didnt have all these scans...our baby could still have issues we don't know but it's looking less likely now

I know two ladies who had babies both with small nasal bones small enough they were told their chances of having down syndrome increased and both have no issues after birth just healthy little boys !

I really hope you get a good result from the amnio and if not you can find peace with whatever decision you make

How tough for you, especially at a time like this. There is no right or wrong decision if the outcome isn’t good. I personally don’t think I could go ahead. I know this may sound harsh but I just wouldn’t want to have a child who would anyways need some form of care.

A family member had tests after showing markers for DS, and it turned out that baby was absolutely fine. They too had decided that if the worst case came true then they would terminate the pregnancy.

Thinking of you OP. I lost a downs pregnancy in the first trimester and also had to terminate an Edwards baby in the second trimester as the prognosis was that she would either die in utero or soon after birth.

Very difficult times only made better by the two healthy children I have now. It’s s very personal decision and there are charities specifically set up for this. I have to say I didn’t approach them myself but I know lots of people have found their advice very useful.

I think take it day by day. Wait for the results and then discuss it as much as you can with your OH. I think with Downs it’s always more difficult as very often the prognosis is much more hopeful in terms of quality of life. But downs does come with levels of severity, hopefully the professionals will be able to help with guiding you.

Lots of love to you all xx

Thanks so much for replying. I have been trying to stay stay away from reading info in relation to children with down syndrome until I get back the results. If they're positive I will most certainly do my research before making any decisions as itll be the hardest decision I'll ever face in my life. Can I ask how your results turned out?

Oh god you've had it very tough. You must be so strong. My heart is breaking and I dont even have the results yet. But Luke I have 2 healthy crazy children that are keeping me going and getting me through this. Thanks so much for sharing your experience xx

@ArthurandJessie thanks so much for sharing. That gives me some little hope. I am clinging to any hope at this stage but I'm also being realistic that the chances of having good news is very slim

I can recommend this website www.arc-uk.org/ Antenatal Results and Choices

We had a scare too, I got a high level risk of Downs in the blood test. We did the NIPT test and all was well, but I remember that time and it was very dark and lonely.

I contacted that website and they spoke to me over email and were very kind and non judgemental.

In the end, he didn't have any conditions, totally fine in every way. But if he had had it, I still don't know what I would have done.

I had an amino after my blood results showed high risk 1/97. At the time they said everything under 250 was high risk.
Our amino was negative.
Did you speak to a counsellor?

OP you get through it because you have to. There’s no choice but to keep going 🤷‍♀️ Mumsnet was a life saver as it connected me with other women who had had similar, often worse experiences. To my mind it’s not the worse thing that’s happened in my life, I know that sounds awful but I’ve gone through darker times than those. So you just muddle your way through and you come out the other side just very very grateful for what you have.

Hi OP, I had high risk for all of my kids (1 chance out of 6 with Downs) Had aminos with all of them, all were negative. To this day I have no idea why it came up in my scans.

I really feel for you it is tough.

@user149342394. Can I ask what was showing up in your scans that brought u to having the amnio? I'm so happy things worked out well for u xx

Hi, apparently something on the neck measurements or something? Completely stumped everyone. I was the first person thus generation in my family to have scans (my own mum and MIL didn't as back then they didn"t) so the only conclusion we could come to is that my babies grow in a Weird way that only modrn scans can pick up? Sorry not much help.

Thinking of you op

Thank you @skysmiler. We unfortunately got bad news this week. Our little girl has been diagnosed as having down syndrome. We have made the toughest decision in our lifes that we have ever had to make and we have arranged for termination of the pregnancy next week. I have had the worst week of my life so far and I dont know how we'll get thought this but I know my 2 beautiful kids will help me get the strength I need. Thank to you all for your thoughts xx

I'm so sorry.

So sorry to hear that OP. Take care.

So sorry, OP. Sending a hand hold xx

Everyone makes their own decision in this situation. Mine would have been different when I was faced with it, but I hope you find peace and best of luck for the future

I’m so very sorry. Sending big hugs your way

💐💐💐

So sorry OP. I wish the result had been different but you will get through this. You’ll appreciate you beautiful little family all the more and it will be a scar that will fade in time. Lots of love to you all ♥️

I'm so sorry x Sending you strength and support for these coming difficult times, I would have made the same decision ❤