1 in 2 chances for Down syndrome

[Whatiswrongwithmeffs86]

Currently awaiting Amino, been given 1 in 2 chance for DS. NT measurement of 4.3mm and high blood results. I feel like im waiting for the inevitable to be confirmed. Could you tell me your experience, good or bad, if you don't mind sharing? I have a long wait until 2nd January to get the amino and need to stop being so anxious.

So sorry you're having a stressful time lovely, it's a lonely and scary place to be - speaking from experience. Easy to say but try not to get too panicked, maybe do some research - I found www.facebook.com/share/g/15c54aKdPG/?mibextid=wwXIfr which was such a helpful and safe place - it's a private group for mums with a high chance or confirmed result. If you decide to go down the invasive testing route there is a small risk of miscarriage, your screening team should make sure you have all of the appropriate information. Wishing you lots of luck and sending hugs xx

@Lulumamabear - Thank you so much for the info, I'll take a look. I'm counting down the days until the amino. I just need to know one way or the other so I can understand the impact for the future

Hi OP, I’m so sorry you’re in this situation. I really hope you get the result you’re hoping for.

I have a cousin with D Syndrome and of course he’s loved but his high care needs also blighted the young life of his older brother. His needs are significant, including cardiac abnormalities. He’s now living in a residential home because of increasingly violent behaviour towards his parents.

As others have said D Syndrome is a spectrum but unfortunately there’s no way of knowing where your child will be on that spectrum.

I know that I would never proceed with a D Syndrome pregnancy.

All the best OP xx

I'm just updating for anyone reading in the future.

I had my amniocentesis today. It was uncomfortable but fine, which results in 3 days.
Scan looks completely normal, heart beat, heart, stomach, brain look normal, femur length normal, nasal bone present. There are no obvious abnormalities.

My odds are 1 in 2 of DS and 1 in 5000 for Edwards and Pataus.

I will update either way with results in a few days.

*with results

At least there isn't much longer to wait, I think waiting is harder really.

Sorry don't have any experience but wanted to reply, as you must have had a difficult Christmas waiting for today. Whatever happens try to be kind to yourself.

Only just come across this thread OP but just wanted to say I'm so sorry for the position you're in and sending you all my best wishes for when you receive your results. Really really hope you get a positive outcome x

With everything measuring correctly this puts the odds firmly in your favour.

We had a rough risk of 1 in 5 based only on my age and presence of a marker (echogenic bowel).

DS did not have Downs but so convinced I was that he would, I pretty much came to terms with it. We decided not to have amnio as we would not terminate so it was a difficult 20 weeks waiting.

The best thing someone said to me was MIL saying I should terminate as there was still time to try again. I really appreciated her directness when I think everyone else thought this to be taboo. This was probably what I wanted to do (if downs had been present) but couldn't, so it helped me no end that someone just said it even though it might seem insensitive to others.

I have everything crossed for you and would put money on you getting the all clear. It is a horrific wait (I actually remember having the runs for about three weeks through sheer fear). But I think once through it all, it makes you a little stronger, a bit more resilient, a bit more grateful, a bit more understanding of difficulties people face.

Hi @Whatiswrongwithmeffs86
When I was playing the waiting game after my amnio, I met a homeless man in the park with DS. He just wanted some cake. (I bought him a muffin.) His mum and dad had died and he didn’t have the capacity to get himself any help. (I rang adult social services equivalent here in Aus.) Turns out I had only been thinking about DS kids and not DS adults. You need to look at raising a person with DS for their entire life cycle, which is a heartbreaking sentence to write. People with DS tend to live until they’re around 60, but will have lost most of the last decade to dementia, and probably diabetes and obesity. Are you going to be able to manage that in 60 years? Do you expect your other kids to?
(The guy in the park had siblings who resented the assumption/presumption of their mother who expected them to step up and become his carer, but had never had that conversation with them.)

Anecdotal stories are unhelpful, you cannot predict diabetes, mental health conditions or anything else for any person, so I feel that scaremongering comments like this are unkind and unhelpful. Any person can develop such conditions as they age and need additional care, should we all not have children just in case?

Thank you for saying this. I know two elder family members who have ‘normal’ children who have totally dominated their lives through depression and drug addiction. None of us can see the future.

As a mother of a disabled child with a rare syndrome I absolutely respect parents right to terminate (we did IVF for a second child where we screened embryos for the syndrome I carry, which in my mind is the same thing as a termination, so there is no judgement), but I do resent some of the extremely ableist language on here. There are worse things in life than having a disabled child, and disability can happen to anyone at anytime. It’s something we should all give thought to before becoming parents.

All very best Op, whatever the outcome.

I went through this with our first. It was important for me to know, so that we could prepare. For our next child we had the nuchal scan at 11 weeks. Much less invasive than the amnio and immediate results. I appreciate this is of no use to you now, but possibly for the future or to others.

I'll be thinking of you. Rest up and take care of yourself. Whatever happens, whatever you decide, I wish you all best.

If the result is not what you want, then please take whatever decision is right for you and your family and don't be guilt tripped by other people who might make a different decision.

Thinking of you.

I agree that it is important to be careful about anecdotes and also with scaremongering.

That said, people with Down Syndrome do have higher risks for some conditions such as alzheimers and diabetes.

OP, sending love and strength. Please make the right decision for you.

(edited because the links didn't work. will try to copy them below).

https://www.alzheimers.org.uk/about-dementia/types-dementia/learning-disabilities-dementia/downs-syndrome#:~:text=Almost%20all%20people%20with%20Down's,go%20on%20to%20develop%20dementia.

https://www.dsmig.org.uk/information-resources/by-topic/diabetes/#:~:text=Diabetes%20is%20at%20least%204,a%20particularly%20aggressive%20autoimmune%20phenotype.

@Littlebutloud I couldn't agree more, I am 100% pro choice and believe each mothers' choice is her own, but having worked with children and young people with different abilities and diagnoses I also find the negative narrative frustrating and sad.

It really worries me that people are so quick to assume the worst in theses scenarios - in the majority of cases people with different abilities live happy and full lives, and are not a "burden" on their families.

All I would say to people finding themselves in this position is don't make your decision based on scary "I knew this person" or "I heard about..." stories. If you really want a balanced view then find those communities and real life experiences. X

@JustHoldOnOneMinute absolutely agree, there are increased chances of some conditions. I just feel the fearmongering is often disproportionate. It doesn't take much effort to look up the chances of things like obesity, mental illness, depression etc in typical children and adults - the stats are widely available, but we don't generally do that.

Good luck, OP. I have a DD with DS. To not terminate was the best thing I've ever done. And in a world full of assholes, she is perfection. Whatever you do though will be what is right for you. My scans showed a small femur and my blood tests came back at I think, 1 in 12.

Hi OP, i hope you’re feeling ok after the amnio today.
My sister had a high chance of DS with her baby and a high chance of Edwards. She went through weeks of turmoil as well and it came back all clear in the end.
Sending you loads of love no matter what the outcome xx

Good luck OP. I have a lovely daughter with a condition very similar to DS. I do not understand why people think it appropriate to respond with scaremongering stories. I am not sure where the poster got all that information about the homeless man - certainly not from SS (or equivalent) and unlikely to come from him. Whatever the origins of the story it was not a helpful post.

I hope your results come through swiftly OP x

Good luck

Good luck. It's reassuring that your scan went well and baby didn't have any obvious health issues.

2 1/2 yrs ago we were given a 1 in 2 chance of DS after NT testing. At our amniocentesis scan it was apparent our baby had a severe heart defect (only one side of her heart was pumping), was in heart failure, had fluid on her lungs, had no nasal bone and a "malformed" face, and had developed hydrops. It therefore wasn't a huge surprise after the scan to get results confirming that she did have DS. In part because she was so very very poorly, we ended our pregnancy at 16 weeks.

I hope you are OK whatever the outcome of your scan and whatever happens next. Aside from the actual scan (because it went badly), waiting for the scan and the results was by far the worst part. Once we knew what was going on, we could at least plan, decide, and move forward. x

Good luck. I hope you get good news.

Wishing you the best outcome for this OP. I can understand your worries for your other children as well. That makes it a lot harder than if this was a first child. I have known a few people with DS who have been affected to different levels. All were very happy, loving people but one only survived to age 7 while the others lived into their 60s and ended up with siblings or a niece as guardians after the loss of their parents.

I know a distant family relative on my mother's side who is now in her 30s and was born with DS and a pretty big hole in her heart. She's doing well and still living at home. I hope that gives you some comfort xx