Is a screening for Down's syndrome ...

[KeepOnPloddingOn]

Generally correct? I know occasionally there can be blips and false positives ... But generally is a high result a positive? I have a 1:27 chance of dc having downs. I have read conflicting info, but some say that getting such a high result generally suggests ds is inevitable - as the screenings are not 100% and a very high result should be taken as a highly likely.

I know this may sound confusing sorry, I am no expert on all this- I have been researching lots and as there are no answers as to why some Get such high results if baby doesn't have downs. So I am starting to believe it means in most cases a very high result such as mine is a 'more than likely' ...

For me it was my bloods giving me this high positive. The nt was 2.10- normal. I am mid twenties.

A result of 1:150 or less is considered high risk by the way. I think if I had a 1:100 it would be different - but our screening was relatively very high ...
Aibu to believe that thiS 1:27 Is not a diagnostic, but a pretty cert dc will have downs....? Any feedback would be appreciated.

The three cheeses out of interest has your neice had any tests for any other chromosome disorder I say this as my D's has classic autism he is also non verbal as I said upthread he has a rare chromosome disorder which his paediatrician believes has caused his ASD and learning difficulties.

I chose not to have the screening as once I looked at the accuracy it didn't seem very reliable - I knew I didn't want to have an amnio, which is the only way to get a definitive diagnosis, and I remember reading 69% accuracy for the triple test alone (nuchal scan wasn't offered in my area) - accuracy with the nuchal scan too is higher but there is still quite a significant chance of an inaccurate result as far as I can see (sorry not to be more precise, I can't remember the figures) - but I know that based on the accuracy of the test I felt it would create more worry than it alleviated.

I wouldn't have this test again. Lessons learned.

Just wish to say I have specifically asked the hcp about this twat indicating any other problems and have been totally assured it is testing for downs- and other chromosomal issues. If these come back ok or does not mean the baby then must have some other disorder- such as autism. There is no link.

mads I wish I had had the harmony on the first place!

Test not twat!

I didn't have any of the tests with any of my children (neither triple test or nuchal) because I wouldn't have had an amnio (unless I was in the late stages of pregnancy and they needed to do an amnio to decide what immediate care my baby might need to survive).

DD1, as it happens, has some sort of genetic condition, but the exact condition is unknown despite karotype, array, etc., so I don't think screening would have picked it up and a CVS would have come back clear.

X2boys* my niece is one of four children in the family who have Autism. Her brother also has Autism and is none verbal, my own two children also have Autism but are verbal.

Both my sister and are also 'on the spectrum' and whilst it's down to luck I do find it interesting that my sister is a lot less able than me socially and both ber children are much more severe too.

I think Autism goes hand in hand with a lot of conditions, many of the SN children I know also have Autistic type traits.

Funny old thing genetics.

As a lot of people have said, probability is just that, it can't give you a yes or no answer.

My risk came back as 1:90'000 but that still wasn't enough to stop me worrying. I obviously didn't have any further testing but up until the 20 week scan gave us the all clear I couldn't relax about DS or any other possible problems the baby may have had. All I could think was that although my risk was low, somebody still had to be that one person and there was no reason why it wouldn't be me.

I guess what I'm trying to say is that regardless of what the numbers are we all still worry. People with high probability results have babies without DS whilst some women with a very low probability do. It all seems a bit illogical and as another poster has said, the testing can sometimes cause so much unnecessary anxiety to those with high risk results.

Have an amnio and find out for sure.

What does this have to do with AIBU?

3cheeses-
Do you think there there Is a link between downs and autism? The medical profession don't as far as I have read and asked...

Côte - traffic and also it is Aibu to believe as I do/did... ? Why?

Out of 27 babies born with your results, 1 will have downs . So fairly unlikely.

As I said, have the amnio and know for sure. Nothing anyone here can tell you will shed more light on 1:27 results.

I certainly hope you weren't seriously asking "AIBU to believe that this 1:27 is not a diagnostic, but a pretty cert dc will have downs?".

Has someone explained to you what 1:27 = 1/27 = "1 in 27 chance" means?

Do you think there there Is a link between downs and autism? The medical profession don't as far as I have read and asked...

I teach in a special school and have known three children with a dual-diagnosis of both Down's Syndrome and autism. The various literature I've read seems to suggest that 5-10% of children with Down's Syndrome will also go on to receive a diagnosis of ASD which is more frequent than within the general population (but less than in some other conditions such as Fragile-X or tuberous sclerosis). However I don't think there has been any comprehensive research into this and all the research seems to recognise that it can be more difficult to accurately diagnose ASD in children with Down's Syndrome as developmental delays or behavioural problems would first be attributed to the Down's Syndrome.

My understanding is that the causes of autism are still poorly understood and that although some conditions are linked to autism the medical profession still don't really understand why.

Thanks Chester. I always naively believe what they tell me :/

Côte- I have read various things suggesting the screening being so high does suggest some sort of inevitably. Since having lots of helpful responses I can see the stuff I have been reading is perhaps anecdotal from parents of kids with ds.

Thanks for your comments all the same, not particularly helpful in anyway mind you. Ever heard the phrase "kicking someone when they are down?"

Op, like Chester I know some kids with dual diagnosis, ie downs syndrome and Autism or CP and Autism but know of many more whose children may have traits but no diagnosis.

Either ways, I really wouldnt worry too much, the chances are your baby will be fine is far greater, I bleddy hate these tests too, they cause so much upset.

Thanks three.

Hmm, autism is in my family (sis has it) will see...

2.1 isn't massively higher than average. My ds was 1.8 and all fine. It's in the normal range

What is the average?

OP, I wasnt suggesting that a high risk could indicate another disability, ie Autism. Just pointing out that some things can't be tested for !!

I really hate these tests, they're so innacurate and cause a lot of upset to people.

Take care and try not to flap.

No problem OP, happy to help. Having been there myself I know how tough it is.

I also appreciate how completely unnecessary it is for people to be having a go at you at the moment, particularly over where a post is posted of all things

Best of luck OP, hope everything goes ok.

Also, there are people like me 1:1400 (low risk) risk at NT but confirmed DS after scans and CVS (then lost baby at 15 weeks). Other DCs had very low risk 1 in nearly 10000 and 1:100000 and are ok, so in my case think that my risks may always be low due to bloods/age (at the time) therefore not accurate.

Best wishes.

Thanks all. Three i will. I am reading
Into things far too much right now! Sorry.

I am 26, I know no one with downs and I trusted what the docs has to say implicitly ... Now not so sure. It's scary. Anyway I have mulled over this too much today.

I should add, some days I have been totally fine and optimistic. Today is a bad day.

The infant mortality rate in quite a few countries is higher than 1 in 26.