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Genetic counselling question

(8 Posts)
Barmymummy Tue 15-Sep-09 21:45:48

A friend of mine is having her DS assessed for autism. Among the usual assessments being carried out is genetic counselling. She wasn't really told why at the time and has got all the blood test forms through to go and have it done.

I think thats really bad that they haven't explained properly why or offered genetic counselling!! Have you any idea what they could be looking for? She is ringing up tomorrow to ask some more questions.


donkeyderby Tue 15-Sep-09 22:22:30

Maybe I have not understood the question: You say she is having an assessment including genetic counselling but you then say she hasn't been offered genetic counselling...when it seems she has.

Is it that she feels she should have been offered genetic counselling before genetic testing? Perhaps it is standard practice to look into all possibilities as to why a child is having difficulties including genetic/chromosome issues, but, yes I agree it would be good to know what the child is being tested for and why.

Barmymummy Wed 16-Sep-09 07:03:57

Oh sorry, was tired and didn't check back my post properly blush

Yes you are right. She is being given genetic testing but no counselling.

Am just amazed paed is doing it without telling them what they are looking for.

Have you any idea what possible things they are looking for when they do this as I really have no idea?! Thanks!

TotalChaos Wed 16-Sep-09 07:42:19

They may be testing for Fragile X, as some of the symptoms for that can be similar to ASD. (problems with communication/eye contact etc). But she's best off phoning up paed/secretary to ask what they are testing for rather than us trying to guess!

Barmymummy Wed 16-Sep-09 10:47:12

Yeah I know, she's going to ring them today. She was worrying last night and I said I'd ask if anyone knew. Thanks smile

BethNoire Wed 16-Sep-09 11:01:17

Wehave been offerd it, trhey didn't at th4e time of DX as the boys have no dysmorphic features (not convinced with ds3 in actuality- its hard to see though as his long hair covers anything up).

The reason we were offered testing now is that they want to get bloods of famillies where genetics are presumed implicated, They also want us to go on a databse so we can be called in if they get more info on familial ASD.

However we have said no. Partly for eprsonal moralreasons- they can't assure us that the samples won't be used for developing tests that could elad to termination beng offered for ASD.

But at time of DX, then fragile X is often screened for.

Barmymummy Wed 16-Sep-09 11:12:27

Oh I see, thanks for that smile

FioFioFio Wed 16-Sep-09 14:45:56

it was standard where I lived to do full diagnostic testing (inc chromosome analysis etc) on any child that had a significant dveelopmental delay. After this you would be refered on for genetic counselling to see if they could find anything. I think this is a good thing. There are lots of people with children with autism (severe particually) who have had no other tests apart from ana ssessment and it often leaves doubts in their minds

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