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Post by nikki on Aug 31, 2006 19:05:58 GMT
When georgia was born they told us that her downs had come from either me or her dad. i was lookin through all the booklets they gave me n realised i had some of the caracturistics (i cant spell!) of downs (single crease and bent little fingers etc) n went 2 my gp who said ive gotta go 4 testing 4 mosaic downs. Has anyone else had 2 go through all this and if they have can u tell me what the test is please. my appointment is on the 3rd of october im really scared cuz ill find out the proper statistics of me havin another downs child not that it'd matter tho so i dont no y im that scared really!! look im jabberin on now so im gonna go. so if anyone could help that would b great. ta.
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Post by lizzymd² on Sept 1, 2006 9:10:39 GMT
Hiya, Have read up alot on downs syndrome and i think it is the rarest form it seems to be when the cells split one set has 46 the other has 47. So they must have told you Georgia is Translocation Downs, this type comes from either parent. If they haven't definately push them for it. T21 is accident at conception (not inheritated) Translocation (inheritated from either parent). So depending on there diagnosis of Georgia will depend on your chances again of having another downs syndrome baby. Check out this website for more info www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/mosdown.html
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Post by nikki on Sept 1, 2006 15:51:09 GMT
they have said it had come from me or her dad thats y there testin me! i did read up on how they test it but im no good at understandin medical stuff!!!!
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Post by Rilith on Sept 10, 2006 8:24:31 GMT
We had genetic testing too. When they found out Holly had downs with the amnio they also found a translocation on the Chromosomes 13 & 14, so we were actually higher risk of having a T13 baby than a Downs baby, the tests came back negative from both of us about the downs, that was just a total fluke. All they do is take blood from both of you, send it off to the lab and look at the DNA and the chromosome formation. Each chromosome is made up of two parts. If there is a genetic flaw in any of the parrents it will more than likely mean that there is a longer arm on one of the chromosomes, and that can potentially break away and be added to one of the others. For example DH has a long arm on C13, this can sometimes break and at the moment of conception and when the cell starts to divide it will create 3 C13's rather than the one from mum and one from dad, it will get one from Mum and 2 from dad hence the Trisomy, which means three. If one of you are a carrier of T21 (Downs) then one of you will have a long arm on the C21 ... God I waffle... I hope I have made some sort of sense?
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Post by nikki on Sept 10, 2006 19:25:08 GMT
yeah u did sort off im no good at medical talk lol when were seein the heart consultant i have 2 get him or the liason nurse 2 explain everythin in normal words cuz otherwise its just gobbledygook lol
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Post by Rilith on Sept 10, 2006 21:27:45 GMT
I just google the odd words I pick up when I get home...LOL
Luckily before we saw the geneticist I had already read about T13 and translocations so it was pretty simple once he started going...LOL
Just call me the google queen... Tee hee
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Post by nikki on Oct 4, 2006 19:17:43 GMT
well everyone i went 2 the hospital 2 sort out all the tests 4 the mosaic downs but it turns out the paediatrician (excuse my spellin!!!) gave us the wrong info when georgia was born!!! her downs hasnt come from me or her dad so everythins gonna b fine! my chances of havin another downs baby is 1 in a 100 so we can start thinkin bout it now! plus when im preg again they'll refer us 2 liverpool (the isle of man is rubbish 4 tests n scans etc) so i can have a 3d scan a special heart scan and blood tests cuz i wont have the ammnio 2 scared!!!
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Post by Rilith on Oct 4, 2006 21:05:33 GMT
Awwwww Glad everything worked out OK in the end Stupid bloody docs GRRRRRRRRR. Amnio isn't that bad, just uncomfortable. But having said that, I wouldn't really like another one... LOL More babies yes, amnios ... mmm no...
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Post by Jojo on Oct 5, 2006 11:06:01 GMT
Oh a 3d scan you lucky thing!
We just had a detailed scan with Rhys, and a nuchul measurement which changed the odds from 1:120 to 1:240 (I think) something around that.
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glght7
Junior Member
Posts: 184
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Post by glght7 on Oct 8, 2006 19:16:34 GMT
hi nikki i just wanted to say i'm glad all went well at the hospital
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