genetecist

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Xxxpolxxx
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Posted: Fri Jan 25, 2013 9:44 pm 
Post subject: genetecist
has anyone had to go and see one of these??
what sort of things do they diagnose??
thank you x
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Xxxpolxxx
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Posted: Sat Jan 26, 2013 12:26 pm 
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wow! thanks for all the help :/
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123babycakes
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Posted: Sat Jan 26, 2013 12:40 pm 
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Nope, never had to go to one, and no idea what they do.

Why have you been referred? Do you have any potential heriditary health issues?
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Posted: Sat Jan 26, 2013 1:24 pm 
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I have no idea, sorry.

I've found this that you've probably already read:

http://www.nhs.uk/Conditions/Genetics/Pages/genetic-testing-and-counselling.aspx

And:

http://www.babycenter.com/0_prenatal-genetic-counseling_1607.bc
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XxxJaydensMummyxxX
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Posted: Sat Jan 26, 2013 1:58 pm 
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Not sure if this is what you mean but i have been under a consultant since my 20 weeks scan due to baby bones being under the 3rd centile this was associated with downs syndrome and also dwarfism i have been having regular scans on the growth on his bones and was advised to have have a amnio because they couldn't say for definite that it was one or the other or if he is just going to be smaller. it took us a while to decide but i had a amnio done on the 3rd of this month (was 28 weeks).
We have had 3 sets on results back the 1st was for the downs and other chromosomal tests and we got them within 3 days the next lot was for dwarfism (specially requested as its not a routine test) about a week later then the last lot was the other day for single gene disorders like cystic fibrosis all have come back fine for us. am waiting to go back to my consultant to discuss where we go for here.

I think if anything was to be found we would have to be sent to a specialist. have they suggested something may be wrong??

Sam
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dellabobella
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Posted: Sat Jan 26, 2013 3:17 pm 
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My eldest has down syndrome and I was under consultant care for my next three pregnancies but I don't ever actually ever being referred to genetic counseling or that my consultant was a specialist in genetics. I had testing in all three of my last pregnancies and a CVS in the last two and I still don't remember anything like that. It all came under Fetal Medicine.
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Xxxpolxxx
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Posted: Sat Jan 26, 2013 7:19 pm 
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We have been refered because the twins im carrying should be identical as they are mcma but they think the dna didnt split equally so one has a genetical disorder. And we have refused all tests so im a bit confused as to what they would be able to tell us. I see my consultant for a scan every week and also see a professor and now a geneticist as the babys hand wrists and feet are stuck in position and it has a difference with its liver and leg bones. I dont no anyone who has seen one so have no idea what to expect xx
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AngelDelight
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Posted: Sat Jan 26, 2013 10:52 pm 
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My ds has been under a genetists since 9 months old as he's always been small height and underweight. They have done various blood tests, unfortunately it is a lengthy process as samples need to be sent away and in our circumstances they had to grow cells in labs then did further testing, sometimes it could be 6 months before we would get any results!

He is 3 now and stil under investigation hope one day we will get answers. It's good they have picked up on this while yiurpregnant. They also think my sons issues are due to genetic make up and that some DNA was not formed correctly. X
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Xxxpolxxx
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Posted: Sun Jan 27, 2013 9:06 am 
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Yeah they have been good but i cant see what they can tell us without any tests as we refused any while im pregnant x
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Katie88
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Posted: Sun Jan 27, 2013 8:32 pm 
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I'm sorry you are going through this, why did you decline tests if you don't mind me asking?
X
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Jennifer256
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Posted: Sun Jan 27, 2013 8:54 pm 
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We were asked if we wanted to see the gentics team as archie has a rare condition but our genetic tests came back that he didn't have the faulty genes, its just an anomaly that has happend however I do believe that they havent identified all the problem genes with his his condition so it could potentially still be a genetic issue and me and mark carriers of it. However e have since had Charlotte who is clear of it xx
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Xxxpolxxx
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Posted: Sun Jan 27, 2013 9:36 pm 
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We declinded the test because they would have to take a small sample of tissue from each twin but as they share a blood supply it could be contaminated by the blood they share so would be a false test and there is a 10% of miscarrage with each test and they have to do two so seemed a bit pointless. Also the test would show there was a difference but couldnt tell us what the problem was so i wasnt going to risk it xx
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keltru
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Posted: Sun Jan 27, 2013 11:12 pm 
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If your consultant suspects a genetic disorder then they've probably referred you to discuss syndromes which could affect the baby from what they already know from scans. They may have referred you so that tests can be done after baby is born as angel delight said it can take months and months to analyse DNA in order to get some results. So sorry that you're going through this hopefully the geneticist can give you some answers x x
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DL05
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Posted: Mon Jan 28, 2013 8:00 am 
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They might also want to test you and your OH to see if there's any obvious reasons in your DNA for your babies problems Question
Or maybe just to talk to you and run through all the possibilities so that you're better informed ?
This site explains why although identicals share DNA and chromosomes it doesn't mean all their DNA is identical , don't know if it helps at all , but it shows where a genetic defect can come from and how it can just affect one twin Question
http://www.multipletreasures.com/facts-about-identical-twins.php
EmLou86
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Posted: Mon Jan 28, 2013 10:59 am 
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My brother and his wife have to go to genetic councelling every child they have (currently 2 boys) as my sister-in-law has a rare genetic condition with had a 50% chance of passing on to their children (one of the boys have it, the other doesnt) they just get extra scans and hospital appointments whenever she is pregnant, but you can refuse the tests and scans but she likes to know what shes getting herself into.. so its not a shock to her as shes only young xx
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