genetic testing/counselling

miss charlie · Apr 23rd, 2009, 05:53 AM

I have a genetic eye condition called Aniridia which is caused by a deletion of a gene on my 11th chromosome...as such it is a dominant characteristic so theres a 50:50 chance of passing it on to every child.

I'm very lucky in that I do not suffer anywhere near as badly with my eye condition as others do so with luck if my bubba had it it would still be able to see and lead a relatively normal life - BUT I may end up with a child who is severly visually impaired.

I dont think I could put my bubba at he risk of miscarriage to have the testing required in utero (amniocentisis or CVS) so I have to play the waiting game.

My question is are there any other Mums to be out there that are wrestling with the subject of genetic testing or want to see a genetic consellor?

miss charlie · Apr 23rd, 2009, 07:00 AM

Bump...

C'mon guys? No one at all needing/wanting genetic counselling?

charlottesma · Apr 23rd, 2009, 15:38 PM

I am, they just discovered I have beta thalasemia, currently I have decided to have my partner tested rather than the baby as if he is not a carrier the worst the baby can be is a carrier.

Apr 23rd, 2009, 05:53 AM	#1
miss charlie Other Active BnB Member Join Date: Oct 2008 Posts: 217	genetic testing/counselling I have a genetic eye condition called Aniridia which is caused by a deletion of a gene on my 11th chromosome...as such it is a dominant characteristic so theres a 50:50 chance of passing it on to every child. I'm very lucky in that I do not suffer anywhere near as badly with my eye condition as others do so with luck if my bubba had it it would still be able to see and lead a relatively normal life - BUT I may end up with a child who is severly visually impaired. I dont think I could put my bubba at he risk of miscarriage to have the testing required in utero (amniocentisis or CVS) so I have to play the waiting game. My question is are there any other Mums to be out there that are wrestling with the subject of genetic testing or want to see a genetic consellor?

Status: Offline

Apr 23rd, 2009, 07:00 AM	#2
miss charlie Other Active BnB Member Join Date: Oct 2008 Posts: 217	Bump... C'mon guys? No one at all needing/wanting genetic counselling?

Status: Offline

Apr 23rd, 2009, 15:38 PM	#3
charlottesma Mum (Mom) Active BnB Member Join Date: Mar 2009 Location: Nottingham Posts: 404	I am, they just discovered I have beta thalasemia, currently I have decided to have my partner tested rather than the baby as if he is not a carrier the worst the baby can be is a carrier.

Status: Offline

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