question about duchenne muscular dystrophy and CVS

[flippityjibbet]

Hi,
My friend id expecting her second child, it has recently come out that her mother had a son with duchenne muscular dystrophy before she was born and he was given up for adoption and died aged 28 (came out after he died for some reason)
my friend has been told by her mother that she is a carrier of the affected gene and therefore her unborn baby would have a chance of being affeted. It apparently only affects boys but girls can carry.
she refuses to use the gp for some reason and is going to have screening at a private medical centre in london.
I'm really worried for her because she has no information at all and is painfully shy.

does anyone know what she should expect? she thinks that if the doctor is sure she is having a girl then there is no need for a cvs... I have tried to talk to her about the risks a cvs brings with it but she is almost in denial. its very strange but if I were armed with info I could maybe help her more...
thanks.

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Hi, I have no direct experience of this particular condition. Your friend is probably feeling very shocked.

Check out
www.muscular-dystrophy.org/information_resources/factsheets/medical_conditions_factsheets/duchenne.h tml

It is true that if she is expecting a girl, she would either be clear or a carrier, and if a boy he could be unaffected or affected (50% chance). She may be retested herself to check if she is a carrier and she could do CVS to find out the MD status of the baby before birth.

It is interesting to note that they now believe 50% of all MD cases are the result of a random mutation and not heritable (see link above).

I can understand why she may not want to go to her GP. She may know him/her, or believe she may get faster treatment in London. There may be a specialist centre that she has been recomended to go to. I know that she will be getting genetic counselling wherever she has these investigations done and lots of info too. I wish her lots of luck and you could also suggest she gets in touch with ARC (Antenatal results and choices) who can be very helpful in these circs.

thankyou theo that is very helpful and interesting.