Genetic screening - any experiences

Crystallady

I was screened for Muscular Dystrophy 20 odd years ago when I became pregnant as my uncle suffered from it. When I had asked about being tested before I was pregnant I was told they couldn't do it until I was pregnant which was totally the wrong information. :-( They tested me, my mum, my uncle and another brother who didn't suffer from it. We were told that it could be one of two types of MD Duchennes or another (I can't remember the name of). Unfortunately the results were inconclusive so we spoke with a genetics consultant who gave us the "odds" on the baby suffering from MD.
The way he explained it was that the defective gene is in the X chromosone and as girls have 2X's they don't suffer from MD they only carry the defective gene but as boys only have one X chromosone they suffer from it. So if the mother is a carrier it depends on which X chromosone is passed on the good one or the damaged one)and the sex of the baby.
We had to wait until our son was born to get the final tests done at around 6 weeks when they tested for a marker in his blood - luckily everything was OK and now he's a strapping 6 footer.
Good luck with the testing and please don't think of yourself as at fault if you do find you're a carrier - it's no one's fault

roses

It's very brave of you and responsible to do this and you should be proud of yourself

There is always adoption if you don't have a child of your own due to it.