hey there everybody,
Well I just got back from my most recent visit to the doctors and the doctor who is going to be delivering my baby(c-section) told me that he does not think I need to have an amnio with this baby. For anybody who does no know we had an amnio done with Alex(who is now 20 months) because of the possible steriod sulfatase deficiency(sp) and the failure to progress associated with that, but also because of the possibility of kidney and heart problems associated with the kallmans syndrome. We are have this baby delivered via c-section because Alex was a c-section so that eliminates the failure to progress and my doctor told me that regardless of wether I have the amnio or not, they are going to be doing frequent ultrasounds anyway to make sure that my scar tissue does not give me any problems, so when they do the ultrasounds they will check the kidneys and heart as well.
I am really not sure If I should go ahead with the amnio or not. If this next child have the disorders then the triple screan would show it, right??? not definitivly but the estriol counts would be off. Because of the risk factors associated with the amnio I do not want to risk it if I don't have to, but at the same time, If I do need it, I don't want to not get it out of fear. I had no problems the first time around, but it will be more difficult to stay off my feat this time, with a toddler running around. It can be done, and will be done if I have to, but I would rather not have to. Am I just being a wimp about it? Any oppions would be appreciated.
And for any of the genetics people out there, what is my chances of having a child who only has one of the disorders, knowing that the frequently occur together and that I am a carrier for both and that so far in our family everybody who has this has both kallmans and the x-linked.
Alex (xli and Kallmans - 2/3/05)