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#5945 - 09/29/06 09:37 PM A question
jrmiss86 Offline

Registered: 06/07/05
Posts: 378
Loc: Marlton, NJ, USA
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.


Mom to:
Alex (xli and Kallmans - 2/3/05)
Liz (3/16/07)

#5946 - 09/29/06 10:10 PM Re: A question
victoria Offline

Registered: 03/19/05
Posts: 193
Loc: Berkshire, England
Hiya Heather,
I had a planned c section with my second child, kian who has x linked ichthyosis - but this was because i had major problems delivering my daughter and didnt want to go there again , we basically had no idea about ichthyosis or that kian would have it until he was born.

I cant help you with the whole genetics thing, for the past two years i just seem to absorb some facts and discard pretty much anything i dont know which means anything genetic and scientific tends to go whoosh over my head lol.
What i will say though is this is your decision with regards to the amnio but if its not going to change the outcome and you could be prepared either way for the baby to have kallmans and ichthyosis then its not really worth the risk either, if i remember rightly amnios are high risk for miscarriages ?.
I dont think your being a wimp either at all i can perfectly understand your fears and especially as you say it wouldnt as easy this time around if you were to have the amnio because of a toddler running around - for me personally i would say if its not going to affect the outcome of the pregnancy and you could be mentally prepared for the baby to have ichthyosis and kallmans then its not really worth the risk of the amnio.
But i do say once again the decision is solely yours and your partners.

I wish you all the best. x


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