Congenital Adrenal Hyperplasia

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re: some more questions
Mar. 31st, 2008   1:38pm

Hello,

All I can tell you is how it went in our case. Our son has had a DNA test a couple of months after birth. The result took about 9 months (it takes that long because they have to check of every possible mutation). We were tested too, but then they had to look for only 2 already know mutations, which is ofcourse a lot less work. It took 2-3 months for these results (it can be done faster, in about 6 weeks, e.g. in a pregancy, when the results are more urgent).

Everything written belowe this is in case you want to start dex. If you don't want to, the child can be tested after birth.

Has your son been tested? That makes a lot of difference. If not, it's very important to find out asap how long it will take to get these result.

If you want to take dex, I would absolutely ask if a gender test (from maternal blood) is possible. It can be done from  7 weeks of pregnancy and the result takes about a week. I case of a boy the dex can be stopped and he can be tested after birht.   

A CVS between 10 and 12 weeks. An amnio arond 15 weeks. I had an amnio at 15 weeks, the results of the DNA test took about 6 weeks. 

But ofcourse for all this your sons mutations need to be known before the CVS or amnio is done. Otherwise they don't know what to look for and I guess it will take to long just to test the baby. I've have asked our sons ped endo if continuing the dex in case of a girl without doing a CVS or amnio was an option. He said very clearly no! for the simple reason that it's harmfull for an unaffected child, and not good for the mother. Chances of this are 75%.  

I hope this makes sense. If you have more questions or if I need to explain something, just let me know.

 

Good luck, Jess.

 

P.S. Our little girl isn't born yet. I'm now 40 weeks and 5 days, so it's about time :-). We know she will not have CAH.

Jess




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