re: genetic testing
May. 29th, 2003   9:33am

About a year after my son was born and diagnosed as a SWCAH, my husband and I thought about having another child. My son’s endo recommended we meet with a OB specialist and genetic councilor to go over any questions we may have about the disorder and subsequent pregnancies.  Both my husband and I had DNA testing to validate we were carriers and it wasn’t a fluke of mutation that Nick has CAH.  As expected, it turns out both my husband and I have mutations for CAH.  It is my understanding that both parents have to be carriers to have a child with CAH.  Otherwise if only one has a mutation and the pass it on to the child the child would only be a carrier as well.

We were told we have a 1 in 4 chance of having another child with CAH.  I am currently 24 weeks pregnant with a girl.  We had here DNA tested and she does have CAH.  I have been taking DEX since my 5th week of pregnancy (the sooner you start the DEX the better chance you have of avoiding surgery if the baby is a girl and has CAH) and everything "appears normal".

Hope this helps.

Lynne
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