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re: Prenatal Diagnosis of CAH May. 9th, 2008 10:08am
I was diagnosed prenatally earlier this year, and have to disagree with a few of the things you have been told. The genetic testing was done immediately for us and we were told that it would be conclusive--as it was. We also opted for an amneo--at 32 weeks also--because we decided that the risk of a pre-term birth (and at 32 weeks would be completely viable) was far outweighed by having a correct and early diagnosis.
I am so thankful that we went that route. It meant that we were prepared at birth for what to expect, the ambiguity of her genitalia was not a shock in the least (in fact, it was much easier to cope with than we expected it to be!), but more importantly it meant that I gave birth in a hospital that was prepared for our daughters unique challenges, and that there was a phenomenal team of doctors in place and ready to care for her. She was given all necessary meds within 24 hours, and I am confident that her great health today at 15 weeks is due in large part to the early intervention.
You will, of course, do what's best for yourselves, but do be prepared for every possibility. At the very least, I would absolutely insist upon genetic tests for you and your wife. From my own experience, it was nothing more than a simple blood draw from each of us, the blood was sent to Cedars Sinai to be tested, and our results were back within two weeks.
