Hi Dona
Basically you have the option of whether to opt for pre-natal treatment or not in the 1 in 8 event of having a female with SWCAH. Dexamethasone is a strong drug which crosses the placenta to hopefully block the excess androgen production and virilisation of a female with CAH. Thus reducing the need for corrective surgery as a bub.
This involves taking the Dexamethasone early on in the pregnancy, followed up with a CVS at 11-12 weeks to determine the baby's sex and if they have CAH, you then stay on the Dex if female and positive, or wean off and enjoy a normal pregnancy! The Dexamethasone is a strong drug and has side effects for the Mum. (Mostly unpleasant)
If you don't take Dexamethasone, you can still have a CVS so you know where you stand, or wait until baby is born and test for CAH then. It's an invasive procedure with some risk.
For us over the past 2 years in trying to conceive no 2 (we have a SWCAH daughter who was born virilised 3 years ago) I took Dex and miscarried at 8 weeks, then took Dex again and while testing for CAH (which was negative) our baby had another rare fatal genetic condition which we sadly terminated at 17 weeks. :(
I then decided on not taking Dex with third pregnancy and are happy to report we are having a baby girl in a few months who does not have CAH, it is all luck of the draw!
It is a very personal decision to make, your best bet is to speak with your children's endochrinologist initially who may be able to refer you to an adult endo.
Dona - I think you are still in QLD? I can highly recommend Dr Andrew Cotterill at the Mater for an initial discussion and the Queensland Ultrasound clinic should you decide to go down the CVS path.
I wish you all the best. Send me an email if you want to know more.
