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Hello thank you for this website and discussion board. My wife is in week 32 of her pregnancy and we have been told that is "likely" or "50-50" (depending on the doctor) that our unborn child has CAH do to enlarged adrenal glands. The adrenals currently measure 21mm at week 32. They are recommending we do an amniocentesis to determine for sure on a diagnosis of CAH but we are reluctant because it is an invasive procedure with significant risk and it is our understanding any prenatal medication needs to be started much earlier to have any effect. So far the ultra sound techs have been telling us it is a girl but the doctors have all been withholding declaring a sex until the baby is born and warned us it may need testing for sex to be determined after birth without an amniocentesis. They have been having us do ultrasounds every two weeks since the large adrenals were discovered in an ultra sound at week 21. No virilization has been noticed in the scans so far.
I have requested many times for genetic screening for CAH to see if my wife and I are carriers but they say it would not be conclusive because CAH can be caused be a random mutation. My wife was an orphan with no family history but I have no knowledge of the condition in my family history. They have refused to give us the referral we need to have testing done and paid for by our insurance. Is there any advise that can be offered? Should we do the amniocentesis, is genetic testing really inconclusive, what questions should we be asking or is there anything else that this group's experience can bring to bear?
