I had genetic testing done after our first child (boy) was born with CAH. I and my husband are carriers. The ped endo doctor took blood from me and my husband (locally) and it was sent to Dr. Maria New in New York City because she has the technology to look at the DNA. I would highly recommend that you have Dr. Maria New do the blood testing to see if you are a carrier and have your wife blood analyzed too. Here is her web site and email. There is a main phone with a secretary on the web site too. Because Ann Carlson phone is very busy. Call the main phone number and ask for her.
My question to her and your endo is - If she has CAH and is taking steriods - and you are a carrier (rare - but could happen) - would she need more steriods while pregnant to prevent virilization of a female baby or what the baby not be virilized because she is taking steriods.
I had to take steriods while pregnant because I did not have CAH and of course not on steriods and if the baby was a female with CAH and I didn't take dex while pregant then she would have too much male hormones and would be born with abnormal externl genitalia. Then with our baby - I had amnio. With my other two boys - I had CVS - like an amnio but earier.
If you are already taking dex or steriods then what?
Well... I think ... (my two cents) - chances are slight that you are a carrier and it takes both parents to be carrier of the CAH gene to have a CAH child. And secondly - taking steriods (dex or whatever she is taking) is not a risk to the baby. She is taking it as a replacement enzyme and it is natural occurring emzyme anyway - so no affect!! Relax and have a child. Hopefully she has her CAH under control and will not have trouble getting pregnant. If CAH is not managed right - there can be fertility problems.
Prenatal diagnosis for 21-hydroxylase deficiency can be accomplished via DNA analysis.
The DNA laboratory at Cornell Medical Center can detect 9 gene defects in the 21-hydroxylase gene. This represents 95% of all abnormal genes for CAH. Using DNA analysis on fetal cells (either via amniocentesis or CVS) the laboratory can determine whether a fetus is affected with CAH, a carrier of CAH or carries no genes for CAH with 95% accuracy. A
CAH Genetics Testing Fact Sheet is provided to answer the most common questions about CAH and the genetic tests offered at the Cornell Medical Center.
Specimen Handling and Patient Information Forms are available to provide specific information on submitting a sample for genetics testing.
If you would like more information about our laboratory services please call our genetic counselor Ann Carlson, MS at:
phone: (212) 746-3495 or
e-mail: adcarlso@mail.med.cornell.edu.