Before I had CVS testing (it is like an amnio but earlier), we had a blood test (DNA) test done. The blood was taken locally and then sent to Dr. Maria New's office at Cornell University in New York City. It told us what kind of CAH gene we were carrying. Both my hushand and I, had the gene for the classical salt wasting CAH. Here is the information about the testing (again you need the blood test before the amnio or CVS on the unborn baby).

Prenatal Diagnosis of CAH

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.