Blood Spot Sample Study

While significant advancements to improve newborn screening for CAH have been made in recent years, there remains considerable room for improvement. Currently, CAH has been fully implemented into newborn screening programs across all 50 states. Newborn screening has been most effective in detecting the cases of CAH caused by 21-hydroxylase deficiency, but current methods have not proven as reliable in detecting less common forms, including 11-ß-hydroxylase deficiency.  

Based on previous work, Dr. Dietrich Matern and colleagues in the Biochemical Genetics Laboratory at Mayo Clinic are working to further improve current screening strategies by determining the analyte ranges that correspond to CAH caused by other enzyme deficiencies, in addition to 21-hydroxylase. In order to accomplish this, the Biochemical Genetics Laboratory aims to collect and analyze leftover newborn screening samples of patients diagnosed with any form of CAH. The results from this study are expected to enhance newborn screening for CAH two-fold: a) by allowing for the identification of individuals with less common forms of CAH; and b) by reducing the number of false positive results through steroid profile analysis. Early detection and diagnosis allows for treatment of affected infants prior to the onset of symptoms.

Call for Samples—Participate in Ongoing Research at Mayo Clinic

Members of CARES Foundation may be able to help in this effort by allowing Mayo Clinic to analyze any leftover newborn screening samples that may still be available in the newborn screening lab of the state where a CAH patient (less than 8 years old) was born (see chart to determine if your blood spot sample may still be available or call the respective screening laboratory to determine if a sample may still be available). Analysis of such precious samples would allow Mayo Clinic’s Biochemical Genetics Laboratory to accelerate the completion of this study and achieve more quickly the ultimate goal of improving newborn screening for CAH.

http://genes-r-us.uthscsa.edu/resources/consumer/statemap.htm

If you would like to participate and a newborn screening sample may still be available, please contact a biochemical genetic counselor by e-mail at biochemicalgenetics@mayo.edu or phone at 507-266-8158 for assistance in requesting this sample from the respective newborn screening laboratory. If you have any questions or concerns, Dr. Matern or a member of his research team would be happy to discuss the study with you in more detail. Please call with any inquiries or to assist with initiating participation in the study. Thank you in advance for considering this request. We greatly appreciate your time and cooperation.