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
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.
Samples—Participate in Ongoing Research at Mayo Clinic
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.
you would like to participate and a newborn screening sample may still be available,
please contact a biochemical genetic counselor by e-mail at email@example.com 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.