Performance Evaluation Study of a Second-Tier CAH Newborn Screening Method Utilizing Steroid Profiling by LC-MS/MS
Tue 3:30 PM - Track 3: Newborn Screening
Mark Fountain (in place of Patricia Hunt)
Texas Department of State Health Services
View Long Abstract
Newborn screening (NBS) is essential for early identification of genetic disorders in newborns including CAH. The primary screening method currently used by the Texas NBS program is an FDA approved immunofluorescent assay that measures the principal CAH marker, 17-รก-hydroxy-progesterone (17-OHP). It is a relatively rapid and inexpensive assay but recent manufacturing changes led to an increase in false positives for the Texas NBS program. To reduce false positives, the NBS Program proposed a review and optimization of existing LC-MS/MS second-tier CAH methods that measure 17-OHP and relevant markers and performance of a pilot study to evaluate the efficacy of implementation.