In 1989, the Texas Newborn Screening (NBS) Program implemented screening for Congenital Adrenal Hyperplasia (CAH), an endocrine disorder that can cause critical medical emergencies within the first week of the life in infants with the more severe salt wasting form of CAH (SW-CAH). The NBS Program is seeking to improve CAH screening and disorder reporting algorithms by reducing the number of false positive screens reported. To this end, the Texas Department of State Health Services proposes the study 'Performance Evaluation Study of a Second-Tier CAH Screening Method Utilizing Steroid Profiling by LC-MS/MS'in response to the funding opportunity titled 'Program to Enhance State Public Health Laboratory Capacity for Newborn Bloodspot Screening'. The goal of the project is to identify/develop and optimize a second- tier screen test that employs use of a Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) methodology that is cost-effective, time-sensitive and increases the specificity of the newborn screen. This goal will be attained through four phases of activities including initial investigation and optimization of a test method, performance of a validation study, a pilot study to establish appropriate population-specific cutoffs, and evaluation of the study results to determine if implementation of the second-tier test would be cost effective. The over-arching purpose of the project is to reduce false positive CAH results and increase the positive predictive value of the screen.
This research project will directly impact public health as the proposed second-tier testing of screen positive specimens, if implemented will decrease the number of false positive results reported annually for Congenital Adrenal Hyperplasia (CAH). CAH is a genetic disorder that can lead to mental retardation, severe illness and death if not identified within the first weeks of life. By decreasing the number of false positive results reported, fewer infants will require follow-up diagnostic testing and the parents and physicians of infants who do screen positive for this disorder will gain confidence in the screening method and laboratory results. Increased accuracy of the screen methods should lead to a greater compliance with the recommended immediate evaluation and performance of confirmatory testing, thereby decreasing the time to treatment and improving lifetime outcomes for these children.