Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

Abstract

Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory Committee’s Recommended Uniform Screening Panel (RUSP) have been adopted by most state NBS programs; however, each state mandates specific disorders to be screened and implements their own system processes. Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical assistance and Evaluation Program data repository. Data reported encompasses NBS state profile data (follow-up, disorder testing and the reporting of processes and methodologies for screening), quality indicator data (timeliness of CAH NBS) and confirmed cases. This comprehensive landscape analysis compares the CAH NBS systems across the US. This is vital in ultimately ensuring that newborns with CAH at risk of salt crisis receive appropriate intervention in a timely manner.

The Cost-Effectiveness of Congenital Adrenal Hyperplasia Newborn Screening in Brazil: A Comparison Between Screened and Unscreened Cohorts

“…Other NBS programs also face similar problems ( 19 , 34 , 36 ). Clearly, this issue presents implications for the cost-effectiveness of NBS, and its improvement must be targeted by NBS programs ( 37 ). Respecting the recommended age at sample collection of 3–5 days and improving the subsequent flow in obtaining the NBS results would allow patients to be earlier diagnosed and therefore decrease the hospitalization rate and costs.…”

Newborn Screening in Pediatric Endocrine Disorders

“…For 21-hydroxylase deficiency screening, the assayed analyte cutoff levels used for first tier screening may vary from state to state and the second-tier LC/MS-MS cut-offs whether done in-state or out-of-state may also vary. This creates a paucity of uniform parameters and the varying landscape of CAH NBS systems is being addressed by NewSTEPS [43]. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) data repository can analyze timeliness of testing, reporting and intervention, and thus, helping with the continuous quality improvement processes in CAH screening programs (https://www.newsteps.org/ last accessed on 10 March 2022).…”

Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia

“…In 2005, the first nationally recommended NBS panel in the US was adopted, and it included classic CAH; ten US states started screening for the disorder after the recommendation [ 24 ]. The same 2006 journal supplement contained the reports supporting the screening panel [ 80 ] together with a commissioned economic evaluation of disorders on that panel, including CAH [ 77 ].…”

“…Several programs have adopted second-tier screening to reduce the number of infants who need to be recalled for confirmatory testing. Some states conduct 17-OHP fluoroimmuoassay testing on repeat specimens, using extraction to remove cross-reacting steroid sulfates, other states conduct second-tier screening using liquid chromatography tandem mass spectrometry (LC–MS/MS) and still others conduct 17-OHP testing on repeat specimens to reduce the number of infants who need to be recalled for confirmatory testing [ 15 , 23 , 24 , 25 ]. A DNA-based second-tier screening test can also be used in place of LC–MS/MS.…”