Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States.

Sari Edelman,Trey Pigg,Hiral Desai,Jelili Ojodu,Careema Yusuf

doi:10.3390/ijns6030064

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.

Highlights

Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk for certain disorders in the first days or weeks after birth, in order to prevent permanent disability or death
This paper provides a landscape of congenital adrenal hyperplasia (CAH) screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs) data repository
By the time CAH was added to the Recommended Uniform Screening Panel (RUSP) in 2005, 72% (n = 38/53) of NBS programs were already universally screening for the disorder

Summary

Introduction

Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk for certain disorders in the first days or weeks after birth, in order to prevent permanent disability or death. This paper provides a landscape of congenital adrenal hyperplasia (CAH) screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs) data repository. By the time CAH was added to the RUSP in 2005, 72% (n = 38/53) of NBS programs were already universally screening for the disorder. All 53 NBS programs universally screen for CAH, programs which consist of the 50 US states, the District of Columbia, Puerto Rico and Guam (Figure 1). By identifying babies with severe, salt-wasting CAH before they develop adrenal crises, screening reduces morbidity and mortality, especially among affected boys. Diagnosis is based on elevated levels of 17-hydroxyprogesterone (17-OHP), the preferred substrate for steroid 21-hydroxylase [3]

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Discussion

Conclusion