Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
Open Access
- 14 August 2020
- journal article
- research article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 6 (3), 64
- https://doi.org/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.Keywords
This publication has 8 references indexed in Scilit:
- Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United StatesInternational Journal of Neonatal Screening, 2020
- Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repositoryPLOS ONE, 2020
- Case Definitions for Conditions Identified by Newborn Screening Public Health SurveillanceInternational Journal of Neonatal Screening, 2018
- NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource CenterInternational Journal of Neonatal Screening, 2017
- Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen statesMolecular Genetics and Metabolism, 2015
- Neonatal screening for congenital adrenal hyperplasiaNature Reviews Endocrinology, 2009
- Cutoff Levels of 17-α-Hydroxyprogesterone in Neonatal Screening for Congenital Adrenal Hyperplasia Should Be Based on Gestational Age Rather Than on Birth WeightJournal of Clinical Endocrinology & Metabolism, 2005
- Congenital Adrenal HyperplasiaPediatric Drugs, 2001