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. 2023 Apr 13;9(2):23.
doi: 10.3390/ijns9020023.

Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020

Amy Gaviglio  1 , Sarah McKasson  1 , Sikha Singh  1 , Jelili Ojodu  1
Affiliations

Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020

Amy Gaviglio et al. Int J Neonatal Screen. .

Abstract

Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly. NBS continues to be one of the most successful public health interventions in the US, providing early detection and intervention to all infants. The increase in overall birth prevalence of core Recommended Uniform Screening Panel (RUSP) diseases detected via dried blood spot (DBS) specimens from 2015-2017 (17.50-18.31 per 10,000) to 2018-2020 (20.07 per 10,000), as reported into the APHL NewSTEPs database, affirms the importance and impact of NBS programs. This report presents aggregate numbers and birth prevalence of diseases detected by DBS on the RUSP from 2018-2020, including data from fifty US states and two territories.

Keywords: birth prevalence; newborn screening; rare disease.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

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