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

Amy Gaviglio1, Sarah McKasson1, Sikha Singh1

  • 1Association of Public Health Laboratories, Silver Spring, MD 20910, USA.

International Journal of Neonatal Screening
|April 24, 2023
PubMed

Insights

Newborn screening (NBS) programs are vital public health systems. Data shows an increasing birth prevalence of screened congenital diseases, highlighting the critical need for early detection and intervention in infants.

Area of Science:

  • Public Health
  • Genetics
  • Pediatrics

Background:

  • Newborn screening (NBS) identifies congenital diseases in infants before symptoms appear.
  • Early detection and intervention are crucial to prevent mortality and morbidity.
  • NBS is a highly successful public health initiative in the United States.

Purpose of the Study:

  • To report aggregate birth prevalence data for diseases on the Recommended Uniform Screening Panel (RUSP).
  • To analyze trends in disease detection via dried blood spot (DBS) specimens from 2018-2020.

Main Methods:

  • Utilized data from the APHL NewSTEPs database.
  • Analyzed aggregate numbers and birth prevalence of RUSP diseases detected by DBS.
  • Included data from fifty US states and two territories for the period 2018-2020.

Main Results:

  • Observed an increase in the overall birth prevalence of core RUSP diseases from 2015-2017 (17.50-18.31 per 10,000) to 2018-2020 (20.07 per 10,000).
  • Presented comprehensive data on diseases detected through NBS using DBS specimens.

Conclusions:

  • The rising birth prevalence underscores the ongoing importance and impact of NBS programs.
  • Continued surveillance and reporting are essential for monitoring and improving newborn health outcomes.

Keywords:
birth prevalencenewborn screeningrare disease

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