The Current State of Newborn Screening in the United States

Noelle Andrea V Fabie; Kara B Pappas; Gerald L Feldman

doi:10.1016/j.pcl.2018.12.007

The Current State of Newborn Screening in the United States

Pediatr Clin North Am. 2019 Apr;66(2):369-386. doi: 10.1016/j.pcl.2018.12.007.

Authors

Noelle Andrea V Fabie¹, Kara B Pappas², Gerald L Feldman³

Affiliations

¹ Division of Genetics, Genomics and Metabolic Disorders, Children's Hospital of Michigan, 3950 Beaubien Street, Detroit, MI 48201, USA; Department of Medical Genetics and Genomics, Children's Hospitals and Clinics of Minnesota, 2545 Chicago Avenue, South MDB 17-700, Minneapolis, MN 55404, USA.
² Division of Genetics, Genomics and Metabolic Disorders, Children's Hospital of Michigan, 3950 Beaubien Street, Detroit, MI 48201, USA; Department of Pediatrics, Wayne State University School of Medicine, 540 E Canfield #2375, Detroit, MI 48201, USA. Electronic address: kpappas@dmc.org.
³ Division of Genetics, Genomics and Metabolic Disorders, Children's Hospital of Michigan, 3950 Beaubien Street, Detroit, MI 48201, USA; Department of Pediatrics, Wayne State University School of Medicine, 540 E Canfield #2375, Detroit, MI 48201, USA; Center for Molecular Medicine and Genetics and Department of Pathology, Wayne State University School of Medicine, 2375 Scott Hall, 540 East Canfield, Detroit, MI 48201, USA.

PMID: 30819343
DOI: 10.1016/j.pcl.2018.12.007

Abstract

Newborn screening has evolved since its introduction in 1963. The disorders that are being screened for continue to evolve as new treatments and new technologies advance. In this review, the authors discuss the current state of newborn screening in the United States, including the disorders currently being screened for and how newborn screening is performed. They also discuss the special considerations and limitations of newborn screening in sick and premature infants and as well as some ethical issues related to newborn screening. Finally, new disorders being considered for testing and new technologies that may be used in the future of newborn screening are discussed.

Keywords: ACMG ACT sheets; Dried blood spot; Inborn errors of metabolism; Newborn screening; Tandem mass spectroscopy.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Humans
Infant, Newborn
Infant, Newborn, Diseases / diagnosis*
Neonatal Screening / ethics
Neonatal Screening / methods*
United States