The Current State of Newborn Screening in the United States

Noelle Andrea V. Fabie, Kara B. Pappas, Gerald L. Feldman

Research output: Contribution to journalReview articlepeer-review

29 Scopus citations


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.

Original languageEnglish
Pages (from-to)369-386
Number of pages18
JournalPediatric Clinics of North America
Issue number2
StatePublished - Apr 2019


  • ACMG ACT sheets
  • Dried blood spot
  • Inborn errors of metabolism
  • Newborn screening
  • Tandem mass spectroscopy


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