Newborn screening expands: Recommendations for pediatricians and medical homes - Implications for the system

E. Stephen Edwards, Vinod K. Bhutani, Jeffrey Botkin, Barbara Deloian, Stephen Deputy, Timothy Geleske, Joseph H. Hersh, Celia Kaye, Jennifer Lail, Michele A. Lloyd-Puryear, Michael Watson

Research output: Contribution to journalArticlepeer-review

68 Scopus citations

Abstract

Advances in newborn screening technology, coupled with recent advances in the diagnosis and treatment of rare but serious congenital conditions that affect newborn infants, provide increased opportunities for positively affecting the lives of children and their families. These advantages also pose new challenges to primary care pediatricians, both educationally and in response to the management of affected infants. Primary care pediatricians require immediate access to clinical and diagnostic information and guidance and have a proactive role to play in supporting the performance of the newborn screening system. Primary care pediatricians must develop office policies and procedures to ensure that newborn screening is conducted and that results are transmitted to them in a timely fashion; they must also develop strategies to use should these systems fail. In addition, collaboration with local, state, and national partners is essential for promoting actions and policies that will optimize the function of the newborn screening systems and ensure that families receive the full benefit of them.

Original languageEnglish (US)
Pages (from-to)192-217
Number of pages26
JournalPediatrics
Volume121
Issue number1
DOIs
StatePublished - Jan 2008
Externally publishedYes

Keywords

  • Children with special health care needs
  • Genetic disorders
  • Medical home
  • Newborn screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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