Lessons Learned from Newborn Screening in Pilot Studies

N C Med J. 2019 Jan-Feb;80(1):54-58. doi: 10.18043/ncm.80.1.54.

Abstract

This commentary discusses the importance of conducting newborn screening pilot studies in North Carolina and the lessons learned from performing three pilots for severe combined immunodeficiency (SCID), mucopolysaccharidosis type I (MPS I), and X-linked adrenoleukodystrophy (X-ALD).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adrenoleukodystrophy / diagnosis*
  • Humans
  • Infant, Newborn
  • Mucopolysaccharidosis I / diagnosis*
  • Neonatal Screening*
  • North Carolina
  • Pilot Projects
  • Severe Combined Immunodeficiency / diagnosis*