Newborn screening for SCID: lessons learned. Expert Rev Hematol 2016 Jun;9(6):579-84
Date
05/04/2016Pubmed ID
27139719DOI
10.1080/17474086.2016.1180243Scopus ID
2-s2.0-84975263472 (requires institutional sign-in at Scopus site) 12 CitationsAbstract
INTRODUCTION: Newborn screening (NBS) for Severe combined immunodeficiency (SCID)/severe T cell lymphopenia (sTCL) is being increasingly used worldwide.
AREAS COVERED: In this manuscript we will discuss the following: 1) The rationale for screening newborns for SCID/sTCL; 2) The scientific basis for the use of the T cell receptor excision circle (TREC) assay in screening newborns for SCID/sTCL; 3) The published outcomes of current NBS programs. Expert commentary: 4) Some of the ethical dilemmas that occur when screening newborns for SCID. Finally, we will discuss the future directions for expanding NBS to include other primary immunodeficiencies.
Author List
Buelow BJ, Verbsky JW, Routes JMAuthors
Becky J. Buelow MD Associate Professor in the Pediatrics department at Medical College of WisconsinJames Verbsky MD, PhD Professor in the Pediatrics department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Genetic TestingHumans
Infant, Newborn
Mass Screening
Neonatal Screening
Receptors, Antigen, T-Cell
Severe Combined Immunodeficiency