Newborn Screening for Inborn Errors of Metabolism

  • Carol L. GreeneEmail author
  • Dietrich Matern


Newborn screening (NBS) is a system developed for early identification and treatment of newborns who have conditions for which treatment initiated in a timely fashion may prevent death or disability. Since public health departments began screening for phenylketonuria using blood collected on filter paper in the early 1960s, NBS has expanded to include other conditions, using a variety of analytical methods. This chapter focuses on NBS as blood spot screening of unselected newborns for evidence of inborn errors of metabolism. The principles considered here will also apply to NBS using blood spot samples for conditions other than IEM (including other genetic conditions such as cystic fibrosis or hemoglobinopathies and nongenetic conditions such as hypothyroidism and infections including HIV and CMV) and to some aspects of point-of-care screening (including hearing screening and pulse oximetry for critical congenital heart defects). In order for the practicing physician to be an effective partner in the NBS process, this chapter includes an overview of the history, evolving goals, principles, methodology, short- and long-term follow-up issues, and future challenges for NBS.


Health Care Provider Inborn Error Congenital Hypothyroidism Maple Syrup Urine Disease Fatty Acid Oxidation Disorder 
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© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of PediatricsUniversity of MarylandBaltimoreUSA
  2. 2.Division of Laboratory Genetics, Departments of Laboratory Medicine and Pathology, Medical Genetics, and Pediatric and Adolescent MedicineMayo Clinic College of MedicineRochesterUSA

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