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American Academy of Pediatrics
Article

Navigating Newborn Screening in the NICU: A User’s Guide

David Kronn
NeoReviews May 2019, 20 (5) e280-e291; DOI: https://doi.org/10.1542/neo.20-5-e280
David Kronn
*Department of Pathology and Pediatrics, New York Medical College, Valhalla, NY
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  • Abbreviations:
    ACMG:
    American College of Medical Genetics and Genomics
    BIA:
    bacterial inhibition assay
    GAMT:
    guanidinoacetate methyltransferase
    MCAD:
    medium chain acyl-CoA dehydrogenase
    MS/MS:
    tandem mass spectroscopy
    MSUD:
    maple syrup urine disease
    NBS:
    newborn screening
    PKU:
    phenylketonuria
    RUSP:
    recommended uniform screen panel
    SCAD:
    short-chain acyl-CoA dehydrogenase
    SMA:
    spinal muscular atrophy
  • Abstract

    Newborn screening (NBS) is the largest public health program in the United States, affecting every newborn. The purpose of newborn screening is to identify newborns at risk for selected disorders during the presymptomatic phase, with the hope that early intervention can prevent disease progression. NBS began in the early 1960s following the pioneering work of Robert Guthrie with phenylketonuria. Since then, NBS has expanded, with testing available for more than 50 disorders in most states. Screening tests need to be highly automated, with high sensitivity and specificity to avoid missing patients with disease, and ensuring manageable false-positive rates. Current initiatives in NBS include timeliness to ensure that results of the screen are available by 5 days after birth for a core set of critical conditions. This has resulted in the current recommendation for NBS specimens to be collected at 24 to 48 hours after birth. False-positive rates are higher in the NICU, because of the metabolic instability of sick neonates and the immaturity of premature enzyme systems. The recommended uniform screen panel (RUSP) contains the current list of disorders screened for by most states. Additional disorders continue to be added to the RUSP as medical progress allows previously untreatable disorders to be managed successfully, and thus the need to screen emerges. The costs associated with NBS continue to climb, because despite state-mandated screening, the diagnostic evaluation and treatment of these conditions has no such mandate. This is a particular concern for disorders with annual treatment costs of several hundred thousand dollars.

    • Copyright © 2019 by the American Academy of Pediatrics

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    NeoReviews
    Vol. 20, Issue 5
    1 May 2019
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    Navigating Newborn Screening in the NICU: A User’s Guide
    David Kronn
    NeoReviews May 2019, 20 (5) e280-e291; DOI: 10.1542/neo.20-5-e280

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    Navigating Newborn Screening in the NICU: A User’s Guide
    David Kronn
    NeoReviews May 2019, 20 (5) e280-e291; DOI: 10.1542/neo.20-5-e280
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    • Table of Contents

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    • Article
      • Abstract
      • Education Gaps
      • Objectives
      • Introduction
      • History: The Timeline of NBS
      • The Newborn Screening Specimen
      • Timeliness of NBS Results
      • Test Sensitivity and Specificity
      • NBS Disorders
      • Experience with Newborn Screening in the NICU
      • Our Experience with Newborn Screening in the NICU Setting
      • Management of Newborn Screening Referrals in New York
      • Adding Disorders to the NBS Panel
      • Recent Additions to the Newborn Screen
      • The Future
      • Conclusions and Concerns
      • Useful Websites
      • Footnotes
      • References
    • Figures & Data
    • Info & Metrics
    • Comments

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    • Congenital Hyperinsulinism
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