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Related Experiment Video

Updated: Jul 16, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

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Newborn Screening.

Kara B Pappas1

  • 1Division of Genetics, Genomics and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI, USA; Department of Pediatrics, Central Michigan University, Mount Pleasant, MI, USA.

Pediatric Clinics of North America
|September 13, 2023
PubMed
Summary

Newborn screening identifies critical infant conditions for early intervention. Pediatricians are key in managing screening results, diagnosis, and treatment to prevent serious health issues.

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Area of Science:

  • Medical Genetics
  • Pediatrics
  • Public Health

Background:

  • Newborn screening is crucial for detecting congenital disorders early.
  • Early diagnosis and treatment significantly reduce morbidity and mortality.
  • Pediatricians play a central role in the newborn screening process.

Purpose of the Study:

  • To provide a comprehensive overview of newborn screening in the U.S.
  • To detail various screened disorders, their symptoms, and management.
  • To discuss the practical aspects of newborn screening for healthcare providers.

Main Methods:

  • Literature review of current newborn screening practices.
  • Synthesis of information on common and rare genetic disorders.
  • Outline of the screening, diagnostic, and treatment pathways.
Keywords:
Congenital heart diseaseEndocrine disordersGalactosemiaHearing lossHemoglobinopathiesImmunodeficiencyInborn errors of metabolismNewborn screening

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Last Updated: Jul 16, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Published on: August 25, 2014

86.1K
Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants
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Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants

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Main Results:

  • Overview of key newborn screening tests and disorders.
  • Description of clinical manifestations and genetic basis of screened conditions.
  • Summary of current treatment and management strategies.

Conclusions:

  • Newborn screening is an essential public health service.
  • Effective management relies on timely diagnosis and coordinated care.
  • Continued vigilance and updated screening protocols are vital for infant health.