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How to Obtain Reliable Visual Event-related Potentials in Newborns
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How to Obtain Reliable Visual Event-related Potentials in Newborns

Published on: October 24, 2019

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The Current State of Newborn Screening in the United States

Noelle Andrea V Fabie1, Kara B Pappas2, Gerald L Feldman3

  • 1Division of Genetics, Genomics and Metabolic Disorders, Children's Hospital of Michigan, 3950 Beaubien Street, Detroit, MI 48201, USA; Department of Medical Genetics and Genomics, Children's Hospitals and Clinics of Minnesota, 2545 Chicago Avenue, South MDB 17-700, Minneapolis, MN 55404, USA.

Pediatric Clinics of North America
|March 2, 2019
PubMed

Insights

Newborn screening has advanced significantly since 1963, expanding the range of detectable disorders and improving testing technologies. This review covers current practices, challenges with premature infants, ethical considerations, and future directions in newborn screening.

Area of Science:

  • Medical Genetics
  • Public Health
  • Neonatology

Background:

  • Newborn screening (NBS) has undergone substantial evolution since its inception.
  • Advances in treatments and technology continually shape the scope of NBS.

Purpose of the Study:

  • To review the current landscape of newborn screening in the United States.
  • To examine the evolution of screened disorders, methodologies, and emerging challenges.

Main Methods:

  • Literature review of current newborn screening practices.
  • Analysis of advancements in screening technologies and potential new targets.
  • Discussion of special considerations for vulnerable infant populations.

Main Results:

  • NBS protocols have expanded to include a wider array of genetic and metabolic disorders.
  • Screening methodologies are becoming more sophisticated, enabling earlier detection.
  • Special considerations are necessary for sick and premature infants, alongside ethical discussions.

Conclusions:

  • Newborn screening remains a dynamic field, adapting to technological progress and new medical knowledge.
  • Future NBS will likely incorporate novel technologies and expand to include additional treatable conditions.
  • Continuous evaluation of ethical implications and equitable access is crucial for effective NBS programs.

Keywords:
ACMG ACT sheetsDried blood spotInborn errors of metabolismNewborn screeningTandem mass spectroscopy

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