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

Newborn screening and the obstetrician.

Nancy C Rose1, Siobhan M Dolan

  • 1Intermountain Healthcare, University of Utah School of Medicine, Intermountain Medical Center, Maternal Fetal Medicine, Salt Lake City, Utah 84157, USA. Nancy.rose@imail.org

Obstetrics and Gynecology
|September 22, 2012
PubMed
Summary

Newborn screening identifies critical genetic disorders in infants, enabling early intervention to prevent lifelong disabilities. This vital public health program, ongoing for over 50 years, screens millions of newborns annually in the U.S.

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Area of Science:

  • Public Health
  • Genetics
  • Pediatrics

Background:

  • Newborn screening is a large-scale U.S. genetic program screening ~4 million infants annually.
  • Established for over 50 years, it involves state-managed programs for screening, diagnosis, and care coordination.
  • Ideal screening targets disorders where early intervention prevents infant disability or death.

Purpose of the Study:

  • To provide an overview of the current state of newborn screening programs.
  • To highlight the 31 core conditions recommended for screening.
  • To discuss the evolving landscape of newborn screening with genomic medicine and the use of residual blood spots.

Main Methods:

  • Blood samples are collected from a newborn's heel onto filter paper for testing.
  • Screening for core disorders is standardized, while expanded screening varies by state.
  • Ongoing evaluation of new disorders for inclusion in screening panels is conducted.

Main Results:

  • Currently, 31 core conditions are recommended for state newborn screening programs.
  • Screening protocols are largely standardized for core disorders, but variations exist for expanded testing.
  • The field is evolving with genomic medicine, necessitating consideration of chronic diseases and research use of residual samples.

Conclusions:

  • Newborn screening is a critical public health initiative with a long history of development.
  • Obstetric providers should educate expectant parents about the newborn screening process.
  • Future directions include expanding screening with genomic advances and utilizing residual blood spots for research.