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Newborn Screening: Advances, Challenges, and Future Directions

Yishay Ben-Moshe1, V Reid Sutton1

  • 1Department of Molecular & Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.

Clinics in Perinatology
|August 24, 2025
PubMed

Insights

Newborn screening (NBS) detects rare newborn conditions early. This public health program faces challenges like access disparities and ethical concerns, but remains vital for early intervention.

Area of Science:

  • Public Health
  • Genetics
  • Pediatrics

Background:

  • Newborn screening (NBS) is a crucial public health initiative in the U.S.
  • It targets early detection and management of rare, treatable congenital disorders.
  • The program screens for metabolic, endocrine, and hematologic conditions, among others.

Purpose of the Study:

  • To provide a comprehensive overview of the history and evolution of NBS.
  • To discuss the current state of NBS, including methods, interpretation, and controversies.
  • To explore future directions, particularly genomic screening in NBS.

Main Methods:

  • Literature review of NBS history, milestones, and evolution.
  • Analysis of current laboratory methods and clinical interpretation standards.
  • Discussion of persistent challenges and future trends in NBS.

Main Results:

  • NBS has evolved significantly, incorporating advanced laboratory techniques.
  • The program is cost-effective and lifesaving but faces challenges.
  • Key challenges include access disparities, ethical considerations, and diagnostic complexity.

Conclusions:

  • NBS is a cornerstone of pediatric public health, enabling early intervention.
  • Addressing disparities and ethical issues is crucial for program equity.
  • Genomic screening represents a promising future trajectory for NBS.

Keywords:
Inborn error of metabolismMetabolic diseaseNewborn screeningPublic health

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