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History of Newborn Screening for Cystic Fibrosis-The Early Years

Georges Travert1,2, Mary Heeley3, Anthony Heeley3

  • 1University of Caen Normandy (UNICAEN), 14032 Caen, France.

International Journal of Neonatal Screening
|October 19, 2020
PubMed

Insights

This review covers the evolution of cystic fibrosis (CF) newborn screening using immunoreactive trypsin (IRT) in dried blood spots (DBS). It highlights the shift towards combining IRT with CF genotype analysis in national screening programs.

Area of Science:

  • Neonatal screening
  • Genetics
  • Pediatric medicine

Background:

  • Cystic Fibrosis (CF) is a genetic disorder requiring early detection.
  • Neonatal screening programs aim to identify infants with CF shortly after birth.
  • Dried blood spot (DBS) testing is a common method for newborn screening.

Purpose of the Study:

  • To review the historical development of CF screening strategies.
  • To examine the use of Immunoreactive Trypsin (IRT) measurements in DBS for CF detection.
  • To analyze the integration of CF genotype analysis into newborn screening.

Main Methods:

  • Literature review of CF screening methods from 1979 to the early 21st century.
  • Analysis of IRT measurement techniques in DBS.
  • Evaluation of the combined use of IRT and CF genotype analysis.

Main Results:

  • IRT measurement in DBS has been a cornerstone of CF screening since the late 20th century.
  • Newborn screening (NBS) programs for CF expanded globally in the early 2000s.
  • Combining IRT with CF genotype analysis improved screening accuracy.

Conclusions:

  • Neonatal screening for CF has evolved significantly, improving early detection rates.
  • The combination of IRT and genetic analysis represents an advanced strategy for CF NBS.
  • Widespread adoption of these methods enhances the management and prognosis of CF patients.

Keywords:
DNAdried blood spotimmunoreactive trypsin(ogen)newborn screeningradioimmunoassay

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