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Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to

Christiane Auray-Blais1, Michel Boutin1, Pamela Lavoie1

  • 1Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CHUS, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.

International Journal of Neonatal Screening
|April 3, 2021
PubMed

Insights

The Quebec Neonatal Urine Screening Program successfully screens over 3.5 million newborns for metabolic disorders. A new mass spectrometry method enhances detection of treatable genetic diseases in infants.

Area of Science:

  • Medical Genetics
  • Biochemistry
  • Public Health

Background:

  • The Quebec Neonatal Urine Screening Program, established in 1971, screens newborns for inborn errors of metabolism.
  • Over 3.5 million infants have been screened for up to 25 metabolic disorders since 1973.
  • The program aims to detect treatable diseases before clinical symptoms arise.

Purpose of the Study:

  • To evaluate the feasibility of upgrading the screening technology to mass spectrometry.
  • To develop and validate a rapid mass spectrometry assay for neonatal urine screening.

Main Methods:

  • A 2.85-minute flow injection method using mass spectrometry was developed.
  • Normal values were established, and abnormal profiles were confirmed with second-tier tests.
  • Urine specimens from 21-day-old infants were analyzed.

Main Results:

  • The validated mass spectrometry assays demonstrated sensitivity and specificity for populational and high-risk screening.
  • The method successfully identified Triple H syndrome in an affected patient's urine, a condition not detected by standard newborn blood screening.
  • High compliance rates (~90%) were maintained throughout the program's history.

Conclusions:

  • Mass spectrometry is a feasible and effective technological upgrade for neonatal urine screening.
  • The enhanced screening method improves the detection of treatable inborn errors of metabolism, including those missed by traditional methods.
  • This advancement supports early diagnosis and intervention for genetic disorders in newborns.

Keywords:
dried urine spotsflow injectioninborn errors of metabolismmass spectrometrynewborn screening

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