Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry
Open Access
- 20 March 2021
- journal article
- research article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 7 (1), 18
- https://doi.org/10.3390/ijns7010018
Abstract
The Quebec Neonatal Urine Screening Program was initiated in 1971 with overall screening inception of newborns in 1973. Forty-seven years later, over 3.5 million babies have been screened for up to 25 inborn errors of metabolism divided into two groups: (1) urea cycle disorders and organic acidurias; and (2) disorders of amino acid metabolism and transport. The main goal of this preventive genetic medicine program is the detection of treatable diseases before the onset of clinical symptoms. Urine specimens from 21-day-old babies are collected and dried on filter paper by parents at home. The participation is voluntary with a high compliance rate over the years (~90%). Specimens are analyzed by thin layer chromatography (TLC). The main objective of this evaluative research project was to assess the feasibility of a technological upgrade towards mass spectrometry. A 2.85-min flow injection method was devised, normal values established, and abnormal profiles confirmed using second-tier tests. The validated assays are sensitive, specific, and suitable for populational screening, as well as for high-risk screening laboratories. Triple H syndrome, which would not be detected in newborns by blood screening at two days of age was found to be positive in the urine of an affected patient.Keywords
Funding Information
- R. Howard Webster Foundation (No grant number applicable)
- Fondation J.A. DeSève (No grant number applicable, No grant number applicable, No grant number applicable, No grant number applicable, No grant number applicable, No grant number applicable)
This publication has 33 references indexed in Scilit:
- Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programmeMolecular Genetics and Metabolism, 2011
- Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern SaskatchewanJournal of Inherited Metabolic Disease, 2010
- Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15Journal of Medical Genetics, 2008
- Community Genetics and Dignity in Diversity in the Quebec Network of Genetic MedicinePublic Health Genomics, 2006
- Treatment Complications in Children Diagnosed With Neuroblastoma During a Screening ProgramJournal of Clinical Oncology, 2006
- Health and Economic Benefits of Well-Designed Evaluations: Some Lessons From Evaluating Neuroblastoma ScreeningJNCI Journal of the National Cancer Institute, 2005
- Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from NewbornsClinical Chemistry, 2003
- Screening of Infants and Mortality Due to NeuroblastomaThe New England Journal of Medicine, 2002
- A population-based study of the usefulness of screening for neuroblastomaThe Lancet, 1996
- Newborn urine screening experience with over one million infants in the Quebec Network of Genetic MedicineJournal of Inherited Metabolic Disease, 1987