Plenary Lecture
Neonatal Mass Urine Screening for Inborn Errors of Metabolism in the Province of Quebec: An Update
Professor Christiane Auray-Blais
Service of Genetics
Department of Pediatrics
Faculty of Medicine and Health Sciences
Université de Sherbrooke
Quebec, Canada
E-mail: christiane.auray-blais@usherbrooke.ca
Abstract: The Provincial Mass Urinary Screening Program for inherited metabolic disorders was instigated nearly four decades ago in the Province of Quebec and the Nunavut region as part of a preventive genetic medicine program. It is supported financially by the Quebec Ministry of Health and Social Services. More than 2 800 000 babies have been screened for inborn errors of amino acids and organic acids. Newborn urine samples are collected on filter paper (Whatman-GE 903) by parents at 21 days of age. Means have been put in place to inform parents about the urine screening program. Voluntary compliance is good at 90%. Samples are analyzed using a multiplex thin layer chromatography technique with a sequential-four reagent staining methodology. Two unidimensional ascending solvent migrations are performed for higher resolution in 1-butanol-acetic acid-water, 13-3-5. We analyze 500 samples per day totalizing 77 000 samples/year in 2011. We screen for 25 disorders: 1) those causing severe clinical problems which necessitate immediate therapeutic intervention, such as urea cycle disorders and organic acidurias; 2) those necessitating surveillance and follow-up in metabolic disorders and transport disorders. We detected and confirmed many organic acidurias: 69 cases of methylmalonicaciduria, 5 methylcrotonylglycinurias, 2 oxoprolinurias, and 1 glutaric aciduria type I. Regarding urea cycle disorders, we confirmed 18 cases of argininosuccinic aciduria, 5 citrullinemias type I (classic), 3 citrullinemias type II, 4 hyperargininemias, and 1 case of Triple H syndrome. Concerning amino acid transport disorders, we found 150 cases of homozygous cystinuria and 1028 heterozygous cystinurias, 16 cases of Fanconi syndrome, 57 cases of Hartnup disease and 72 cases of dicarboxylicaminoacidurias. Certain inborn errors of metabolism, notably disorders of amino acid transport, such as cystinurias, Fanconi syndrome, Hartnup syndrome, dicarboxylicaminoaciduria, can be detected only by analyzing urine samples. In summary, the technical approach used is rapid, simple, reproducible and at low-cost. The use of filter paper facilitates the urine collection by parents, shipping by mail and storage of samples. Our screening program is a dynamic model that has evolved throughout the years to screen as many treatable disorders as possible before the onset of symptoms and prevented clinical problems in hundreds of children.
Brief Biography of the Speaker: Dr Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program for hereditary metabolic disorders since its inception more than 35 years ago. She is a pioneer in mass urine screening having developed the infrastructure, techniques and methodology permitting the urinary screening of 2 800 000 newborn babies in the province of Quebec for 25 disorders of amino acids and organic acids. She holds a Ph.D. in radiobiology from the Faculty of Medicine and Health Sciences at the Université de Sherbrooke and postdoctoral studies from Duke University Medical Center in North Carolina, US. She has a masters degree in Health Law from the Faculty of Law at the University de Sherbrooke and a bachelors degree in biochemistry. She is the author of 150 publications, abstracts and articles. She is a professor in the Service of genetics in the Department of Pediatrics at the Faculty of Medicine and Health Sciences at the Université de Sherbrooke and a researcher at the Clinical Research Centre Étienne-Le Bel in the Mother-Child Axis. She is the Scientific Director for the Waters-CHUS Expertise Centre in Clinical Mass Spectrometry. She is the principal investigator and co-investigator in numerous research grants. She has received awards for her involvement and expertise in screening inborn errors of metabolism in newborns in the Province of Quebec.