Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine

J Inherit Metab Dis. 1988;11(1):45-55. doi: 10.1007/BF01800056.


We screened urine for chemical individuality in over 1 million newborn infants, by various chromatographic (thin-layer), chemical and spectrophotometric methods, 12 procedures in all. The programme is part of the Quebec Network of Genetic Medicine. Voluntary urine screening began in 1971 and has evolved with changes in choice of tests and times of sample collection. Urine samples were collected on filter paper at either 5, 14 or 21 days after birth; results were best with the 21-day test. Compliance is over 94% with the latter and over 98% with requests for repeat samples. Screening is centralized in one laboratory; follow-up diagnosis, counselling and management are done at four regional centres. Incidence of phenotypes ranged from 1:4300 live births (for expressed cystinuria alleles) to 1 per million (for hyperargininaemia). Over 20 inherited Mendelian disorders were identified. 30 patients required aggressive medical management. We show how this programme can be used for neuroblastoma screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromatography, Thin Layer
  • Humans
  • Infant, Newborn / urine*
  • Mass Screening*
  • Metabolism, Inborn Errors / epidemiology*
  • Quebec
  • Spectrophotometry