Linked Life Data

12971427

Source:http://linkedlifedata.com/resource/pubmed/id/12971427

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2003-9-15
pubmed:abstractText
The introduction of our voluntary mass screening programme in 1971, in the province of Quebec, has permitted us to detect different inborn errors of metabolism in the newborn population using a thin-layer chromatographic (TLC) technique with sequential use of different sprays on the same plate. Abnormalities in amino acids and organic acids are detected in urine filter paper specimens of 21-day-old babies. Initial parental compliance is 90% and climbs to 99.25% for repeat sample requests. Screening is centralized in one laboratory, while diagnosis, counselling, management and follow-up are done in four regional centres. Over 25 inherited Mendelian disorders can be identified. There have been certain modifications in our programme throughout the years in order to increase efficiency, screen for a larger number of disorders, improve the quality of the collection of the urine filter paper samples, increase parental compliance and better manage the data bank. However, one goal has remained a priority: early prevention of genetic diseases. We present an overall view of our screening programme with an add-on technique to detect different organic acidurias, our recent statistics and the modifications implemented over the years.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
393-402
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Newborn urine screening programme in the province of Quebec: an update of 30 years' experience.
pubmed:affiliation
Mass Urinary Screening Program, Genetic Service, Centre hospitalier universitaire de Sherbrooke, hôpital Fleurimont, 3 001, 12e avenue Nord, Sherbrooke, Quebec, Canada, J1H 5N4. Christiane.Auray-Blais@USherbrooke.ca
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Evaluation Studies