Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices

Author:

Alonso-Fernández José Ramón

Abstract

The personal experience of 36 years in charge of the Newborn Screening Laboratory in Galicia and the consequences of the recent advancement of sampling from 3 days to 24 hours of the newborn's life are reviewed. The implication in the results of the assay of reducers in urine with the Mandelin reagent and its alternatives is commented. The implication in the effects of TSH in blood and the possible ways of dealing with the situation. Since 1978, the Newborn Screening Program in Galicia has maintained the urine sample on paper (Berry-Woolf specimen) and blood on paper (Guthrie specimen), so the possibilities of the urine sample are discussed, which are not being taken advantage of. The ignorance of LI Woolf's time at GOSH, where what brought us here was gestated, and his recommendations for preparing the diet, to which due attention was not paid. The contributions of the in vitro diagnostic industry, the concepts associated with Clinical Chemistry, and its professionals' work are discussed.<strong>Keyword</strong>Newborn screening; urine sample on paper; LI Woolf; in vitro diagnostic industry

Publisher

LIDSEN Publishing Inc

Subject

Cell Biology,Genetics,Molecular Biology,Molecular Medicine

Reference45 articles.

1. Alonso-Fernández JR, Fraga JM, Barreiro Mosquera JL. Un método sencillo para la detección de azúcares y reductores en orina. Utilidad en el cribado de errores metabólicos. Proceedings of the III Reunión Nacional de la Sociedad Española de Química_Clínica; 1979; La_Manga_deL_Mar_Menor, Murcia, España.

2. Alonso-Fernández JR, Quintas R, Peña J, Fraga JM. New method for the detection, separation, identification and semiquantitative assesmente of sugars of metabolic interest in urine samples impregnated on paper.Proceedings of the International Symposium on Inborn Errors of Metabolism in Humans; 1980 September; Interlaken, Switzerland.

3. Alonso-Fernandez JR, Parrado C, Boveda MD, Peña J, Fraga JM. Inborn errors of metabolism of carbohydrates: A new method for the detection and identification of sugars in urine and blood from samples impregnated on paper. In: Neonatal screening. Amsterdam: Elsevier; 1982. pp. 256-257.

4. Alonso-Fernández JR, Castiñeiras DE, Parrado C, Fraga JM, Peña J. Galactose newborn screening: Test for reducing sugars in urine samples impregnated on paper. In: Advances in neonatal screening. Amsterdam: Elsevier; 1987. pp. 233-238.

5. Alonso-Fernández JR, Carpinteiro MI, Baleato J, Fidalgo J. Continuous evaporative TLC with small eluent volumes for saccharides and oligosaccharides of clinical interest. Proceedings of the VI Reunión Cientifica de la SECyTA; 2006 November 8-10; Vigo, Spain.

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