Technical aspects of neonatal screening using tandem mass spectrometry. Report from the 4th meeting of the International Society for Neonatal Screening.
Quantitative analysis of amino acids (AA) and acylcarnitines using tandem mass spectrometry is an emerging technology used to screen neonatal dried blood spot samples for disorders in the metabolism of AA, organic acids and fatty acids. This paper provides a brief review of some of the technically oriented issues which emerged at the 4th meeting of the International Society for Neonatal Screening in Stockholm, 1999. The information covers sample preparation, instrumentation, data acquistion modes, internal standards, interpretation, confounding factors and practical screening experience.
Simonsen
H
H
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark. hss@ssi.dk
Jensen
U G
UG
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D020811:Biomedical Technology; D003718:Denmark; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013058:Mass Spectrometry / Q000379:methods*; D015997:Neonatal Screening / Q000379:methods* / Q000592:standards; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D012955:Societies, Medical