A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan

W D Lin; J Y Wu; C C Lai; F J Tsai; C H Tsai; S P Lin; D M Niu

A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan

Acta Paediatr Taiwan. 2001 Jul-Aug;42(4):224-30.

Authors

W D Lin¹, J Y Wu, C C Lai, F J Tsai, C H Tsai, S P Lin, D M Niu

Affiliation

¹ Department of Medical Genetics and Medical Research, China Medical College Hospital, No. 2, Yuh-Der Road, Taichung 404, Taiwan.

PMID: 11550411

Abstract

Amino acid and acylcarnitine profiling of dry blood specimens using electrospray tandem mass spectrometry (ESI/MS/MS) has been recognized as an useful tool for screening inherited metabolic defects of newborns. In this pilot study, we introduced this technology to screen 2100 newborns to establish the normal amino acid and acylcarnitine level. Based on the upper cutoff level (average + 4*SD), twenty-nine samples studied were considered as abnormal. After follow-up samples and urine GC/MS analysis, only two were confirmed as true inborn errors. One was identified as hyperphenylalaninemia, and the other as isovaleric acidemia. The positive rate of true inborn metabolic error was 0.09% (2/2100), and the false positive rate 1.28% (29/2100) in this study. ESI/MS/MS is proven to be an adequate tool for inborn metabolic error screening.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Metabolism, Inborn Errors / diagnosis*
Amino Acid Metabolism, Inborn Errors / epidemiology
Cost-Benefit Analysis
False Positive Reactions
Female
Humans
Incidence
Infant, Newborn
Male
Neonatal Screening / economics
Neonatal Screening / methods*
Pilot Projects
Risk Factors
Sensitivity and Specificity
Spectrometry, Mass, Electrospray Ionization / methods*
Taiwan / epidemiology