Expanded Newborn Screening by Electrospray Ionization Tandem Mass Spectrometry

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

OBJECTIVE The aims of this study were to determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Germany and to assess the outcome for the patients that were diagnosed. METHODS During the period of study, 250,000 neonates in a German population were investigated for 23 inborn errors of metabolism...

chromatography–electrospray ionization tandem mass spectrometry

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.

Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102,200 newborns, five patients with propionic acidemia, two with methylmalonic acidemia, two with medium-chain acyl-CoA dehydrogenase deficiency, three with citrullinemia type II, and one with p...

Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.

In February 1999, Massachusetts introduced expanded newborn screening for 20 rare metabolic disorders by MS/MS. Medium chain acyl-CoA dehydrogenase deficiency (MCADD) was mandated, in addition to 9 previously screened disorders, while the remaining 19 were offered as an optional pilot. Approximately 98% of parents have elected to participate in the optional program. Maine added MCAD in Septembe...

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.

The introduction of tandem mass spectrometry to newborn screening has substantially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferase deficiency II detected by expanded newborn screening with tandem mass spectrometry. The neonate presented with dysmorphic facial features, structural malformations, renal...