Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism.

A novel, single stage high resolution mass spectrometry-based method is presented for the population level screening of inborn errors of metabolism. The approach proposed here extends traditional electrospray tandem mass spectrometry screening by introducing nanospray ionization and high resolution mass spectrometry, allowing the selective detection of more than 400 individual metabolic constituents of blood including acylcarnitines, amino acids, organic acids, fatty acids, carbohydrates, bile acids, and complex lipids. Dried blood spots were extracted using a methanolic solution of isotope labeled internal standards, and filtered extracts were electrosprayed using a fully automated chip-based nanospray ion source in both positive and negative ion mode.

Neonatal screening for congenital hypothyroidism in Hessen, Germany: efficiency of the screening program and school achievement of 129 children at an age of 8-12 years.

Status and school achievement of 129 children born in Hessen between 1988 and 1992 and notified by a repeatedly elevated concentration of TSH in neonatal screening were evaluated. Interviews of mothers, teachers and pediatricians were used to score the development and educational achievements, respectively. A total of 298,175 newborns were screened and the incidence of permanent congenital hypothyroidism (PCH) was 1: 3,313 (n = 90).