Tandem mass spectrometry and newborn screening: pilot data and review

Abstract 

United States legislatures are debating whether to use tandem mass spectrometry to expand the roster of inherited disorders tested in newborn screening programs. The debate is hampered because published financial data comparing charges associated with late vs early diagnosis are not readily available. We provide pilot financial data comparing late diagnosis vs presumptive diagnosis and early management taken from consecutive patients with propionic acidemia diagnosed from 1995-1998 in New Hampshire. We extrapolated from these data and the incidence of treatable inborn errors of metabolism to estimate the projected yearly savings of critical care charges if expanded newborn screening were instituted. We conclude that institution of expanded screening will bring diminished morbidity and large savings in yearly chronic care and critical care charges.