Using tandem mass spectrometry for metabolic disease screening among newborns. A report of a work group

Abstract

Increasingly, tandem mass spectrometry (MS/MS) is being used for newborn screening because this laboratory testing technology substantially increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In June 2000, the National Newborn Screening and Genetics Resource Center, in collaboration with CDC and the Health Resources and Services Administration, convened a workshop in San Antonio, Texas. Workshop participants examined programmatic concerns for health providers choosing to integrate MS/MS technology into their newborn screening activities. Representatives from approximately 50 public and private health agencies and universities participated in the workshop. The workshop participants and work group focused on laboratory methodology, decision criteria, quality assurance, diagnostic protocols, patient case management, and program evaluation for using MS/MS to analyze dried blood spots routinely collected from newborns. This work group report contains proposals for planning, operating, and evaluating MS/MS technology in newborn screening and maternal and child health programs. As a supplement to these proposals, this report contains synopses of selected presentations made at the 2000 workshop regarding integration of MS/MS technology into newborn screening programs. The proposals contained in this report should assist policymakers, program managers, and laboratorians in making informed decisions regarding the process of including MS/MS technology in their newborn screening and maternal and child health programs.