The call from the newborn screening laboratory: frustration in the afternoon

Newborn screening programs in the United States are evolving in concert with technologic advances in analytic chemistry and medicine. Many more disorders are being identified on dried filter paper blood spots without fundamentally altering the basic principles first put forward in the 1960s. Some disorders have been added without researchers knowing if there is a true benefit to early diagnosis and treatment; some disorders currently being detected will merit little or no follow-up in the future. The general principles underlying newborn screening are discussed, as are the individual disorders screened in most programs. The expanding and evolving impact of tandem mass spectrometry on newborn screening is also explored.