Advances in Newborn Screening; Tandem mass spectrometry and next generation sequencing

David Finegold, MD [dnf@pitt.edu]

Department of Human Genetics, Pitt Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA, USA  15230

Background: Newborn screening developed as a public health program over the 1950s and 1960s. Since then, it has had a remarkable impact on early-onset treatable diseases. The modern era has seen a dramatic expansion in detection and diagnosis of a wide range of diseases, largely enabled by new technologies.

Objectives:  To review new technologies in newborn screening resulting in wider diagnostic capability and leading to improved outcomes.

Impact and conclusions:  Tandem mass spectrometry has enabled the ability to detect a wide range of disorders, including fatty acid oxidation disorders, organic acidemias, and urea cycle disorders. While each of these disorders is individually rare, as a group, they are far more common. Institution of early diagnosis and treatment has resulted in significantly less mortality and morbidity. Further studies of cost-effectiveness and cost savings in different populations remains to be completed.