How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails. Issue 7 (10th April 2020)

• Record Type: Journal Article
• Authors: Viall, Sarah; Calhoun, Amy; Mew, Nicholas Ah; Tarini, Beth A.
• Is Part Of: American journal of medical genetics. Volume 182:Issue 7(2020)
• Page Start: 1750
• Page End: 1753
• Publication Date: 2020-04-10
• Subjects: galactosemia -- newborn screening -- public health -- system; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61587
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Newborn screening (NBS) is a well‐established state‐run public health program which has targeted the early identification of treatable diseases like classic galactosemia (CG) for over a decade. We describe the case of a symptomatic newborn with CG and an abnormal screen report, including positive DNA‐based test, who still managed to fall through the cracks in a sub‐optimally functioning NBS program, despite decades of screening experience. While much attention is paid to testing technology, this case illustrates basic minimum requirements a newborn screening program must fulfill to reliably identify and treat all affected individuals including minimum reporting requirements, case surveillance and a dedicated short‐term follow‐up program. In newborn screening, success is systematic.