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How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails
Author(s) -
Viall Sarah,
Calhoun Amy,
Mew Nicholas Ah,
Tarini Beth A.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61587
Subject(s) - galactosemia , newborn screening , screening test , medicine , pediatrics , test (biology) , identification (biology) , genetic testing , intensive care medicine , biology , paleontology , biochemistry , botany , galactose
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.