How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails

Autor:	Sarah Viall, Amy Calhoun, Beth A Tarini, Nicholas Ah Mew
Rok vydání:	2020
Předmět:	0301 basic medicine Pediatrics medicine.medical_specialty Newborn screening business.industry Public health Galactosemia 030105 genetics & heredity medicine.disease Test (assessment) 03 medical and health sciences 030104 developmental biology Genetics medicine business Genetics (clinical)
Zdroj:	American Journal of Medical Genetics Part A. 182:1750-1753
ISSN:	1552-4833 1552-4825
DOI:	10.1002/ajmg.a.61587
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4523257c292d98fd0d2d62c2faddc446 https://doi.org/10.1002/ajmg.a.61587 Zobrazit plný text záznamu Plný text