Journal article
How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails
American journal of medical genetics. Part A, Vol.182(7), pp.1750-1753
07/01/2020
DOI: 10.1002/ajmg.a.61587
PMID: 32275121
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.
Details
- Title: Subtitle
- How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails
- Creators
- Sarah Viall - Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.Amy Calhoun - University of IowaNicholas Ah Mew - Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.Beth A. Tarini - Children's National
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.182(7), pp.1750-1753
- Publisher
- Wiley
- DOI
- 10.1002/ajmg.a.61587
- PMID
- 32275121
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Number of pages
- 4
- Language
- English
- Date published
- 07/01/2020
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics; Nursing
- Record Identifier
- 9984353925102771
Metrics
15 Record Views