Publications by authors named "Shelley Pirreca"
Children (Basel)
October 2024
Article Synopsis
- - Newborn screening (NBS) has significantly advanced public health, particularly with innovations like tandem mass spectrometry, and is expected to further evolve with genomic testing.
- - While NBS typically involves multiple low-cost confirmation tests, there's concern about the feasibility of repeating expensive genetic tests like whole-genome sequencing for follow-up.
- - The study explores how to transition NBS data into diagnostic-grade data using single-nucleotide variants (SNVs), aiming to enhance rapid diagnosis and reduce family stress when genetic issues are suspected in newborns.
