Newborn Screening: Current Status
Overview
Authors
Affiliations
Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. Newborn screening programs are state-run, and decisions are left to the individual states regarding the conditions to be screened for, the mechanism for confirmatory testing, follow-up care, and financing of the programs. Laboratory advances in tandem mass spectrometry make it possible to screen newborns for many rare inborn errors of metabolism. This raises many policy issues including screening's cost-effectiveness, ethics, quality, and oversight.
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R Cochrane Database Syst Rev. 2020; 6:CD012272.
PMID: 32567677 PMC: 7387091. DOI: 10.1002/14651858.CD012272.pub3.
Rapid Solution-Phase Hydrogen/Deuterium Exchange for Metabolite Compound Identification.
Majuta S, Li C, Jayasundara K, Kiani Karanji A, Attanayake K, Ranganathan N J Am Soc Mass Spectrom. 2019; 30(6):1102-1114.
PMID: 30980382 DOI: 10.1007/s13361-019-02163-0.
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R Cochrane Database Syst Rev. 2017; 12:CD012272.
PMID: 29274129 PMC: 6485983. DOI: 10.1002/14651858.CD012272.pub2.
Policy Making in Newborn Screening Needs a Structured and Transparent Approach.
Jansen M, Lister K, van Kranen H, Cornel M Front Public Health. 2017; 5:53.
PMID: 28377917 PMC: 5359248. DOI: 10.3389/fpubh.2017.00053.
Biomarker Discovery and Translation in Metabolomics.
Gowda G, Raftery D Curr Metabolomics. 2016; 1(3):227-240.
PMID: 27134822 PMC: 4848463. DOI: 10.2174/2213235X113019990005.