Development of Strategies to Decrease False Positive Results in Newborn Screening
Open Access
- 2 November 2020
- journal article
- review article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 6 (4), 84
- https://doi.org/10.3390/ijns6040084
Abstract
The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants. New technological developments have enabled the implementation of testing panel covering over 50 disorders. Consequently, the increment of false positive rate has led to a high number of healthy infants recalled for expensive and often invasive additional testing, opening a debate about the harm-benefit ratio of the expanded newborn screening. The false-positive rate represents a challenge for healthcare providers working in NBS systems. Here, we give an overview on the most commonly used strategies for decreasing the adverse effects due to inconclusive screening results. The focus is on NBS performance improvement through the implementation of analytical methods, the application of new and more informative biomarkers, and by using post-analytical interpretive tools. These strategies, used as part of the NBS process, can to enhance the positive predictive value of the test and reduce the parental anxiety and healthcare costs related to the unnecessary tests and procedures.Keywords
This publication has 87 references indexed in Scilit:
- Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease PatientsPLOS ONE, 2013
- Analysis of Lyso-Globotriaosylsphingosine in Dried Blood SpotsAnnals of Laboratory Medicine, 2013
- Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography–Tandem Mass SpectrometryClinical Chemistry, 2013
- Psychological Effects of False-Positive Results in Expanded Newborn Screening in ChinaPLOS ONE, 2012
- The case for newborn screening for severe combined immunodeficiency and related disordersAnnals of the New York Academy of Sciences, 2011
- Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic responseBlood, 2011
- Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is EssentialJIMD Reports, 2011
- Newborn Screening for Krabbe Disease: the New York State ModelPediatric Neurology, 2009
- Progress in expanded newborn screening for metabolic conditions by LC‐MS/MS in Tuscany: Update on methods to reduce false testsJournal of Inherited Metabolic Disease, 2008
- Elevated globotriaosylsphingosine is a hallmark of Fabry diseaseProceedings of the National Academy of Sciences of the United States of America, 2008