Special Issue "Newborn Screening: Promoting Quality to Optimise Benefit and Reduce Harm"

Special Issue Editors

Guest Editor
Dr. Joanne Mei Website E-Mail
Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, US Centers for Disease Control and Prevention, 4770 Buford Highway, NE, Mail Stop F-19, Atlanta, GA 30341, USA
Interests: quality assurance; newborn screening; filter paper blood collection device
Guest Editor
Prof. Dr. Jim R. Bonham E-Mail
Department of Clinical Chemistry, Sheffield Children's NHS Foundation Trust, Sheffield, S10 2TH, UK
Interests: quality assurance; inherited metabolic disorders; genomics; IT supporting patients; system governance

Special Issue Information

Dear Colleagues,

In this Special Issue, we present articles that seek to integrate practical requirements to operate and manage high-throughput public health programmes, maintaining and continually improving quality in all its aspects as it bears upon the wellbeing of the families and young patients who may be affected.

The topics to be covered will include: the role of accreditation in maintaining quality in the screening laboratory; the practice and use of external quality assurance to promote a culture of quality in the laboratory; the scrutiny of assay standardisation and methodology to maintain optimum assay performance; an understanding of the factors that affect uncertainty of measurement including blood spot quality and its potential impact on screening; the challenges posed by assuring quality in the genomic era; the importance of understanding the limitations of blood spot assays when used in patient monitoring; and, perhaps most crucially, the co-ordination of national proficiency testing schemes that seek to describe and monitor key performance indicators as they assess functionality within the newborn screening pathway as a whole.

Dr. Joanne Mei
Prof. Dr. Jim R. Bonham
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • External quality assurance
  • Quality indicators
  • Quality improvement
  • Standardization
  • Dried blood spots
  • Newborn screening assays
  • Genomics
  • Specimen quality
  • Public health

Published Papers (1 paper)

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Research

Open AccessArticle
Development of National Newborn Screening Quality Indicators in the United States
Int. J. Neonatal Screen. 2019, 5(3), 34; https://doi.org/10.3390/ijns5030034 - 12 Sep 2019
Abstract
Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality [...] Read more.
Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality practices within and across the United States newborn screening system. The indicators were developed following iterative refinement, consensus building, and evaluation. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) implemented a national data repository in 2013 that captures the quality improvement metrics from each state. The QIs span the newborn screening process from collection of a dried blood spot through medical intervention for a screened condition. These data are collected and analyzed to support data-driven outcome assessments and tracking performance to improve the quality of the newborn screening system. Full article
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