Newborn Screening: Promoting Quality to Optimise Benefit and Reduce Harm

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 submissions that pass pre-check are 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 250 words) can be sent to the Editorial Office for assessment.

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 1600 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.