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Next Generation Sequencing in Newborn Screening
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Next Generation Sequencing in Newborn Screening

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (25 November 2018) | Viewed by 8912

Special Issue Editors

Dr. Peter C. J. I. Schielen

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Guest Editor
Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands
Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Edwin Naylor

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Guest Editor
Consultant in Newborn Screening & Biochemical and Molecular Genetics, Department of Pediatrics (Genetics), Medical University of South Carolina, Charleston, SC, USA
Interests: newborn screening for duchenne and congenital muscular dystrophy including DNA confirmation using targeted NGS; prenatal and newborn screening for lead and other heavy metals (inductively coupled plasma-mass spectrometry); use of tandem mass spectrometry for newborn screening; development of 2nd-tier DNA confirmation for primary newborn screening
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, next generation sequencing (NGS) has secured a place in newborn screening. Early papers still described concepts, which especially invited a bio-ethical discussion to deliberate on the pros and cons of the introduction of NGS, be it targeted or as a whole genome or exome approach. That did not stop the technical and epidemiological developments. Thus, these days, NGS technology is actually applied within newborn screening, almost exclusively in a second TIER setting, but this may change very soon. Developments concerning NGS in NBS have been quite astounding and we feel that it is time to determine where we are in this development, what is already in place and what yet needs to be done.

This Special Issue on NGS in Newborn screening invites papers on:

  • Application of NGS in NBS in current practice

  • Proof of principle applications and retrospective studies

  • Prospective pilot studies

  • Application in current routine practice, both first TIER and second TIER

  • Contributions concerning medical ethical issues of NGS in NBS

  • QC QA issues/proficiency samples in NGS

Dr. Peter C.J.I. Schielen
Guest Editor

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 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 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.

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Published Papers (1 paper)

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217 KiB  
Review
Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs
by Peter C. J. I. Schielen, Evelien A. Kemper and Michael H. Gelb
Int. J. Neonatal Screen. 2017, 3(2), 6; https://doi.org/10.3390/ijns3020006 - 29 Mar 2017
Cited by 61 | Viewed by 8203
Abstract
Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give [...] Read more.
Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide. Full article
(This article belongs to the Special Issue Next Generation Sequencing in Newborn Screening)
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