Special Issue "Selected Papers from 10th ISNS International Symposium/11th Asia Pacific Regional Meeting"

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

Deadline for manuscript submissions: closed (1 July 2020).

Special Issue Editors

Dr. Veronica Wiley

Guest Editor
The NSW Newborn Screening Programme, The Children’s Hospital at Westmead, Westmead, NSW 2145, Australia
Special Issues and Collections in MDPI journals
Dr. Dianne Webster

Guest Editor
National Newborn Metabolic Screening programme, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand; Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening (programme audit, metrics, policy, definitions, guidelines, quality)
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

The International Society for Neonatal Screening (ISNS) has regularly convened at both international meetings and their various chapters. One such chapter is the Asia Pacific region. This year, the 10th ISNS International Symposium and the 11th Asia Pacific Regional Meeting will be combined and held in Hangzhou, China, on 19–22 September. The chosen theme for the meeting “Screening Pathways through China, the Asia Pacific Region, and the World” aims to elucidate the additional requirements of population screening beyond analytical aspects alone, and includes sessions on pre-analytical, analytical, and post-analytical requirements. The meeting will incorporate a one-day session on Monitoring and Evaluation of Newborn Screening Programs. Following the opening ceremony, we assess the current status of screening worldwide, with presentations from each regional chapter. There are invited presentations on newborn screening systems and pathways to provide the groundwork for sessions assessing starting programs, including increasing coverage of various disorders, as well as pathways incorporating molecular technologies. Expansion outside the laboratory includes assessing babies at the bedside and point of care testing for critical congenital heart disease, for which coverage has been increasing, especially in the Asia Pacific region. As the possibilities for screening expand, it is timely to look into the future, gazing into the crystal ball of what might be.

The editorial board of the International Journal of Neonatal Screening (IJNS) is pleased to announce that the ISNS Conference Paper Prize competition, first held at the ISNS-Bratislava-meeting in 2018, will have its second edition at this 10th ISNS International meeting. The 10th International ISNS Conference Paper Prize will go to the author or authors who are able to transform a non-invited oral or poster presentation into a manuscript for the IJNS. The deadline for submissions will be July 1, 2020. To select the winning paper, the eligible submissions will be reviewed by a joint committee of members of the editorial board of the IJNS headed by its Editor-in-Chief, Dr Ralph Fingerhut and the ISNS Hangzhou meeting organizing committee. The winner will be announced in the IJNS and after peer review, all contributions will be published in a special issue of IJNS. The price is 250 dollar (225 euro) and a free publication in IJNS. We will encourage the winner to visit a future ISNS conference as she or he could receive the award personally there.

Dr. J.Gerard Loeber
Dr. Veronica Wiley
Dr. Dianne Webster
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.

Published Papers (3 papers)

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Open AccessArticle
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency
Int. J. Neonatal Screen. 2020, 6(3), 58; https://doi.org/10.3390/ijns6030058 - 28 Jul 2020
Abstract
Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries. Furthermore, newborn screening can lead to diagnosis of [...] Read more.
Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries. Furthermore, newborn screening can lead to diagnosis of maternal diseases such as vitamin B12 deficiency or 3-MethylcrotonylCoA-carboxylase deficiency (3MCC). NS became mandatory in Sicily in December 2017. Here we report NS data collected between December 2017 and April 2020. Our results show that tandem mass spectrometry is a powerful tool for discovery of underestimated disease in newborns and their family members. Our panel included short chain acyl-CoA dehydrogenase deficiency (SCADD). Here, we report that results of our investigation led to reassessment of SCADD prevalence in our population. The infant and adult patients diagnosed in our study had previously not shown overt symptoms. Full article
Open AccessArticle
Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service
Int. J. Neonatal Screen. 2019, 5(4), 40; https://doi.org/10.3390/ijns5040040 - 05 Nov 2019
Cited by 2
Abstract
Next generation DNA sequencing (NGS) has the potential to improve the diagnostic and prognostic utility of newborn screening programmes. This study assesses the feasibility of automating NGS on dried blood spot (DBS) DNA in a United Kingdom National Health Service (UK NHS) laboratory. [...] Read more.
Next generation DNA sequencing (NGS) has the potential to improve the diagnostic and prognostic utility of newborn screening programmes. This study assesses the feasibility of automating NGS on dried blood spot (DBS) DNA in a United Kingdom National Health Service (UK NHS) laboratory. An NGS panel targeting the entire coding sequence of five genes relevant to disorders currently screened for in newborns in the UK was validated on DBS DNA. An automated process for DNA extraction, NGS and bioinformatics analysis was developed. The process was tested on DBS to determine feasibility, turnaround time and cost. The analytical sensitivity of the assay was 100% and analytical specificity was 99.96%, with a mean 99.5% concordance of variant calls between DBS and venous blood samples in regions with ≥30× coverage (96.8% across all regions; all variant calls were single nucleotide variants (SNVs), with indel performance not assessed). The pipeline enabled processing of up to 1000 samples a week with a turnaround time of four days from receipt of sample to reporting. This study concluded that it is feasible to automate targeted NGS on routine DBS samples in a UK NHS laboratory setting, but it may not currently be cost effective as a first line test. Full article
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Open AccessMeeting Report
Screening Pathways through China, the Asia Pacific Region, the World
Int. J. Neonatal Screen. 2019, 5(3), 26; https://doi.org/10.3390/ijns5030026 - 22 Aug 2019
Cited by 1
Abstract
The International Society for Neonatal Screening (ISNS) has met regularly at both international meetings and those of the various chapters [...] Full article
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