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Selected Papers from 13th ISNS European Regional Meeting—Celebrating 10 Years...
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Selected Papers from 13th ISNS European Regional Meeting—Celebrating 10 Years of IJNS

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

Deadline for manuscript submissions: 31 December 2025 | Viewed by 3684

Special Issue Editors

Kate Hall

E-Mail
Guest Editor
Chair, Local Organising Committee for 13th ISNS-European Regional Meeting, Luxembourg, Luxembourg
Interests: newborn screening
Special Issues, Collections and Topics in MDPI journals
Dr. Peter C. J. I. Schielen

E-Mail Website
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
Dr. Ralph Fingerhut

E-Mail Website
Guest Editor
Newborn Screening and Metabolic Laboratory, Synlab MVZ Weiden, D-92637 Weiden, Germany
Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Only two months now and the 13th ISNS European Regional meeting will commence in Luxembourg. In keeping with previous ISNS conference, presenters of posters and presentations are encouraged to develop their conference contributions into a manuscript, that can be submitted under the flag of this special issue, that is dedicated to solidifying the scientific results of this 13th European regional meeting. Authors that would like to receive a 20% discount (320 CHF) on the Article Processing fees should visit the ISNS/IJNS booth at the conference and collect their free 20% discount voucher. As we will also celebrate 10 years of International Journal of Neonatal Screening, in this special Issue also other manuscripts that have not been presented at the meeting will be considered.

Kate Hall
Dr. Peter C. J. I. Schielen
Dr. Ralph Fingerhut
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 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.

Keywords

  • genetic testing in newborn screening
  • cystic fibrosis
  • SMA
  • newborn screening in Europe
  • ethical, legal and social implications of newborn screening
  • CCHD
  • newborn hearing screening
  • follow up

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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13 pages, 4376 KB  
Article
Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
by Chloe Miu Mak, Timothy Yiu Cheong Ho, Man Kwan Yip, Felicite Enyu Song, Raymond Chiu Mo Tam, Leanne Wing Ying Yu, Ann Anhong Ke, Eric Chun Yiu Law, Toby Chun Hei Chan and Matthew Chun Wing Yeung
Int. J. Neonatal Screen. 2025, 11(4), 97; https://doi.org/10.3390/ijns11040097 - 19 Oct 2025
Viewed by 254
Abstract
Newborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) faces challenges. Accurate and precise SMN1 and SMN2 copy number determination, confirmed by two orthogonal methods, are vital for SMA prognostication and treatment. Single SMN1 copy detection also enables the [...] Read more.
Newborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) faces challenges. Accurate and precise SMN1 and SMN2 copy number determination, confirmed by two orthogonal methods, are vital for SMA prognostication and treatment. Single SMN1 copy detection also enables the further feasibility to screen for compound heterozygotes. In SCID, low-level T-cell receptor excision circle (TREC) quantification by quantitative PCR is imprecise, necessitating replicates for reliable results. An assay with enhanced accuracy, precision, and high throughput is warranted for NBS SMA and SCID. False positive of SMN1 deletions due to allele dropout are also a potential pitfall in PCR-based methods. We evaluated a first-tier fully automated quadruplex droplet digital PCR (ddPCR) assay detecting SMN1, SMN2, TREC, and RPP30 using dried blood spots together with a second-tier Sanger sequencing to exclude SMN1 allele dropout. Five proficiency test samples and six patient samples with known SMN1 and SMN2 copy numbers confirmed by multiplex ligation-dependent probe amplification were used for accuracy evaluation with full concordance. The ddPCR assay showed high precision for SMN1 and SMN2 (<7% coefficient of variation (CV) for ≥0 copy) and TREC (14.6% CV at 37 copies/µL blood). Second-tier Sanger sequencing identified all SMA cases with homozygous deletions. Accuracy for TREC classification was concordant with 10 proficiency samples. The reference interval of TREC concentration was established for newborns ≥ 34 weeks (n = 1812) and the 2.5th percentile was 57 copies/µL blood. A two-tiered approach with fully automated quadruplex ddPCR and Sanger sequencing delivers accurate and precise quantitation for NBS SMA and SCID, enabling early treatment and counseling. Full article
(This article belongs to the Special Issue Selected Papers from 13th ISNS European Regional Meeting—Celebrating 10 Years of IJNS)
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81 pages, 526 KB  
Conference Report
Oral and Poster Abstracts of the 13th ISNS European Regional Meeting
by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
Int. J. Neonatal Screen. 2025, 11(1), 21; https://doi.org/10.3390/ijns11010021 - 10 Mar 2025
Cited by 1 | Viewed by 2861 | Correction
Abstract
This Abstract Book contains abstracts of oral and poster presentations of the 13th ISNS European Regional Meeting in Luxembourg, held from 23 to 26 March 2025. Full article
(This article belongs to the Special Issue Selected Papers from 13th ISNS European Regional Meeting—Celebrating 10 Years of IJNS)
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