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International Journal of Neonatal Screening
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International Journal of Neonatal Screening, Volume 9, Issue 4

December 2023 - 16 articles

Cover Story: Dutch experts on Inherited Metabolic Disease (IMD) utilized a Delphi Survey to formulate some statements concerning the Wilson and Jungner (W&J) criterion ‘Treatability’ in the context of newborn screening (NBS). Ten statements were formulated and applied. The results suggest that a transparent Delphi study with a clear consensus is a suitable method for establishing a scoring system for Treatability. However, this study also showed the complexity of eligibility assessment for NBS, indicating that the evaluation of other interrelated W&J criteria is essential as well. The study is an initial step in the process of selecting disorders for NBS, particularly if genetic screening methods are introduced as first tier and more IMDs are technically eligible for inclusion. View this paper
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Articles (16)

  • Article
  • Open Access
6 Citations
4,510 Views
11 Pages
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Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population

  • Amy Gaviglio,
  • Michael Lasarev,
  • Ruthanne Sheller,
  • Sikha Singh and
  • Mei Baker
Int. J. Neonatal Screen.2023, 9(4), 68;https://doi.org/10.3390/ijns9040068

15 December 2023

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs) successfully identifies newborns with SCID and severe T-cell lymphopenia, as intended. At the same time, NBS programs face...

Full Article
  • Article
  • Open Access
4 Citations
2,620 Views
11 Pages
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Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

  • Silje Hogner,
  • Emma Lundman,
  • Janne Strand,
  • Mari Eknes Ytre-Arne,
  • Trine Tangeraas and
  • Asbjørg Stray-Pedersen
Int. J. Neonatal Screen.2023, 9(4), 67;https://doi.org/10.3390/ijns9040067

7 December 2023

In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV). DNA is extracted from dried blood spo...

Full Article
  • Case Report
  • Open Access
14 Citations
3,522 Views
7 Pages
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A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

  • Allysa M. Dijkstra,
  • Kimber Evers-van Vliet,
  • M. Rebecca Heiner-Fokkema,
  • Frank A. J. A. Bodewes,
  • Dennis K. Bos,
  • József Zsiros,
  • Koen J. van Aerde,
  • Klaas Koop,
  • Francjan J. van Spronsen and
  • Charlotte M. A. Lubout
Int. J. Neonatal Screen.2023, 9(4), 66;https://doi.org/10.3390/ijns9040066

4 December 2023

Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as ma...

Full Article
  • Brief Report
  • Open Access
4 Citations
2,173 Views
5 Pages
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Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition

  • Anne Munck,
  • Kevin W. Southern,
  • Jared Murphy,
  • Karin M. de Winter-de Groot,
  • Silvia Gartner,
  • Bülent Karadag,
  • Nataliya Kashirskaya,
  • Barry Linnane,
  • Marijke Proesmans and
  • Dorota Sands
  • + 3 authors
Int. J. Neonatal Screen.2023, 9(4), 65;https://doi.org/10.3390/ijns9040065

21 November 2023

Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal Screening Workin...

Full Article
  • Article
  • Open Access
3 Citations
2,757 Views
10 Pages
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Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective

  • Julia Prinzi,
  • Marzia Pasquali,
  • Judith A. Hobert,
  • Rachel Palmquist,
  • Kristen N. Wong,
  • Stephanie Francis and
  • Irene De Biase
Int. J. Neonatal Screen.2023, 9(4), 64;https://doi.org/10.3390/ijns9040064

2 November 2023

Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD mani...

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  • Article
  • Open Access
10 Citations
3,136 Views
11 Pages
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NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

  • Kee Chan,
  • Zhanzhi Hu,
  • Lynn W. Bush,
  • Heidi Cope,
  • Ingrid A. Holm,
  • Stephen F. Kingsmore,
  • Kevin Wilhelm,
  • Curt Scharfe and
  • Amy Brower
Int. J. Neonatal Screen.2023, 9(4), 63;https://doi.org/10.3390/ijns9040063

30 October 2023

Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS). However, the addition of conditions to the Recommended Uniform Scre...

Full Article
  • Article
  • Open Access
2 Citations
3,893 Views
9 Pages
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Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity

  • Go Tajima,
  • Keiichi Hara,
  • Miyuki Tsumura,
  • Reiko Kagawa,
  • Fumiaki Sakura,
  • Hideo Sasai,
  • Miori Yuasa,
  • Yosuke Shigematsu and
  • Satoshi Okada
Int. J. Neonatal Screen.2023, 9(4), 62;https://doi.org/10.3390/ijns9040062

27 October 2023

Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more...

Full Article
  • Article
  • Open Access
6 Citations
3,280 Views
12 Pages
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Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany

  • Kruthika Thangavelu,
  • Kyriakos Martakis,
  • Silke Feldmann,
  • Bernhard Roth,
  • Peter Herkenrath and
  • Ruth Lang-Roth
Int. J. Neonatal Screen.2023, 9(4), 61;https://doi.org/10.3390/ijns9040061

23 October 2023

Regular reporting of quality control is important in newborn hearing screening, ensuring early diagnosis and intervention. This study reports on a population-based newborn hearing screening program in North-Rhine, Germany and a hospital-based screeni...

Full Article
  • Article
  • Open Access
1 Citations
2,045 Views
14 Pages
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Multivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges

  • Štěpán Kouřil,
  • Julie de Sousa,
  • Kamila Fačevicová,
  • Alžběta Gardlo,
  • Christoph Muehlmann,
  • Klaus Nordhausen,
  • David Friedecký and
  • Tomáš Adam
Int. J. Neonatal Screen.2023, 9(4), 60;https://doi.org/10.3390/ijns9040060

20 October 2023

Newborn screening (NBS) of inborn errors of metabolism (IEMs) is based on the reference ranges established on a healthy newborn population using quantile statistics of molar concentrations of biomarkers and their ratios. The aim of this paper is to i...

Full Article
  • Article
  • Open Access
10 Citations
4,112 Views
19 Pages
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A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

  • Isabel Ibarra-González,
  • Cynthia Fernández-Lainez,
  • Marcela Vela-Amieva,
  • Sara Guillén-López,
  • Leticia Belmont-Martínez,
  • Lizbeth López-Mejía,
  • Rosa Itzel Carrillo-Nieto and
  • Nidia Alejandra Guillén-Zaragoza
Int. J. Neonatal Screen.2023, 9(4), 59;https://doi.org/10.3390/ijns9040059

19 October 2023

Advances in an early diagnosis by expanded newborn screening (NBS) have been achieved mainly in developed countries, while populations of middle- and low-income countries have poor access, leading to disparities. Expanded NBS in Mexico is not mandato...

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Int. J. Neonatal Screen. - ISSN 2409-515X
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