International Journal of Neonatal Screening
Overview
International Journal of Neonatal Screening is a scientific journal, published since 2015 in English. The journal's country of origin is Switzerland.
Details
Details
Abbr.
Int J Neonatal Screen
Start
2015
End
Continuing
Frequency
Quarterly, 2016-
e-ISSN
2409-515X
Country
Switzerland
Language
English
Metrics
Metrics
h-index / Ranks: 11346
25
SJR / Ranks: 2431
1313
CiteScore / Ranks: 5069
5.00
Recent Articles
1.
Cazzorla C, Gragnaniello V, Gaiga G, Gueraldi D, Puma A, Loro C, et al.
Int J Neonatal Screen
. 2025 Feb;
11(1).
PMID: 39982348
In the last few decades, neonatal screening (NBS) has expanded to include lysosomal storage diseases, allowing for the early identification of both symptomatic and asymptomatic cases. However, neonatal diagnosis of...
2.
Schielen P, Webster D, Loeber J, Bonham J
Int J Neonatal Screen
. 2025 Feb;
11(1).
PMID: 39982347
The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism,...
3.
Shook L, Haygood D, Quinn C
Int J Neonatal Screen
. 2025 Feb;
11(1).
PMID: 39982346
Hemoglobinopathies are commonly detected by newborn screening (NBS). One of the most difficult to accurately diagnose is alpha-thalassemia, which is indicated by the presence of hemoglobin (Hb) Barts on NBS....
4.
De Felipe B, Delgado-Pecellin C, Lopez-Lobato M, Olbrich P, Blanco-Lobo P, Marquez-Fernandez J, et al.
Int J Neonatal Screen
. 2025 Feb;
11(1).
PMID: 39982345
Spinal muscular atrophy (SMA) and severe T- and/or B-cell lymphopenias (STBCL) in the form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia (XLA) are rare but potentially fatal pathologies. In...
5.
Rodrigues D, Marcao A, Lopes L, Ventura A, Faria T, Ferrao A, et al.
Int J Neonatal Screen
. 2025 Feb;
11(1).
PMID: 39982344
The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle...
6.
Drole Torkar A, Klinc A, Remec Z, Rankovic B, Bartolj K, Bertok S, et al.
Int J Neonatal Screen
. 2025 Feb;
11(1).
PMID: 39982343
Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal...
7.
Huang P, Gu Q, Zhu X, Haq I, Li L, Hu X, et al.
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846594
Background: This study aimed to enhance the scope of neonatal congenital heart disease (CHD) screening by evaluating the effectiveness of training personnel in CHD screening using the "dual-index" method, combining...
8.
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
Berzal-Serrano A, Garcia-Bohorquez B, Aller E, Jaijo T, Pitarch-Castellano I, Rausell D, et al.
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846593
Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 () gene in 95% of patients. A timely diagnosis via...
9.
Klippel C, Park J, Sandin S, Winstone T, Chen X, Orton D, et al.
Int J Neonatal Screen
. 2025 Jan;
11(1).
PMID: 39846592
For many genetic disorders, there are no specific metabolic biomarkers nor analytical methods suitable for newborn population screening, even where highly effective preemptive treatments are available. The direct measurement of...
10.
Klapwijk J, Gitsels-van der Wal J, Martin L, Verschoof-Puite R, Elsinghorst E, Henneman L
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846591
Newborn bloodspot screening (NBS) aims to detect treatable disorders in newborns to offer early interventions. According to the official Dutch national NBS guidance, parents in the Netherlands should be informed...