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
11.
Khodadadi A, Nanbedeh S, Joodaki M, Therrell B, Gilany K
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846590
Screening for inborn metabolic disorders (IMDs) in newborns is an important way to prevent serious metabolic and developmental difficulties that can result in lasting disabilities or even death. Electrospray ionization...
12.
Reynolds E, Potter S, Scott S, Bailey D
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846589
Newborn screening (NBS) presents an opportunity to identify a subset of babies at birth who are at risk for developmental delays and could benefit from a range of developmental services....
13.
Therrell B, Padilla C, Abadingo M, Adhikari S, Aung T, Aye T, et al.
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846588
Approximately half of all births globally occur in the Asia Pacific Region. Concerted efforts to support local activities aimed at developing national newborn screening (NBS) have been ongoing for almost...
14.
Veldman A, Sikkema-Raddatz B, Derks T, van Karnebeek C, Kiewiet M, Mulder M, et al.
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846587
The biomarker-based Dutch Newborn Screening (NBS) panel (as of 2024) comprises 19 inherited metabolic disorders (IMDs). With the use of next-generation sequencing (NGS) as a first-tier screen, NBS could expand...
15.
Zaunseder E, Teinert J, Boy N, Garbade S, Haupt S, Feyh P, et al.
Int J Neonatal Screen
. 2024 Dec;
10(4).
PMID: 39728403
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disease increasingly included in newborn screening (NBS) programs worldwide. Because of the broad biochemical spectrum of individuals with GA1 and...
16.
Kuypers A, Bouva M, Loeber J, Boelen A, Dekkers E, Petritis K, et al.
Int J Neonatal Screen
. 2024 Dec;
10(4).
PMID: 39728402
In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN)...
17.
Pickens C, Sah S, Chandrappa R, Isenberg S, Courtney E, Lim T, et al.
Int J Neonatal Screen
. 2024 Dec;
10(4).
PMID: 39728401
Parenteral nutrition (PN) is a nutrient solution administered intravenously (IV) to premature babies. PN causes elevations of some amino acids in blood samples that are also biomarkers used in newborn...
18.
El Janahi S, Filali M, Boudar Z, Akhattab A, Jaoudi R, Al Idrissi N, et al.
Int J Neonatal Screen
. 2024 Dec;
10(4).
PMID: 39728400
Methods: A retrospective investigation was carried out to examine the outcomes of NBS in Casablanca, Morocco. A total of 5511 newborn blood samples were collected via heel-prick sampling and tested...
19.
Gragnaniello V, Cazzorla C, Gueraldi D, Loro C, Porcu E, Salviati L, et al.
Int J Neonatal Screen
. 2024 Dec;
10(4).
PMID: 39728399
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often...
20.
Ye L, Zhang Y, Feng J, Huang C, Wang X, Han L, et al.
Int J Neonatal Screen
. 2024 Dec;
10(4).
PMID: 39728398
Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests...