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International Journal of Neonatal Screening, Volume 11, Issue 4

December 2025 - 19 articles

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Articles (19)

  • Article
  • Open Access
157 Views
22 Pages

The goal of newborn screening (NBS) has remained the same despite its significant expansion from its inception as a public health initiative. This goal is to identify infants that are at risk for a set list of conditions and to implement a care plan...

  • Brief Report
  • Open Access
153 Views
10 Pages

Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele

  • Christopher Connolly,
  • Rachel Fisher,
  • Chen Yang,
  • Susan Schelley,
  • Bryce A. Mendelsohn,
  • Chung Lee and
  • Ayesha Ahmad

Accurate variant classification is crucial for newborn screening (NBS) to prevent missed diagnoses or unnecessary interventions. The IDUA gene variant denoted as c.250G>A (p.Gly84Ser) has been identified in individuals with positive NBS for Mucopo...

  • Review
  • Open Access
416 Views
15 Pages

Celebrating 50 Years of Nationwide Newborn Screening in Hungary—Review, Current Situation, and Future Directions

  • Péter Monostori,
  • Ildikó Szatmári,
  • Ákos Baráth,
  • János Bókay,
  • Marianna Csenki,
  • Zsolt Galla,
  • Balázs Gellén,
  • Nóra Grecsó,
  • Eszter Gyüre and
  • Zita Halász
  • + 14 authors

Newborn screening (NBS), one of the most important public health care prevention programs, aims at the early identification of asymptomatic newborns at increased risk for inherited disorders, facilitating timely intervention to reduce morbidity and m...

  • Article
  • Open Access
361 Views
12 Pages

This long-term observational study aimed to define the spectrum of genetic variation in a congenital hypothyroidism (CH) cohort and investigate the correlations between specific genotypes and clinical phenotypes, including treatment requirements and...

  • Article
  • Open Access
414 Views
13 Pages

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

  • 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

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 prognosticati...

  • Systematic Review
  • Open Access
505 Views
18 Pages

Methodological and Procedural Considerations for Developing Decision Analytic Models to Assess the Health Economic Impacts of Newborn Bloodspot Screening: A Systematic Methodological Review

  • Jim Chilcott,
  • Alice Bessey,
  • James R. Bonham,
  • Iván Castilla-Rodríguez,
  • Sarah Davis,
  • David Elliman,
  • Sara Hunt,
  • Chris Hyde,
  • Silvia Lombardo and
  • Jason Madan
  • + 10 authors

This methodological review identifies challenges in the development of health economic evaluations of newborn bloodspot screening (NBS) interventions and their consideration in NBS policy making. A systematic review of health economics methodological...

  • Article
  • Open Access
338 Views
13 Pages

Challenges Faced by Healthcare Professionals in Screening Newborns for Congenital Heart Defects in Pakistan

  • Ijaz ul Haq,
  • Muhammad Imran Khan,
  • Amir Muhammad,
  • Majid Ali,
  • Xiaojing Hu and
  • Guo-Ying Huang

Early and timely screening for congenital heart disease (CHD) is one of the key challenges for healthcare professionals (HPs). This study aimed to identify barriers to the screening of CHD among healthcare professionals in Khyber Pakhtunkhwa, Pakista...

  • Article
  • Open Access
352 Views
10 Pages

Next-Generation Sequencing for Cystic Fibrosis: Florida Newborn Screening Experience

  • Deanna M. Green,
  • Jean Polasky,
  • Mark Weatherly,
  • Heather Stalker,
  • Colleen Blanchard,
  • Cheryl Kushner,
  • Marisa Couluris,
  • Patricia Ryland,
  • Iruvanti Sunitha and
  • Joseph Fong
  • + 3 authors

Cystic fibrosis (CF) is an autosomal recessive genetic condition affecting nearly 1 in 4000 newborns. Early diagnosis and treatment have been shown to improve the care of individuals with CF, which is enhanced through newborn screening (NBS). The sta...

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Int. J. Neonatal Screen. - ISSN 2409-515XCreative Common CC BY license