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International Journal of Neonatal Screening
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International Journal of Neonatal Screening, Volume 11, Issue 1

March 2025 - 22 articles

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Cover Story: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a homozygous deletion or gene conversion of the SMN1 gene in 95% of cases. Early diagnosis through newborn screening (NBS) and prompt treatment are vital for better outcomes. From October 2021 to August 2024 in a study in the Valencian Community, 31,560 dried blood spot samples were tested using quantitative PCR to detect SMN1 exon 7 deletions. Four samples were positive, indicating an incidence of 1 in 7,890. Genetic confirmation via MLPA and the use of an AmplideX PCR/CE SMN1/2 Plus kit showed consistent SMN2 copy numbers. Two patients showed severe hypotonia, making them ineligible for treatment, while the other two received Risdiplam, with these individuals being the first presymptomatic patients with two copies of SMN2 to receive this treatment in Spain. The study findings support official NBS implementation for SMA. View this paper

Articles (22)

  • Article
  • Open Access
1,224 Views
12 Pages
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Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China

  • Xudong Wang,
  • Xingxiu Lu,
  • Faming Zheng,
  • Kun Lin,
  • Minjuan Liao,
  • Yi Dong,
  • Tiantian Chen,
  • Ying He,
  • Mei Lu and
  • Jing Chen
  • + 2 authors
Int. J. Neonatal Screen.2025, 11(1), 22;https://doi.org/10.3390/ijns11010022

13 March 2025

Long-read sequencing (LRS) provides comprehensive genetic information, but research of LRS applied to congenital adrenal hyperplasia (CAH) newborn screening is limited. This study aimed to evaluate the clinical utility of LRS in genetic diagnosis and...

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  • Article
  • Open Access
1,307 Views
24 Pages
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Evaluation of the Florida Newborn Screening Program Education Campaign

  • Mirine Richey,
  • Cynthia B. Wilson,
  • Minna Jia and
  • Travis Galbraith
Int. J. Neonatal Screen.2025, 11(1), 20;https://doi.org/10.3390/ijns11010020

10 March 2025

Florida’s Newborn Screening Program campaign aims to increase the awareness and participation of birthing facilities, providers, and parents. This evaluation aimed to determine the effectiveness and reach of the Newborn Screening Program (NBS)...

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  • Article
  • Open Access
1,463 Views
14 Pages
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Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait

  • Hind Alsharhan,
  • Amir A. Ahmed,
  • Marwa Abdullah,
  • Moudhi Almaie,
  • Makia J. Marafie,
  • Ibrahim Sulaiman,
  • Reem M. Elshafie,
  • Ahmad Alahmad,
  • Asma Alshammari and
  • Parakkal Xavier Cyril
  • + 8 authors
Int. J. Neonatal Screen.2025, 11(1), 19;https://doi.org/10.3390/ijns11010019

28 February 2025

Newborn screening for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency in Kuwait was initiated in October 2014. Over a 7-year period (January 2015 to December 2021), 43 newborns were diagnosed with VLCAD deficiency out of 356,819 screened, c...

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  • Article
  • Open Access
3,716 Views
12 Pages
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International Survey on Phenylketonuria Newborn Screening

  • Domen Trampuž,
  • Peter C. J. I. Schielen,
  • Rolf H. Zetterström,
  • Maurizio Scarpa,
  • François Feillet,
  • Viktor Kožich,
  • Trine Tangeraas,
  • Ana Drole Torkar,
  • Matej Mlinarič and
  • Daša Perko
  • + 7 authors
Int. J. Neonatal Screen.2025, 11(1), 18;https://doi.org/10.3390/ijns11010018

26 February 2025

Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practi...

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  • Article
  • Open Access
2 Citations
1,271 Views
9 Pages
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Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening

  • Maria Jose de Castro Lopez,
  • Fiona J. White,
  • Victoria Holmes,
  • Jane Roberts,
  • Teresa H. Y. Wu,
  • James A. Cooper,
  • Heather J. Church,
  • Gemma Petts,
  • Robert F. Wynn and
  • Simon A. Jones
  • + 1 author
Int. J. Neonatal Screen.2025, 11(1), 17;https://doi.org/10.3390/ijns11010017

25 February 2025

Wolman disease (WD) is a lethal disorder defined by the deficiency of the lysosomal acid lipase enzyme. Patients present with intestinal failure, malnutrition, and hepatosplenomegaly. Enzyme replacement therapy (ERT) with dietary substrate reduction...

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  • Article
  • Open Access
1,467 Views
13 Pages
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Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen

  • Hayley A. Ron,
  • Owen Kane,
  • Rose Guo,
  • Caitlin Menello,
  • Nicole Engelhardt,
  • Shaney Pressley,
  • Brenda DiBoscio,
  • Madeline Steffensen,
  • Sanmati Cuddapah and
  • Kim Ng
  • + 2 authors
Int. J. Neonatal Screen.2025, 11(1), 16;https://doi.org/10.3390/ijns11010016

24 February 2025

Pennsylvania started newborn screening for Pompe disease (PD) in 2016. As a result, the prevalence of PD has increased with early detection, primarily of late-onset Pompe disease (LOPD). No clear guidelines exist regarding if and when to initiate enz...

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  • Article
  • Open Access
1 Citations
1,389 Views
16 Pages
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Non-Uptake of Newborn Screening in Planned Homebirth Is Associated with Preventive Health Practices for Infants: A Retrospective Case-Control Study

  • Chen Stein-Zamir,
  • Hanna Shoob,
  • Sandra Katan,
  • Gina Verbov and
  • Shlomo Almashanu
Int. J. Neonatal Screen.2025, 11(1), 15;https://doi.org/10.3390/ijns11010015

21 February 2025

Universal Newborn Screening (NBS) programs (for endocrine, immunologic and metabolic disorders) are effective in reducing child morbidity and mortality. Despite available health services, NBS is not carried out for some newborns. The contributing fac...

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  • Article
  • Open Access
2 Citations
1,202 Views
14 Pages
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Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden

  • Chiara Cazzorla,
  • Vincenza Gragnaniello,
  • Giacomo Gaiga,
  • Daniela Gueraldi,
  • Andrea Puma,
  • Christian Loro,
  • Giada Benetti,
  • Rossana Schiavo,
  • Elena Porcù and
  • Alessandro P. Burlina
  • + 1 author
Int. J. Neonatal Screen.2025, 11(1), 14;https://doi.org/10.3390/ijns11010014

14 February 2025

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 late-onset disorders can cause pare...

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  • Technical Note
  • Open Access
1,091 Views
4 Pages
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Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots

  • Peter C. J. I. Schielen,
  • Dianne Webster,
  • J. Gerard Loeber and
  • James R. Bonham
Int. J. Neonatal Screen.2025, 11(1), 13;https://doi.org/10.3390/ijns11010013

9 February 2025

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, phenylala...

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