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International Journal of Neonatal Screening, Volume 9, Issue 2

June 2023 - 18 articles

Cover Story: A number of problems emerged at the start of the COVID-19 pandemic. Newborn screening (NBS) programs, although being a vital public health service, also faced staff and essential supply shortages. All processes in NBS had to be re-evaluated to ensure safe blood collection, transportation, analysis and result communication. Telemedicine gained attention to enable communication with patients, parents, and medical staff. Despite these difficulties, with adaptations, modifications and contingency planning, some centres continued NBS with minimal problems or even implemented novel NBS protocols for the inclusion of additional diseases. National and international collaborations are important to learn and to improve NBS programs during a time of crisis and also in regular daily practice. View this paper
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Articles (18)

  • Article
  • Open Access
13 Citations
4,523 Views
9 Pages

Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected o...

  • Opinion
  • Open Access
18 Citations
4,004 Views
16 Pages

Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficie...

  • Review
  • Open Access
3 Citations
4,387 Views
11 Pages

Newborn Screening in a Pandemic—Lessons Learned

  • Matej Mlinaric,
  • James R. Bonham,
  • Viktor Kožich,
  • Stefan Kölker,
  • Ondrej Majek,
  • Tadej Battelino,
  • Ana Drole Torkar,
  • Vanesa Koracin,
  • Dasa Perko and
  • Ziga Iztok Remec
  • + 5 authors

The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pand...

  • Review
  • Open Access
20 Citations
4,679 Views
8 Pages

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018

  • Sikha Singh,
  • Jelili Ojodu,
  • Alex R. Kemper,
  • Wendy K. K. Lam and
  • Scott D. Grosse

The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS). During 2010–2022, seven conditions were added to the RUSP: sev...

  • Article
  • Open Access
5 Citations
10,187 Views
15 Pages

Newborn Screening (NBS) saves babies from mental retardation and death. In the Philippines, it was formally established by law in 2004. Program success requires physicians, nurses, and midwives to educate and motivate parents. The COVID-19 pandemic r...

  • Article
  • Open Access
3 Citations
4,804 Views
11 Pages

Secondary Reporting of G6PD Deficiency on Newborn Screening

  • Stephanie C. Hoang,
  • Pamela Blumenschein,
  • Margaret Lilley,
  • Larissa Olshaski,
  • Aisha Bruce,
  • Nicola A. M. Wright,
  • Ross Ridsdale and
  • Susan Christian

In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Th...

  • Article
  • Open Access
9 Citations
3,145 Views
13 Pages

Congenital cytomegalovirus (cCMV) continues to be a major public health care issue due to its high prevalence throughout the world. However, there is a paucity of studies evaluating how providers manage this infection. This study surveyed North Ameri...

  • Case Report
  • Open Access
2 Citations
2,540 Views
5 Pages

Newborn screening for congenital hypothyroidism (CH) has dramatically improved the neurocognitive outcomes for newborns with a confirmed positive screening test result. However, screening yields a small number of false positive and false negative res...

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