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1 Citations
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4 Pages
William Harry Hannon—A Life Well Lived
- Bradford L. Therrell,
- Robert F. Vogt and
- Joanne V. Mei
Dr [...]
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International Journal of Neonatal Screening, Volume 8, Issue 2
June 2022 - 15 articles
Cover Story: Newborn screening has the potential to detect several rare conditions in asymptomatic children, enabling early treatment and significantly better outcomes. Nevertheless, newborn screening programmes vary considerably across Europe. To help improve the equity of the provision of newborn screening; to ensure that all children can be offered high-quality screening regardless of race, nationality, and socio-economic status; and to spark innovations to achieve these goals, a technical meeting endorsed by the Slovenian Presidency of the Council of the European Union was held in October 2021. View this paper
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Articles (15)
- Commentary
3 Citations
3,979 Views
8 Pages
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing
- Calli O. Mitchell,
- Greysha Rivera-Cruz,
- Matthew Hoi Kin Chau,
- Zirui Dong,
- Kwong Wai Choy,
- Jun Shen,
- Sami Amr,
- Anne B. S. Giersch and
- Cynthia C. Morton
Recent advances in genomic sequencing technologies have expanded practitioners’ utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data from progress in the...
- Article
13 Citations
4,344 Views
18 Pages
Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs
- Lynn Bush,
- Hannah Davidson,
- Shani Gelles,
- Dawn Lea and
- Laura M. Koehly
With the expansion of newborn screening conditions globally and the increased use of genomic technologies for early detection, there is a need for ethically nuanced policies to guide the future integration of ever-more comprehensive genomics into pop...
- Article
2 Citations
2,859 Views
8 Pages
Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity
- Kristen Thompson,
- Shelby Atkinson and
- Mary Kleyn
Educating parents about the newborn screening (NBS) process is critical in ensuring that families are aware of their child’s NBS, which could contribute to better outcomes for the baby and experiences for the family. Successful education effort...
- Article
11 Citations
4,938 Views
6 Pages
Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience
- Natasha Heather,
- Mark de Hora,
- Shannon Brothers,
- Pippa Grainger,
- Detlef Knoll and
- Dianne Webster
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three...
- Article
19 Citations
3,819 Views
7 Pages
A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis
- Suzannah Kinsella,
- Henrietta Hopkins,
- Lauren Cooper and
- James R. Bonham
Cystic fibrosis (CF) has been included within the UK national newborn screening programme since 2007. The approach uses measures of immunoreactive trypsin (IRT) in dried blood spot samples obtained at day 5 of life. Samples which reveal IRT results &...
- Review
33 Citations
8,641 Views
11 Pages
Towards Achieving Equity and Innovation in Newborn Screening across Europe
- Jaka Sikonja,
- Urh Groselj,
- Maurizio Scarpa,
- Giancarlo la Marca,
- David Cheillan,
- Stefan Kölker,
- Rolf H. Zetterström,
- Viktor Kožich,
- Yann Le Cam and
- Gulcin Gumus
- + 7 authors
Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected...
- Article
3 Citations
2,611 Views
6 Pages
Introduction of a Protocol for Structured Follow-Up and Texting of Inadequate and Borderline-Positive Newborn Metabolic Screening Results
- Natasha Heather,
- Lisa Morgan,
- Detlef Knoll,
- Keith Shore,
- Mark de Hora and
- Dianne Webster
A national protocol for structured follow-up and texting of repeat newborn bloodspot screening (NBS) sample requests was introduced. Repeat samples are needed where the initial sample is inadequate or the result borderline-positive. This protocol aim...
- Article
14 Citations
4,156 Views
9 Pages
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges
- Craig V. Baker,
- Alyssa Cady Keller,
- Richard Lutz,
- Karen Eveans,
- Krystal Baumert,
- James C. DiPerna and
- William B. Rizzo
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two n...
- Article
7 Citations
4,824 Views
14 Pages
COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance
- Sikha Singh,
- Michele Caggana,
- Carol Johnson,
- Rachel Lee,
- Guisou Zarbalian,
- Amy Gaviglio,
- Alisha Keehn,
- Mia Morrison,
- Scott J. Becker and
- Jelili Ojodu
Newborn screening (NBS) is an essential public health service that performs screening to identify those newborns at increased risk for a panel of disorders, most of which are genetic. The goal of screening is to link those newborns at the highest ris...
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Int. J. Neonatal Screen. - ISSN 2409-515X