Making Decisions About Krabbe Disease Newborn Screening

Kurtzberg, Joanne; Matern, Dietrich; Orsini, Joseph J.; Gelb, Michael H.; Pike-Langenfeld, Stacy; Brackbill, Lesa; Grantham, Anna; Steyermark, Anthony C.

doi:10.1542/peds.2022-057888a

Cited by 2 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A number of reports concerning KD have occurred in recent years. A 2022 report reviews considerations and concerns about NBS for KD based on state advisory committee deliberations [ 100 ] and a letter in response provides support for screening with answers to questions raised in advisory committee discussions [ 101 ]. A 2022 article on KD NBS [ 102 ] reviews progress made over the past five years in meeting RUSP requirements and notes that, “ …ethicists and newborn screening advisory committees continue to disregard the progress … made in the treatment and screening of KD.…”

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

View full text Add to dashboard Cite

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

show abstract

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

View full text Add to dashboard Cite

show abstract

“…Should lifesaving treatments for some children trump burden on families who wait and see? Disagreement among stakeholders about these issues is inevitable …”

Section: The Krabbe Conundrummentioning

confidence: 99%

“…At first glance, it seems that the ACHDNC would have recommended Krabbe disease because 2 primary ques-tions had been answered in the affirmative: (1) Does NBS prevent or reduce mortality in EIKD? (2) Is NBS feasible for state laboratories? But 3 possible harms were discussed: • Harms to the child, including possible death following HSCT, false-positive results, and risk of treatment urgency, leading to HSCT for children who do not need it.…”

Section: The Krabbe Conundrummentioning

confidence: 99%

The Krabbe Conundrum—How Are Benefits and Harms Weighed to Determine the Net Benefit of Screening?

Bailey

2023

JAMA Pediatr

View full text Add to dashboard Cite

show abstract

Making Decisions About Krabbe Disease Newborn Screening

Cited by 2 publications

References 5 publications

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

The Krabbe Conundrum—How Are Benefits and Harms Weighed to Determine the Net Benefit of Screening?

Contact Info

Product

Resources

About