Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
Journal
Developmental medicine and child neurology
ISSN: 1469-8749
Titre abrégé: Dev Med Child Neurol
Pays: England
ID NLM: 0006761
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
revised:
04
11
2021
received:
04
05
2021
accepted:
08
11
2021
pubmed:
29
11
2021
medline:
8
4
2022
entrez:
28
11
2021
Statut:
ppublish
Résumé
This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA). We used an implementation-effectiveness study design and continuous interdisciplinary review to measure SMA NBS test protocol performance, identify and overcome laboratory and clinical barriers to implementation, and describe progress during the 2-year pilot study. The NBS programme screened 252 081 newborn infants from 1st August 2018 to 31st January 2021. Using an NBS pilot test protocol, 21 infants were diagnostically confirmed with SMA. The NBS pilot test protocol had a sensitivity of 100%, specificity greater than 99.9%, false-positive rate less than 0.001%, a false-negative rate of 0%, and positive predictive value of 95.5%. A severe phenotype was predicted on the basis of two copies of SMN2 in 57.2% of newborn infants screening positive for SMA. Clinical signs consistent with SMA were evident in 6 out of 21 screen-positive newborn infants within the first 4 weeks of life. A multidisciplinary team establishing strong partnerships across clinical and laboratory staff was key to implementation. This pilot programme suggests that NBS is essential for early identification of newborn infants at risk of SMA and can be effectively translated into clinical practice.
Identifiants
pubmed: 34839535
doi: 10.1111/dmcn.15117
pmc: PMC9299803
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
625-632Investigateurs
Anja Ravine
(A)
David Mowat
(D)
Hugo Sampaio
(H)
Ian E Alexander
(IE)
Jacqui Russell
(J)
Kristi Jones
(K)
Zena Junek
(Z)
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2021 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
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