TY - JOUR
T1 - Integrating newborn screening for spinal muscular atrophy into health care systems
T2 - an Australian pilot programme
AU - D'Silva, Arlene M.
AU - Kariyawasam, Didu S. T.
AU - Best, Stephanie
AU - Wiley, Veronica
AU - Farrar, Michelle A.
AU - NSW SMA NBS Study Group
AU - Ravine, Anja
AU - Mowat, David
AU - Sampaio, Hugo
AU - Alexander, Ian E.
AU - Russell, Jacqui
AU - Jones, Kristi
AU - Junek, Zena
N1 - Copyright the Author(s) 2021. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.
PY - 2022/5
Y1 - 2022/5
N2 - Aim: This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA). Method: 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. Results: 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. Interpretation: 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.
AB - Aim: This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA). Method: 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. Results: 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. Interpretation: 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.
UR - http://www.scopus.com/inward/record.url?scp=85120083702&partnerID=8YFLogxK
UR - http://purl.org/au-research/grants/nhmrc/1194940
U2 - 10.1111/dmcn.15117
DO - 10.1111/dmcn.15117
M3 - Article
C2 - 34839535
AN - SCOPUS:85120083702
SN - 0012-1622
VL - 64
SP - 625
EP - 632
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
IS - 5
ER -