Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.

ABSTRACT:

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-nega

SUBMITTER: D'Silva AM 

PROVIDER: S-EPMC9299803 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature