Benefits of SMA newborn screening shown in pilot program

The findings of a state-wide pilot newborn screening program for spinal muscular atrophy (SMA) were presented at ICNA/CNS 2020.

Dr Kathryn Elkins from Emory University in Atlanta, Georgia, USA, led a study investigating outcomes in the infants with SMA detected by the newborn screening program in Georgia (launched as a pilot in February 2019).

In the first year, 14 infants were found to be positive for SMA out of a total of 170,000 live-born infants screened – an incidence of 1 in 12,142 births.

Dr Elkins reported that: