Table 2.

Selected spinal muscular atrophy newborn screening studies.

Reference	Region	Screening Method	SMN2 Inclusion	Number of Newborns Screened	Reported Incidence in Sample	Study Type
Chien et al. 2017 [33]	Taiwan	Real-time PCR SMN1 assay to detect homozygous exon 7 deletion; verified by droplet digital PCR assay	Droplet digital PCR assay to assess SMN2 copy number	120,267	1 in 17,181	Pilot
Boemer et al. 2019 [32]	Belgium	Real-time PCR SMN1 assay to detect homozygous exon 7 deletion	No	Not applicable	Not applicable	Pilot
Vill et al. 2019 [36]	Germany	Real-time PCR SMN1 assay to detect homozygous exon 7 deletion; verified by multiplex ligation-dependent probe amplification (MLPA)	MLPA to assess SMN2 copy number	165,525	1 in 7524	Pilot
Kariyawasam et al. 2020 [34]	Australia	Real-time PCR SMN1 assay to detect homozygous exon 7 deletion	Droplet digital PCR assay to assess SMN2 copy number	103,903	1 in 10,390	Pilot
Kay et al. 2020 [35]	New York	Real-time PCR SMN1 assay to detect homozygous exon 7 deletion	Real-time PCR assay to assess SMN2 copy number	225,093	1 in 28,137	Routine