Table 1.
Positive galactosemia newborn screening and following diagnostic results in Alberta between April 2019 and March 2022.
Characteristic | n = 14 | % |
---|---|---|
Sex | ||
Males | 7 | 50 |
Females | 7 | 50 |
Age at report of NBS results | 9.2 days (range 4–25 days) | |
Diagnosis | ||
Confirmed classic galactosemia | 1 | 7 |
Confirmed clinical variant galactosemia | 1 | 7 |
Confirmed Duarte variant galactosemia | 9 | 64 |
False positive | 3 | 21 |
Age at confirmation of diagnosis | 18.5 days (range 5–63 days) |