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. 2022 Mar 23;8(2):24. doi: 10.3390/ijns8020024

Table 4.

Comparison of U.S. newborn screening outcomes for X-ALD across six publications plus the present study. Positive screens and how those were classified as various diagnoses or false-positive cases were defined by their respective authors.

State Publication Study Length Total # Screened Positive Screens Male X-ALD Female
Heterozygote
Peroxisome
Biogenesis Disorder
Other Genetic Syndrome
California Matteson et al., 2021 [43] 4 years 1,854,631 355 95 110 23 12
Georgia Hall et al., 2020 [42] 7 months 51,081 11 1 0 2 0
Illinois Burton et al., 2022 [44] 1 year 11 months 276,000 34 a 7 10 b 3 0
New York Moser et al., 2016 [2] 2 years 8 months 630,000 53 20 c 22 - d - d
North Carolina Lee et al., 2020 [41] 6 months 52,301 12 3 3 1 1
Minnesota Wiens et al., 2019 [40] 1 year 67,836 14 9 5 0 0
Pennsylvania Present Study 4 years 2 months 542,554 51 21 23 4 0

a Illinois also employs a system in which initial dried blood spot C26:0-LPC levels ≥0.28 µmol/L are considered positive and levels 0.18–0.28 µmol/L are considered borderline. Repeat dried blood spot specimens are requested for borderline cases and considered positive if C26:0-LPC levels are ≥0.28 µmol/L or borderline if C26:0-LPC levels are 0.18–0.28 µmol/L. Here, all positive screens are included, regardless of whether they were positive on the first or second dried blood spot specimen. b One female individual was found to be homozygous for her ABCD1 variant due to isodisomy X and is included in this number. c One male individual was found to be heterozygous for his ABCD1 variant due to 47,XXY and is included in this number. d Ten cases screened positive but did not harbor an identified ABCD1 variant. It was included whether any of these cases represented alternative diagnoses.