Table 1.
Correlation of metabolite levels between screen-negatives and false-positives at early, standard and late AaBC.
| Effect Size∧ | Number of False Positives (%) | |||||
|---|---|---|---|---|---|---|
| Disorder | Marker (20) | Early | Late | Early | Standard | Late |
| CTD | C0↓ | 0.23+ | −0.015 | 44 (9.3%) E: 102*** | 381 (80.9%) E: 347 | 46 (9.8%) E: 22*** |
| PA | C3↑ | 0.23# | −0.11 | 29 (29.6%) E: 21 | 65 (66.3%) E: 72 | 4 (4.1%) E: 5 |
| MMA | C3↑ | 0.23+ | −0.11 | 66 (34.7%) E: 41*** | 97 (51.1%) E: 140 | 27 (14.2%) E: 9*** |
| IVA | C5↑ | 0.24+ | 0.31& | 12 (41.4%) E: 6* | 16 (55.2%) E: 21 | 1 (3.5%) E: 1 |
| VLCADD | C14:1↑ | −0.04 | –0.26& | 20 (15.2%) E: 29 | 97 (73.5%) E: 97 | 15 (11.4%) E: 6** |
| CITR$ | Citrulline↑ | 0.06 | –0.28& | 19 (19.6%) E: 21 | 68 (70.1%) E: 71 | 10 (10.3%) E: 4* |
| OTCD | Citrulline↓ | 0.06 | –0.28+ | 27 (11.0%) E: 53 | 129 (52.7%) E: 181 | 89 (36.3%) E: 11*** |
| HCY | Methionine↑ | 0.50# | –0.34# | 3 (25.0%) E: 3 | 9 (75.0%) E: 9 | 0 (0.0%) E: 1 |
| PKU | Phenylalanine↑ | 0.55+ | –0.41+ | 51 (31.3%) E: 35* | 112 (68.7%) E: 120 | 0 (0.0%) E: 7* |
CITR includes three disorders (ASA, CIT-I, and CIT-II) detected through elevated citrulline levels.
P < 0.05;
P < 0.01;
P < 0.001.
The percentage difference between false positive and screen negative infants in early and late collection groups was compared using Chi-squared test. There are 90,060 (21.7%), 305,674 (73.7%), and 19,135 (4.6%) screen negative newborns in the early, standard and late collection groups, respectively. E indicates expected number of false positives.
Sample size of false positive cases is relatively small.
Consistent and
Inconsistent between Cohen's d and number of false-positives. See for definition in Supplementary Table 3.
Effect size analysis using Cohen's d for marker level differences between early (12–23 h) and late (49–168 h) collection-groups compared to the standard group (24–48 h). Cohen's d with absolute value larger than 0.2 in bold.