Table 3 Comparison between diagnostic and non-diagnostic rapid ES in the NICU in Phase II.
From: Integrating rapid exome sequencing into NICU clinical care after a pilot research study
[number (%) unless otherwise noted] | Diagnostic n = 22 | Non-diagnostic n = 58 | p valuea |
|---|---|---|---|
Male sex | 9 (41) | 32 (55) | 0.319 |
GA (weeks; median (IQR)) | 37 (36, 39.8) | 36 (32, 37) | 0.028 |
Prematurity <37 weeks | 8 (36) | 32 (55) | 0.210 |
BW (grams; median (IQR)) | 2945 (2270, 3515) | 2600 (1550, 3050) | 0.011 |
Low BW <2500 grams | 8 (36) | 27 (47) | 0.459 |
Age at genetics consult (days; median (range)) | 6 (3.3, 13) | 15 (4, 61) | 0.123 |
Phenotypic criteria | |||
Neurologic (e.g., hypotonia, seizures) | 11 (50) | 20 (34) | 0.304 |
Congenital anomaly/anomalies | 12 (55) | 22 (38) | 0.211 |
Suspected metabolic disease | 4 (18) | 17 (29) | 0.401 |
Dysmorphic features | 10 (45) | 18 (31) | 0.295 |
Failure to thrive | 2 (9) | 2 (3) | 0.303 |
End of life | 0 (0) | 3 (5) | 0.557 |
Family history of the genetic disorder | 1 (5) | 0 (0) | 0.275 |
Likely Mendelian disorder | 0 (0) | 2 (3) | 0.523 |
Critical illness | |||
Respiratory support (CPAP, NIPPV, or intubation) | 17 (77) | 48 (83) | 0.749 |
Inotropic support | 5 (23) | 23 (40) | 0.195 |
Dialysis | 2 (9) | 2 (3) | 0.303 |
Mortality (by 12 months) | 8 (36) | 13 (22) | 0.257 |
