Table 1 Demographics of infants admitted to the NICU in Phase II who had a genetics consult for an undiagnosed condition.
From: Integrating rapid exome sequencing into NICU clinical care after a pilot research study
[number (%) unless otherwise noted] | Total n = 230 | Got rapid ES n = 80 | Did not get rapid ES n = 150 | p valuea |
|---|---|---|---|---|
Male sex | 130 (57) | 41 (51) | 89 (59) | 0.265 |
GA (weeks; median (IQR)) | 37 (34, 39) | 36 (33, 38) | 37 (34, 39) | 0.142 |
Prematurity <37 weeks | 102 (44) | 40 (50) | 62 (41) | 0.214 |
BW (grams; median (IQR)) | 2665 (1980, 3195) | 2665 (1735, 3185) | 2664.5 (2065, 3192.5) | 0.417 |
Low BW <2500 grams | 100 (43) | 35 (44) | 65 (43) | 1 |
Age at genetics consult (days; median (IQR)) | 9 (3, 36) | 10.5 (4, 52) | 7 (3, 28) | 0.108 |
Interval from NICU admission to genetics consultb (days; median (IQR)) | 2 (1, 5) | 2 (1, 4) | 2 (1, 6) | 0.985 |
Phenotypic criteria | ||||
Neurologic (e.g., hypotonia, seizures) | 53 (23) | 31 (39) | 22 (15) | <0.001 |
Congenital anomaly/anomalies | 119 (52) | 34 (43) | 85 (57) | 0.052 |
Suspected metabolic disease | 49 (21) | 21 (26) | 28 (19) | 0.236 |
Dysmorphic features | 100 (43) | 28 (35) | 72 (48) | 0.07 |
Failure to thrive | 5 (2) | 4 (5) | 1 (1) | 0.051 |
End of life | 4 (2) | 3 (4) | 1 (1) | 0.122 |
Family history of genetic disorder | 6 (3) | 1 (1) | 5 (3) | 0.667 |
Likely Mendelian disorderc | 6 (3) | 2 (3) | 4 (2) | 1 |
Critical illness | ||||
Respiratory support (CPAP, NIPPV, or intubation) | 168 (73) | 65 (81) | 103 (69) | 0.0436 |
Inotropic support | 65 (30) | 28 (35) | 37 (25) | 0.124 |
Dialysis | 9 (4) | 4 (5) | 5 (3) | 0.723 |
Mortality (by 12 months) | 34 (15) | 21 (26) | 13d (9) | <0.001 |
Total BCH NICU Length of stay (days; median (IQR)) | 13 (5, 29) | 21 (10, 46) | 10 (3, 23.5) | <0.001 |
