Table 1 Demographic and clinical characteristics of the 42 proband, inpatient infants
From: Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Total | Rapid WGS | ||||
|---|---|---|---|---|---|
(n = 42) | Diagnostic (n = 18)a | Negative (n = 24) | |||
Sex | Female | 21 (50%) | 10 (56%) | 11 (46%) | |
Male | 21 (50%) | 8 (44%) | 13 (54%) | ||
Race and ethnicity | Caucasian | 12 (29 %) | 6 (33%) | 6 (25%) | |
Hispanic/Latino | 25 (59%) | 10 (56%) | 15 (63%) | ||
African/ African American | 0 (0%) | 0 (0%) | 0 (0%) | ||
Asian/Native American/Pacific Islander | 3 (7%) | 2 (11%) | 1 (4%) | ||
Other | 2 (5%) | 0 (0%) | 2 (8%) | ||
Consanguinity | 1 (2%) | 1 (6%) | 0 (0%) | ||
Source of nominations | Level IV neonatal intensive care unit | 23 (55%) | 10 (56%) | 13 (54%) | |
Cardiovascular Intensive care unit | 4 (10%) | 2 (11%) | 2 (8%) | ||
Regional paediatric intensive care unit | 3 (7%) | 1 (6%) | 2 (8%) | ||
Inpatient gastroenterology | 9 (21%) | 4 (22%) | 5 (21%) | ||
Inpatient neurology | 2 (5%) | 1 (6%) | 1 (4%) | ||
Inpatient haematology | 1 (2%) | 0 (0%) | 1 (4%) | ||
Birth characteristics | Gestational age | < 37 wks | 11 (26%) | 5 (28%) | 6 (25%) |
Birth weight | < 2.5 Kg | 10 (24%) | 3 (17%) | 7 (29%) | |
Not recorded | 4 (10%) | 1 (6%) | 3 (13%) | ||
APGAR score | at 1 min (average) | 6.8 | 5.4 | 5 | |
at 5 min (average) | 8.2 | 7.0 | 6.5 | ||
<7 at 1 min | 14 (33%) | 6 (33%) | 8 (33%) | ||
<7 at 5 min | 5 (12%) | 1 (6%) | 4 (17%) | ||
Not recorded | 14 (33%) | 4 (22%) | 10 (42%) | ||
Symptom onset | <1 month | 36 (86%) | 17 (94%) | 19 (79%) | |
Primary system involved | Multiple congenital anomalies | 12 (29%) | 6 (33%) | 6 (25%) | |
Neurological | 9 (21%) | 5 (28%) | 4 (17%) | ||
Hepatic | 8 (19%) | 3 (17%) | 5 (21%) | ||
Cardiac | 3 (7%) | 0 (0%) | 3 (13%) | ||
Haematological | 3 (7%) | 0 (0%) | 3 (13%) | ||
Gastrointestinal | 3 (7%) | 2 (11%) | 1 (4%) | ||
Endocrine/biochemical | 2 (5%) | 1 (6%) | 1 (4%) | ||
Musculoskeletal | 1 (2%) | 1 (6%) | 0 (0%) | ||
Pulmonary | 1 (2%) | 0 (0%) | 1 (4%) | ||
Medical management | Inotropic support | 17 (40% | 7 (39%) | 10 (42%) | |
Respiratory support | 32 (76%) | 12 (67%) | 20 (83%) | ||
Intubated | 25 (60%) | 8 (44%) | 17 (71%) | ||
Antimicrobial treatment | 34 (81%) | 14 (78%) | 20 (83%) | ||
>5 Subspecialist consults | 13 (31%) | 7 (39%) | 6 (25%) | ||
Mortality | 9 (21%) | 2 (11%) | 7 (29%) | ||
