Table 2.
Results of studies investigating clinical feasibility and utility of NGS in critically ill neonates.
| Authors | Number of Participants | Number of Diagnoses | Number with Changes in Management | Number with Escalation of Care | Number with Limitation of Care |
|---|---|---|---|---|---|
| Willig et al. | 35 | rWGS 20/35 (57%) | 13 | 6 | 6 |
| Van Diemen et al. | 23 | 7/23 (30%) | Not reported | Not reported | Not reported |
| Meng et al. | 278 | 102 (36.7%) Subset: rWES 32/63 (50.8%) |
53 Subset rWES: 23/32 |
12 | 19 |
| French et al. | 195 | 40 (21%) | 12 | 5 | 7 |
| Elliott et al. | 25 | 18 (72%) | 15 | 4 | 3 |
| Kingsmore et al. | 213 | 49 (24%) urWGS 11/24 (46%) rWGS 18/94 (19%) rWES 19/95 (20%) |
Not reported | Not reported | Not reported |
| Freed et al. | 46 | 20 (43%) | 24 | 5 | 5 |
rWES, rapid whole exome sequencing; rWGS, rapid whole genome sequencing; urWGS, ultra-rapid whole genome sequencing.