Table 2 Comparison between Phase II and Phase I rapid ES in the NICU.

From: Integrating rapid exome sequencing into NICU clinical care after a pilot research study

[days; median (IQR) unless otherwise noted]

Phase II n = 80a

Phase I n = 35

p valueb

Diagnostic Yield (number (%))

22 (28%)

20 (57%)

0.003

Age at genetics consult

10.5 (4, 52)

7 (3, 26.5)

0.236

Interval from NICU admission to genetics consultc

2 (1, 4)

1 (1, 2)

0.114

Interval from genetics consult to sample collection

4 (2, 15.8)

3 (1, 7)

0.119

Interval from sample collection to ES reportd

13 (10, 16.8)

13 (10, 14)

0.333

Interval from genetics consult to ES report

18 (15, 35)

16 (14, 19.5)

0.019

Interval from NICU admission to ES report

20 (16, 29)

17 (15, 19)

0.016

Age at ES report

45.5 (22, 98)

28 (18.5, 53)

0.015

  1. aTwo infants had ES sent at an outside hospital; dates not included in time intervals.
  2. bCalculated using two-tailed Fisher’s exact test or Mann-Whitney test.
  3. cFor infants with initial genetics consult in our institution’s NICU.
  4. dDate of ES report was abstracted as date of final (written) ES report.
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