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. Author manuscript; available in PMC: 2015 Jun 17.
Published in final edited form as: JAMA Pediatr. 2014 Apr;168(4):361–370. doi: 10.1001/jamapediatrics.2013.4779

Table 2.

Timing of CCHD Detection via Echocardiography or Autopsy Among 3746 Infants in the National Birth Defects Prevention Study, 1998–2007

No. of Patients Timely Detection,
No. (%) [95% CI]a 		No. of Patients Total Late Detection,
No. (%) [95% CI]a 		EKG Dx
in Late
Detection,
Time After
Birth, Median
(Range), db
All Before
Birth		 Day Day Dx at
Autopsy
(>Day
3)
1 2 3 4 5 6 ≥7
Single CCHD
  Pulmonary atresia 120 25 52 28 6 111 (92.5) [87.8–97.2] 1 1 0 7 0 9 (7.5) [3.5–13.8]c 8 (4–205)
  Tricuspid atresia 90 23 37 15 4 79 (87.8) [81.0–94.5] 1 1 1 8 0 11 (12.2) [5.5–19.0] 18 (4–95)
  Hypoplastic left heart syndrome 427 113 143 62 53 371 (86.9) [83.7–90.1] 16 6 9 23 2 56 (13.1) [9.9–16.3] 6 (4–131)
  Dextrotransposition of the great arteries 650 84 282 159 37 562 (86.5) [83.8–89.1] 9 5 3 70 1 88 (13.5) [10.9–16.2] 13 (4–205)
  Aortic stenosis, critical 20 3 7 4 2 16 (80.0) [62.5–97.5] 0 1 0 3 0 4 (20.0) [5.7–43.7]c 9 (5–61)
  Ebstein anomaly 90 11 40 18 2 71 (78.9) [70.5–87.3] 6 0 2 11 0 19 (21.1) [12.7–29.5] 7 (4–129)
  Single ventricle 127 37 35 21 6 99 (78.0) [70.7–85.2] 5 2 4 17 0 28 (22.0) [14.8–29.3] 10 (4–182)
  Pulmonary stenosis, critical 101 8 29 30 11 78 (77.2) [69.1–85.4] 4 4 0 15 0 23 (22.8) [14.6–31.0] 10 (4–215)
  Interrupted aortic arch 43 5 5 12 9 31 (72.1) [58.7–85.5] 2 0 0 10 0 12 (27.9) [14.5–41.3] 10 (4–93)
  Tetralogy of Fallot 733 94 178 164 93 529 (72.2) [68.9–75.4] 33 10 10 151 0 204 (27.8) [24.6–31.1] 23 (4–361)
  Double-outlet right ventricle 94 14 27 19 5 65 (69.1) [59.8–78.5] 3 2 1 23 0 29 (30.9) [21.5–40.2] 17 (4–144)
  Truncus arteriosus 68 11 19 9 8 47 (69.1) [58.1–80.1] 3 2 0 15 1 21 (30.9) [19.9–41.9] 14 (4–89)
  Total anomalous pulmonary venous return 190 8 48 44 12 112 (58.9) [52.0–65.9] 4 3 2 69 0 78 (41.1) [34.1–48.1] 29 (4–330)
  Coarctation of the aorta 801 61 80 90 73 304 (38.0) [34.6–41.3] 42 26 27 400 2 497 (62.0) [58.7–65.4] 15 (4–363)
Multiple CCHDd 192 45 77 32 11 165 (85.9) [81.0–90.9] 7 3 3 14 0 27 (14.1) [9.2–19.0] 9 (4–120)
Total 3746 542 1059 707 332 2640 (70.5) [69.0–71.9] 136 66 62 836 6 1106 (29.5) [28.1–31.0] 14 (4–363)

Abbreviations: CCHD, critical congenital heart disease; Dx, diagnosis; EKG, echocardiography.

a

Late detection defined as a Dx more than 3 days after birth via echocardiography or autopsy. Percentages have been rounded and might not total 100.

b

Total includes 1100 infants, excluding 6 who received a first Dx at autopsy (median number of days from birth to autopsy, 5; range: 4–21).

c

Indicates exact 95%CI.

d

Indicates more than 1 screening-detectable CCHD.