Table 2.
Monte Carlo simulation model estimates of the number of nonsyndromic critical congenital heart defect (CCHD) cases in 2012 in the United States estimated to be born alive, prenatally diagnosed, born undiagnosed, timely detected, late detected, and true positives and false negatives resulting from CCHD screening through pulse oximetry, assuming universal implementation of CCHD screening in all states
|
Results of Monte Carlo simulation using 10,000 iterations Mean (95% uncertainty interval) of the estimated number of CCHD cases in 2012a that would be… |
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|---|---|---|---|---|---|---|---|
| CCHD type | Born alive | Prenatally diagnosed |
Born undiagnosed | Timely detected | Late detected | CCHD screening through pulse oximetry |
|
| True positives | False negatives | ||||||
| Primary targets | |||||||
| Hypoplastic left heart syndrome | 655 (475–835) | 365 (260–475) | 290 (200–380) | 200 (135–275) | 85 (55–125) | 80 (50–120) | 10 (0–20) |
| Pulmonary atresia | 165 (75–255) | 85 (40–140) | 80 (35–135) | 75 (30–120) | 10 (0–20) | 5 (0–15) | 0 (0–10) |
| Tetralogy of Fallot | 1,540 (1,265–1,815) | 405 (310–500) | 1,135 (920–1,350) | 730 (580–885) | 405 (315–505) | 160 (80–250) | 245 (160–345) |
| Total anomalous pulmonary venous return | 220 (115–320) | 10 (0–25) | 205 (105–305) | 125 (65–190) | 80 (40–125) | 75 (35–115) | 10 (0–20) |
| Dextro-transposition of the great arteries | 860 (655–1,065) | 240 (175–315) | 620 (465–775) | 500 (375–630) | 120 (80–160) | 110 (70–150) | 10 (0–20) |
| Tricuspid atresia | 180 (85–275) | 80 (35–135) | 100 (45–160) | 80 (35–135) | 20 (5–40) | 15 (0–35) | 5 (0–10) |
| Truncus arteriosus | 155 (70–240) | 75 (30–130) | 80 (35–135) | 50 (20–90) | 30 (10–65) | 30 (10–60) | 5 (0–10) |
| Subtotal | 3,770 (3,345–4,190) | 1,260 (1,085–1,445) | 2,510 (2,200–2,815) | 1,760 (1,535–1,995) | 750 (630–880) | 470 (360–585) | 280 (195–385) |
| Secondary targets | |||||||
| Coarctation of the aorta and interrupted aortic arch | 1,450 (1,185–1,720) | 235 (175–300) | 1215 (990–1450) | 345 (265–435) | 870 (705–1050) | 315 (190–455) | 560 (410–730) |
| Double outlet right ventricle | 65 (10–120) | 25 (5–50) | 40 (5–75) | 20 (5–45) | 20 (0–35) | 15 (0–30) | 5 (0–10) |
| Ebstein anomaly | 245 (135–350) | 45 (15–85) | 195 (105–290) | 150 (80–230) | 45 (20–85) | 20 (10–40) | 25 (10–45) |
| Single ventricle complex | 295 (175–415) | 160 (90–240) | 135 (75–205) | 85 (40–140) | 50 (20–85) | 40 (15–75) | 10 (0–25) |
| Subtotal | 2,050 (1,740–2,370) | 465 (360–575) | 1,585 (1,325–1,845) | 600 (480–730) | 985 (810–1,165) | 390 (260–535) | 595 (445–765) |
| Multiple CCHD | 140 (60–225) | 70 (30–120) | 70 (30–115) | 50 (20–85) | 20 (5–35) | 15 (5–25) | 5 (0–10) |
| All nonsyndromic CCHDb | 5,965 (5,415–6,515) | 1,800 (1,580–2,020) | 4,165 (3,765–4,580) | 2,410 (2,150–2,680) | 1,755 (1,540–1,980) | 875 (705–1,060) | 880 (700–1,080) |
Notes: The mean number born alive should equal the mean number prenatally diagnosed plus the mean number born undetected and the mean number born undiagnosed should equal the mean number timely detected plus the mean number late detected, but any differences in the total are due to rounding all estimates to the nearest fives cases
Calculated using the number of live births in 2012 (3,952,937)26
No model inputs were used for the “all nonsyndromic CCHD” category as estimates of the number of cases detected/missed through CCHD screening through pulse oximetry were derived by summing across the CCHD categories for each of the 10,000 simulations, then calculating the mean, median and 95% uncertainty interval across the 10,000 simulations for a given parameter