Table 2 Rare structural congenital anomalies included in the study with ICD10-BPA, ICD9-BPA and livebirth prevalence estimates with 95% confidence interval (CI)
From: Survival of children with rare structural congenital anomalies: a multi-registry cohort study
Subgroups/anomalies | ICD10-BPA | ICD9-BPA | Prevalence per 10,000 (95% CI) |
|---|---|---|---|
Nervous system | |||
Encephalocele | Q01 | 7420 | 0.37 (0.32–0.42) |
Arhinencephaly/holoprosencephaly | Q041, Q042 | 74,226 | 0.27 (0.23–0.32) |
Anomalies of corpus callosum§ | Q040 | 74,221 | 1.74 (1.63–1.84) |
Eye | |||
Anophthalmos/microphthalmos | Q110, Q111, Q112 | 7430, 7431 | 0.87 (0.80–0.95) |
Anophthalmos | Q110, Q111 | 7430 | 0.17 (0.14–0.20) |
Congenital glaucoma | Q150 | 74,320 | 0.39 (0.34–0.44) |
Ear, face and neck | |||
Anotia | Q160 | 74,401 | 0.23 (0.20–0.28) |
Congenital heart defects | |||
Common arterial truncus* | Q200 | 74,500 | 0.49 (0.44–0.55) |
Double outlet right ventricle* | Q201 | No code | 0.78 (0.71–0.85) |
Single ventricle* | Q204 | 7453 | 0.56 (0.50–0.62) |
Triscuspid atresia and stenosis* | Q224 | 7461 | 0.78 (0.71–0.85) |
Ebstein’s anomaly* | Q225 | 7462 | 0.50 (0.45–0.56) |
Pulmonary valve atresia* | Q220 | 74,600 | 1.01 (0.93–1.09) |
Hypoplastic right heart* | Q226 | 74,688 | 0.21 (0.17–0.24) |
Aortic atresia/interrupted aortic arch* | Q252 | 74,720 | 0.38 (0.33–0.43) |
Total anomalous pulmonary venous return* | Q262 | 74,742 | 0.68 (0.62–0.75) |
Respiratory | |||
Choanal atresia | Q300 | 7480 | 0.86 (0.79–0.94) |
Digestive system | |||
Hirschsprung’s disease | Q431 | 75,130–75,133 | 1.64 (1.54–1.74) |
Atresia of bile ducts | Q442 | 75,165 | 0.40 (0.35–0.45) |
Annular pancreas | Q451 | 75,172 | 0.25 (0.21–0.29) |
Anomalies of intestinal fixation§ | Q433 | 7514 | 1.12 (1.04–1.21) |
Urinary | |||
Unilateral renal agenesis§ | Q600 | No code | 2.00 (1.90–2.12) |
Accessory kidney§ | Q630 | 75,330 | 1.49 (1.39–1.58) |
Bladder exstrophy¥ | Q641 | 7535 | 0.31 (0.27–0.36) |
Epispadia¥ | Q640 | 75,261 | 0.30 (0.26–0.35) |
Posterior urethral valves¥ | Q6420 | 75,360 | 0.92 (0.84–1.00) |
Prune belly sequence¥ | Q794 | 75,672 | 0.08 (0.06–0.10) |
Genital | |||
Indeterminate sex | Q56 | 7527 | 0.51 (0.45–0.56) |
Other anomalies | |||
Situs inversus | Q893 | 7593 | 0.55 (0.49–0.61) |
VATER/VACTERL | Q8726 | 759,895 | 0.26 (0.22–0.30) |
Arthrogryposis multiplex congenita§ | Q743 | 75,580 | 0.50 (0.45–0.56) |