OA/TOF epidemiological data
| Depaepe et al14 | Robert et al2 | Torfs et al15 | |
|---|---|---|---|
| *Fraction of cases with isolated OA/TOF expressed as a percentage of all cases; †includes chromosome cases. | |||
| NS, not stated; NTD, neural tube defect. | |||
| Geographical location | Europe | Worldwide | California |
| Total births | 1 546 889 | 10 541 994 | 1 035 384 |
| Ascertainment | Live births, fetal deaths, | Live births, still births | Live births and |
| induced abortions | with gestational age 28 | stillbirths | |
| completed weeks | |||
| or more | |||
| Number of cases | 442 | 2693 | 292 |
| Incidence/10 000 | 2.86 | 2.55 | 2.82 |
| Isolated cases* | 45.0% | 57.3% | 38.7% |
| Sex ratio (isolated cases) | 62% male | 56.5% male | 52.2% male |
| Chromosomal cases | |||
| Trisomy 13 | 1 | 2 | 1 |
| Trisomy 18 | 21 | 87 | 19 |
| Trisomy 21 | 22 | 72 | 8 |
| Other | 0 | 9 | 1 |
| Total | 44 (10.0%) | 170 (6.3%) | 29 (9.6%) |
| Associated/syndromal cases†: other malformations | |||
| Cardiac malformation | 20.4% | 13.2% | 34% |
| Renal malformation | 14.0% | 4.9% | NS |
| CNS defect (excluding NTD) | NS | 1.4% | NS |
| Axial skeleton defect | 21.2% | 6.6% | NS |
| Limb reduction defect | 19.2% | 4.7% | NS |
| Anal atresia/stenosis | 11.6% | 10.4% | 16.4% |
| Genital anomaly | 3.0% | 2.9% | NS |
| Eye malformation | NS | 1.2% | NS |
| Cleft lip/palate | 3.4% | 2.9% | NS |