Table 2. Prevalence of anomalies from 2003 to 2012, the annual proportional change during this period and the adjusted annual proportional change after excluding outliers for the 17 anomaly subgroups with statistically significant trends identified in Fig 1.
| Birth prevalence per 10,000 births (95% CI) |
Annual proportional change in prevalence (95% CI) | Interpretation of results after detailed investigations within registries and consensus of EUROCAT Steering Committee (see S1 Table for further details) | |||
|---|---|---|---|---|---|
| Anomaly | All registries | Excluding outliers (panel B in Figs 2–10)a |
All registries | Excluding outliers (panel C in Figs 2–10) a |
|
| 1: Microcephaly | 2.00 (1.89–2.11) |
1.25 (1.15–1.36) |
-2.4% (-4.4% to -0.4%) |
-2.9% (-6.0% to 0.1%) |
The diagnostic criteria must be standardised before the estimates of prevalence or trend are interpreted. |
| 2: Severe CHb | 17.20 (16.87–17.53) |
17.08 (16.72–17.46) |
1.4% (0.7% to 2.0%) |
1.1% (0.3% to 1.9%) |
There appears to be an increasing trend. |
| 3: Single ventricle | 0.63 (0.57–0.70) |
0.63 (0.57–0.70) |
4.6% (1.0% to 8.2%) |
4.6% (1.0% to 8.2%) |
There appears to be an increasing trend which will be monitored. |
| 4: Atrioventricular septal defect | 1.80 (1.69–1.90) |
1.82 (1.70–1.94) |
3.4% (1.3% to 5.5%) |
3.1% (0.8% to 5.4%) |
There appears to be an increasing trend. |
| 5: Tetralogy of Fallot | 2.82 (2.69–2.95) |
2.83 (2.69–2.98) |
4.1% (2.4% to 5.7%) |
3.4% (1.5% to 5.2%) |
There appears to be an increasing trend. |
| 6: Patent ductus arteriosus | 3.64 (3.49–3.79) |
2.50 (2.30–2.71) |
-1.9% (-3.4% to -0.4%) |
-3.8% (-6.7% to -0.9%) |
The slight decreasing trend is likely to have resulted from improved coding of PDA rather than a true reduction in prevalence |
| 7: Cystic adenomatous malformation of lung | 0.94 (0.87–1.02) |
0.94 (0.87–1.02) |
6.5% (3.5% to 9.4%) |
6.5% (3.5% to 9.4%) |
There appears to be an increasing trend. |
| 8: Oesophageal atresia | 2.21 (2.09–2.33) |
2.22 (2.10–2.34) |
2.3% (0.4% to 4.2%) |
2.8% (0.8% to 4.7%) |
The observed increasing trend should be interpreted with caution due to variations in prevalence since 1981. |
| 9: Duodenal atresia or stenosis | 0.91 (0.84–0.99) |
0.91 (0.84–0.99) |
3.3% (0.4% to 6.3%) |
3.3% (0.4% to 6.3%) |
The observed increasing trend should be interpreted with caution due to variations in prevalence since 1981. |
| 10: Ano-rectal atresia and stenosis | 2.77 (2.64–2.90) |
2.92 (2.78–3.07) |
2.0% (0.3% to 3.7%) |
2.9% (1.1% to 4.7%) |
The observed increasing trend should be interpreted with caution due to variations in prevalence since 1981. |
| 11: Renal dysplasia | 3.86 (3.71–4.02) |
4.42 (4.25–4.60) |
2.0% (0.6% to 3.5%) |
1.8% (0.3% to 3.2%) |
The observed increasing trend is likely to have resulted from increased uptake of prenatal ultrasounds and not a true increase in prevalence. |
| 12: Congenital hydronephrosis | 9.78 (9.54–10.03) |
8.62 (8.32–8.92) |
-1.5% (-2.3% to -0.6%) |
-2.3% (-3.5% to -1.0%) |
The diagnostic criteria must be standardised before the estimates of prevalence or trend are interpreted. |
| 13: Limb reduction defects | 4.50 (4.33–4.67) |
4.49 (4.31–4.67) |
-2.8% (-4.2% to -1.5%) |
-3.6% (-5.1% to -2.2%) |
There appears to be a decreasing trend. |
| 14: Club foot–talipes equinovarus | 10.84 (10.58–11.10) |
10.36 (9.96–10.77) |
1.3% (0.4% to 2.1%) |
0.5% (-0.9% to 1.9%) |
The increasing trend is likely to have resulted from changes in reporting rather than a true increase in prevalence. |
| 15: Syndactyly | 4.86 (4.69–5.04) |
3.77 (3.59–3.96) |
-2.8% (-4.1% to -1.5%) |
-4.2% (-5.9% to -2.4%) |
The decreasing trend is likely to have resulted from improved coding rather than a true decrease in prevalence. |
| 16: Craniosynostosis | 1.79 (1.68–1.90) |
1.76 (1.65–1.87) |
4.6% (2.4% to 6.7%) |
4.0% (1.7% to 6.3%) |
The observed increasing trend is likely to have resulted from improved follow-up by the registries rather than a true increase in prevalence. |
| 17: Maternal infections resulting in malformations | 0.65 (0.59–0.72) |
1.19 (1.06–1.35) |
3.9% (0.4% to 7.4%) |
0.9% (-3.4% to 5.1%) |
The observed increasing trend is likely to have resulted from increased screening for CMV rather than a true increase in prevalence. |
a: Outliers are those registries whose prevalence is 5 times greater than the European prevalence or whose trends lie outside of the 99% CI (grey funnel) in panel C in Figs 2–10.
b: Severe CHD includes single ventricle, hypoplastic left heart, hypoplastic right heart, Ebstein anomaly, tricuspid atresia, pulmonary valve atresia, common arterial truncus, atrioventricular septal defects, aortic valve atresia/stenosis, transposition of great vessels, tetralogy of Fallot, total anomalous pulmonary venous return, and coarctation of aorta.