Table 2.
Prevalence and distribution of congenital anomalies, overall and by pregnancy outcome
| Birth defects | Number | % | Prevalence per 10 000 births | Live births | Prevalence per 10 000 live birth | Stillbirth | ETOPFA | |||
| (total births=28 646) | No. | % | (total live births=28 376 | No. | % | No. | % | |||
| Any | 1179 | 100 | 412 | 1123 | 95.3 | 396 | 38 | 3.2 | 18 | 1.5 |
| Nervous system | 160 | 13.6 | 56 | 129 | 80.6 | 45.7 | 18 | 11.3 | 13 | 8.1 |
| Neural tube defects | 54 | 4.6 | 19 | 30 | 55.5 | 10.6 | 11 | 20.4 | 13 | 24.1 |
| Anencephalus | 26 | 2.2 | 9 | 7 | 26.9 | 2.5 | 8 | 30.8 | 11 | 42.3 |
| Encephalocele | 11 | 0.9 | 4 | 9 | 81.8 | 3.2 | 1 | 9.1 | 1 | 9.1 |
| Spina bifida | 17 | 1.4 | 6 | 14 | 82.4 | 4.9 | 2 | 11.8 | 1 | 5.9 |
| Hydrocephaly | 25 | 2.1 | 9 | 23 | 92.0 | 8.1 | 2 | 8.0 | ||
| Microcephaly | 28 | 2.4 | 10 | 24 | 85.7 | 8.5 | 4 | 14.3 | ||
| Eye | 33 | 2.8 | 12 | 33 | 100 | 11.6 | ||||
| Anophthalmus/microphthalmus | 11 | 0.9 | 4 | 11 | 100 | 3.9 | ||||
| Congenital cataract | 5 | 0.4 | 2 | 5 | 100 | 1.8 | ||||
| Congenital glaucoma | 9 | 0.8 | 3 | 9 | 100 | 3.2 | ||||
| Ear, face and neck | 7 | 0.6 | 2 | 7 | 100 | 2.5 | ||||
| Anotia/microtia | 7 | 0.6 | 2 | 7 | 100 | 2.5 | ||||
| Cardiac | 425 | 36.0 | 148 | 420 | 90.9 | 148 | 4 | 0.9 | ||
| Severe congenital heart defects* | 91 | 7.7 | 32 | 89 | 97.8 | 31.4 | 2 | 2.2 | ||
| Common arterial truncus | 3 | 0.3 | 1 | 3 | 100 | 1.1 | ||||
| Transposition of great vessels | 13 | 1.1 | 5 | 13 | 100 | 4.6 | ||||
| Single ventricle | 6 | 0.5 | 2 | 6 | 100 | 2.1 | ||||
| Atrioventricular septal defect | 17 | 1.4 | 6 | 15 | 88.2 | 5.3 | 2 | 11.8 | ||
| Tetralogy of Fallot | 15 | 1.3 | 5 | 15 | 100 | 5.3 | ||||
| Tricuspid atresia and stenosis | 4 | 0.3 | 1 | 4 | 100 | 1.4 | ||||
| Pulmonary valve stenosis | 22 | 1.9 | 8 | 21 | 95.5 | 7.4 | 1 | 4.5 | ||
| Pulmonary valve atresia | 9 | 0.8 | 3 | 9 | 100 | 3.2 | ||||
| Aortic valve atresia/stenosis | 5 | 0.4 | 2 | 5 | 100 | 1.8 | ||||
| Hypoplastic left heart | 15 | 1.3 | 5 | 15 | 100 | 5.3 | ||||
| Hypoplastic right heart | 5 | 0.4 | 2 | 5 | 100 | 1.8 | ||||
| Coarctation of aorta | 14 | 1.2 | 5 | 14 | 100 | 4.9 | ||||
| Total anomalous pulmonary venous return | 2 | 0.2 | 0.7 | 2 | 100 | 0.7 | ||||
| Ventricular septal defect | 171 | 14.5 | 60 | 171 | 100 | 60.2 | ||||
| Atrial septal defect | 214 | 18.2 | 74.7 | 214 | 100 | 75.4 | ||||
| Oro-facial clefts | ||||||||||
| Cleft lip with or without palate | 42 | 3.6 | 14.7 | 35 | 83.3 | 12.3 | 5 | 11.9 | 2 | 4.8 |
| Cleft palate only | 11 | 0.9 | 3.8 | 11 | 100 | 3.9 | ||||
| Respiratory | 33 | 2.8 | 11.5 | 33 | 100 | 11.6 | ||||
| Choanal atresia | 5 | 0.4 | 1.7 | 5 | 100 | 1.8 | ||||
| Digestive system | 74 | 6.3 | 25.8 | 71 | 95.9 | 25.0 | 3 | 4.1 | ||
| Esophageal atresia with/without fistula | 12 | 1.0 | 4.2 | 12 | 100 | 4.2 | ||||
| Ano-rectal atresia and stenosis | 26 | 2.2 | 9.1 | 25 | 96.2 | 8.8 | 1 | 3.8 | ||
| Diaphragmatic hernia | 18 | 1.5 | 6.3 | 16 | 88.9 | 5.6 | 2 | 11.1 | ||
| Abdominal wall defects | 7 | 0.6 | 2.4 | 6 | 85.7 | 2.1 | 1 | 14.3 | ||
| Gastroschesis | 2 | 0.2 | 0.7 | 1 | 50.0 | 0.4 | 1 | 50.0 | ||
| Omphalocele | 5 | 0.4 | 1.7 | 5 | 100 | 1.8 | ||||
| Urinary | 323 | 27.4 | 113 | 318 | 98.5 | 112.1 | 4 | 1.2 | 1 | 0.3 |
| Bilateral renal agenesis | 18 | 1.5 | 6.3 | 15 | 83.3 | 5.3 | 2 | 11.1 | 1 | 5.6 |
| Renal dysplasia | 60 | 5.1 | 21 | 58 | 96.7 | 20.4 | 2 | 3.3 | ||
| Congenital hydronephrosis | 194 | 16.5 | 67.7 | 194 | 100 | 68.4 | ||||
| Genital | 127 | 10.8 | 44.3 | 126 | 99.2 | 44.4 | 1 | 0.8 | ||
| Hypospadias | 108 | 9.2 | 37.7 | 108 | 100 | 38.1 | ||||
| Indeterminate sex | 3 | 0.3 | 1.0 | 2 | 66.7 | 0.7 | 1 | 33.3 | ||
| Limb | 99 | 8.4 | 34.6 | 92 | 92.9 | 32.4 | 4 | 4.0 | 3 | 3.0 |
| Limb deficiencies, all | 17 | 1.4 | 5.9 | 17 | 100 | 6.0 | ||||
| Upper limb deficiency | 12 | 1.0 | 4.2 | 12 | 100 | 4.2 | ||||
| Lower limb deficiency | 7 | 0.6 | 2.4 | 7 | 100 | 2.5 | ||||
| Clubfoot - talipes equinovarus | 19 | 1.6 | 6.6 | 15 | 78.9 | 5.3 | 2 | 10.5 | 2 | 10.5 |
| Hip dislocation and/or dysplasia | 24 | 2.0 | 8.4 | 23 | 95.8 | 8.1 | 1 | 4.2 | ||
| Polydactyly | 23 | 2.0 | 8.0 | 23 | 100 | 8.1 | ||||
| Syndactyly | 9 | 0.8 | 3.1 | 9 | 100 | 3.2 | ||||
| Musculoskeletal | 40 | 3.4 | 14 | 33 | 82.5 | 11.6 | 7 | 17.5 | ||
| Craniosynostosis | 6 | 0.5 | 2.1 | 6 | 100 | 2.1 | ||||
| Achondroplasia | 3 | 0.3 | 1 | 2 | 66.7 | 0.7 | 1 | 33.3 | ||
| Thanatophoric dysplasia | 2 | 0.2 | 0.7 | 2 | 100 | 0.7 | ||||
| Jeune syndrome | 2 | 0.2 | 0.7 | 1 | 50.0 | 0.4 | 1 | 50.5 | ||
| Other malformations | 42 | 3.6 | 14.7 | 40 | 95.2 | 14.1 | 1 | 2.4 | 1 | 2.4 |
| Situs inversus | 10 | 0.8 | 3.5 | 10 | 100 | 3.5 | ||||
| By underlying cause | ||||||||||
| Chromosomal | 82 | 7.0 | 8.6 | 79 | 96.3 | 27.8 | 3 | 3.7 | ||
| Down syndrome/trisomy 21 | 63 | 5.3 | 22 | 62 | 98.4 | 21.8 | 1 | 1.6 | ||
| Edward syndrome/trisomy 18 | 8 | 0.7 | 2.8 | 7 | 87.5 | 2.5 | 1 | 12.5 | ||
| Patau syndrome/trisomy 13 | 2 | 0.2 | 0.7 | 2 | 100 | 0.7 | ||||
| Turner syndrome | 3 | 0.3 | 1 | 2 | 66.7 | 0.7 | 1 | 33.3 | ||
| Wolff-Hirschhorn syndrome | 1 | 0.1 | 0.3 | 1 | 100 | 0.4 | ||||
| Genetic syndromes (including microdeletions) | 38 | 3.2 | 13.2 | 36 | 94.7 | 12.7 | 1 | 2.6 | 1 | 2.6 |
| Teratogenic (carbamazepine embryopathy) | 1 | 0.1 | 0.3 | 1 | 100 | 0.4 | ||||
| Conditions outside Q chapter of ICD-10 | ||||||||||
| Inborn error of metabolism | 37 | 3.1 | 12.9 | 37 | 100 | 13.0 | ||||
| Endocrine disorders | 7 | 0.6 | 0.2 | 7 | 100 | 2.5 | ||||
| Other | 11 | 0.9 | 4 | 11 | 100 | 3.9 | ||||
*Severe congenital heart disease (EUROCAT definition): common arterial trunk (Q200), double outlet right ventricle (Q201), transposition of great arteries (Q203), single ventricle (Q204), atrioventricular septal defect (AVSD) (Q212), tetralogy of Fallot (Q213), pulmonary valve atresia (Q220), Ebstein anomaly (Q225), hypoplastic right heart (Q226), aortic valve atresia and stenosis (Q230), mitral valve anomalies (Q232, Q233), hypoplastic left heart (Q234), coarctation of the aorta (Q251), aortic atresia / interrupted aortic arch (Q252), total anomalous pulmonary venous return (Q262).
ETOPFA, elective terminations of pregnancy for foetal anomalies; ICD10, International Statistical Classification of Diseases and Related Health Problems, 10th revision.