Table 3.
Number and Prevalence of Specific Congenital Anomalies by Sex and Male to Female (M:F) Prevalence Ratiosa
| Male |
Female |
Prevalence ratio |
||||||
|---|---|---|---|---|---|---|---|---|
| N | Prevalence (per 10,000 births) | 95% CI | N | Prevalence (per 10,000 births) | 95% CI | M:F | 95% CI | |
| Nervous system | ||||||||
| Hydrocephaly | 253 | 6.2 | (5.5, 7.0) | 182 | 4.7 | (4.1, 5.5) | 1.31 | (1.09, 1.59) |
| Microcephaly | 191 | 4.7 | (4.0, 5.4) | 181 | 4.7 | (4.0, 5.4) | 1.00 | (0.81, 1.22) |
| Neural tube defects | 61 | 1.5 | (1.1, 1.9) | 75 | 1.9 | (1.5, 2.4) | 0.77 | (0.55, 1.08) |
| Spina bifida | 50 | 1.2 | (0.9, 1.6) | 57 | 1.5 | (1.1, 1.9) | 0.83 | (0.57, 1.21) |
| Encephalocele | 11 | 0.3 | (0.1, 0.5) | 16 | 0.4 | (0.2, 0.7) | 0.65 | (0.30, 1.40) |
| Eye | ||||||||
| Congenital cataract | 82 | 2.0 | (1.6, 2.5) | 79 | 2.0 | (1.6, 2.6) | 0.98 | (0.72, 1.34) |
| Ano' / microphthalmos | 67 | 1.6 | (1.3, 2.1) | 56 | 1.5 | (1.1, 1.9) | 1.13 | (0.79, 1.61) |
| Anophthalmos | 10 | 0.2 | (0.1, 0.5) | 5 | 0.1 | (0.0, 0.3) | 1.89 | (0.65, 5.53) |
| Congenital glaucoma | 33 | 0.8 | (0.6, 1.1) | 28 | 0.7 | (0.5, 1.0) | 1.11 | (0.67, 1.84) |
| Ear, face, and neck | ||||||||
| Anotia | 6 | 0.1 | (0.1, 0.3) | <5 | – | – | 5.67 | (0.68, 47.1) |
| Heart | ||||||||
| Ventricular septal defect | 1,411 | 34.6 | (32.8, 36.4) | 1,379 | 35.7 | (33.9, 37.7) | 0.97 | (0.90, 1.04) |
| Severe CHD | 617 | 15.1 | (13.9, 16.4) | 418 | 10.8 | (9.8, 11.9) | 1.40 | (1.23, 1.58) |
| Coarctation of aorta | 159 | 3.9 | (3.3, 4.6) | 101 | 2.6 | (2.1, 3.2) | 1.49 | (1.16, 1.91) |
| Tetralogy of Fallot | 156 | 3.8 | (3.2, 4.5) | 131 | 3.4 | (2.8, 4.0) | 1.13 | (0.89, 1.42) |
| Transposition of great vessels | 102 | 2.5 | (2.0, 3.0) | 45 | 1.2 | (0.9, 1.6) | 2.14 | (1.51, 3.04) |
| Atrioventricular septal defect | 51 | 1.2 | (0.9, 1.6) | 56 | 1.5 | (1.1, 1.9) | 0.86 | (0.59, 1.26) |
| Hypoplastic left heart | 35 | 0.9 | (0.6, 1.2) | 12 | 0.3 | (0.2, 0.5) | 2.76 | (1.43, 5.31) |
| Pulmonary valve atresia | 29 | 0.7 | (0.5, 1.0) | 18 | 0.5 | (0.3, 0.7) | 1.52 | (0.85, 2.74) |
| Total anom pulm venous return | 23 | 0.6 | (0.4, 0.8) | 17 | 0.4 | (0.3, 0.7) | 1.28 | (0.68, 2.39) |
| Ebstein anomaly | 8 | 0.2 | (0.1, 0.4) | 15 | 0.4 | (0.2, 0.6) | 0.50 | (0.21, 1.19) |
| Common arterial truncus | 5 | 0.1 | (0.0, 0.3) | <5 | – | – | 4.73 | (0.55, 40.5) |
| Atrial septal defect | 460 | 11.3 | (10.3, 12.3) | 596 | 15.4 | (14.2, 16.7) | 0.73 | (0.65, 0.82) |
| Aortic valve atresia/stenosis | 74 | 1.8 | (1.4, 2.3) | 33 | 0.9 | (0.6, 1.2) | 2.12 | (1.41, 3.20) |
| Pulmonary valve stenosis | 53 | 1.3 | (1.0, 1.7) | 51 | 1.3 | (1.0, 1.7) | 0.98 | (0.67, 1.44) |
| Hypoplastic right heart | 7 | 0.2 | (0.1, 0.4) | <5 | – | – | 1.65 | (0.48, 5.65) |
| Respiratory | ||||||||
| Choanal atresia | 29 | 0.7 | (0.5, 1.0) | 30 | 0.8 | (0.5, 1.1) | 0.91 | (0.55, 1.52) |
| Cystic adenomatous malf lung | 5 | 0.1 | (0.0, 0.3) | <5 | – | – | 1.18 | (0.32, 4.40) |
| Cleft lip or palate | ||||||||
| Cleft lip with/out palate | 384 | 9.4 | (8.5, 10.4) | 223 | 5.8 | (5.0, 6.6) | 1.63 | (1.38, 1.92) |
| Cleft palate | 263 | 6.4 | (5.7, 7.3) | 288 | 7.5 | (6.6, 8.4) | 0.86 | (0.73, 1.02) |
| Digestive system | ||||||||
| Hirschsprung's disease | 112 | 2.7 | (2.3, 3.3) | 45 | 1.2 | (0.9, 1.6) | 2.35 | (1.67, 3.33) |
| Anorectal | 105 | 2.6 | (2.1, 3.1) | 68 | 1.8 | (1.4, 2.2) | 1.46 | (1.08, 1.98) |
| Esophageal atresia | 62 | 1.5 | (1.2, 1.9) | 42 | 1.1 | (0.8, 1.5) | 1.40 | (0.94, 2.07) |
| Oth. parts sm intestine | 27 | 0.7 | (0.4, 1.0) | 32 | 0.8 | (0.6, 1.2) | 0.80 | (0.48, 1.33) |
| Diaphragmatic hernia | 15 | 0.4 | (0.2, 0.6) | 8 | 0.2 | (0.1, 0.4) | 1.77 | (0.75, 4.18) |
| Duodenal | 13 | 0.3 | (0.2, 0.5) | 26 | 0.7 | (0.4, 1.0) | 0.47 | (0.24, 0.92) |
| Abdominal wall defects | ||||||||
| Gastroschisis | 74 | 1.8 | (1.4, 2.3) | 85 | 2.2 | (1.8, 2.7) | 0.82 | (0.60, 1.12) |
| Omphalocele | 33 | 0.8 | (0.6, 1.1) | 23 | 0.6 | (0.4, 0.9) | 1.36 | (0.80, 2.31) |
| Urinary system | ||||||||
| Hydronephrosis | 154 | 3.8 | (3.2, 4.4) | 52 | 1.3 | (1.0, 1.8) | 2.80 | (2.05, 3.83) |
| Renal dysplasia | 78 | 1.9 | (1.5, 2.4) | 35 | 0.9 | (0.6, 1.3) | 2.11 | (1.41, 3.14) |
| Bladder exstrophy/epispadias | 77 | 1.9 | (1.5, 2.4) | 11 | 0.3 | (0.1, 0.5) | 6.62 | (3.52, 12.5) |
| Posterior urethral valve | 49 | 1.2 | (0.9, 1.6) | <5 | – | – | 23.2 | (5.63, 95.3) |
| Genital | ||||||||
| Hypospadias | 2,581 | 63.2 | (60.8, 65.7) | <5 | – | – | 814 | (262, 2520) |
| Limb | ||||||||
| Club foot | 632 | 15.5 | (14.3, 16.7) | 468 | 12.1 | (11.1, 13.3) | 1.28 | (1.13, 1.44) |
| Hip dislocation/dysplasia | 366 | 9.0 | (8.1, 9.9) | 1,318 | 34.1 | (32.3, 36.0) | 0.26 | (0.23, 0.29) |
| Polydactyly | 312 | 7.6 | (6.8, 8.5) | 211 | 5.5 | (4.8, 6.3) | 1.40 | (1.17, 1.67) |
| Syndactyly | 223 | 5.5 | (4.8, 6.2) | 136 | 3.5 | (3.0, 4.2) | 1.55 | (1.25, 1.92) |
| Limb reduction | 133 | 3.3 | (2.7, 3.9) | 129 | 3.3 | (2.8, 4.0) | 0.97 | (0.77, 1.24) |
| Lower limb reduction | 70 | 1.7 | (1.3, 2.2) | 89 | 2.3 | (1.9, 2.8) | 0.74 | (0.54, 1.02) |
| Upper limb reduction | 49 | 1.2 | (0.9, 1.6) | 29 | 0.8 | (0.5, 1.1) | 1.60 | (1.01, 2.53) |
| Limb reduction other | 18 | 0.4 | (0.3, 0.7) | 13 | 0.3 | (0.2, 0.6) | 1.31 | (0.64, 2.67) |
| Arthrogryposis multi congenital | 10 | 0.2 | (0.1, 0.5) | 9 | 0.2 | (0.1, 0.4) | 1.05 | (0.43, 2.59) |
| Musculoskeletal | ||||||||
| Craniosynostosis | 137 | 3.4 | (2.8, 4.0) | 35 | 0.9 | (0.6, 1.3) | 3.70 | (2.55, 5.37) |
| Achondroplasia | 37 | 0.9 | (0.6, 1.2) | 23 | 0.6 | (0.4, 0.9) | 1.52 | (0.90, 2.56) |
| Other | ||||||||
| Disorders of skin | 133 | 3.3 | (2.7, 3.9) | 89 | 2.3 | (1.9, 2.8) | 1.41 | (1.08, 1.85) |
| Situs inversus | 16 | 0.4 | (0.2, 0.6) | 14 | 0.4 | (0.2, 0.6) | 1.08 | (0.53, 2.21) |
| Asplenia | 9 | 0.2 | (0.1, 0.4) | 7 | 0.2 | (0.1, 0.4) | 1.22 | (0.45, 3.26) |
| Chromosomal | ||||||||
| Down syndrome | 407 | 10.0 | (9.0, 11.0) | 371 | 9.6 | (8.7, 10.6) | 1.04 | (0.90, 1.19) |
| Wolf-Hirschhorn synd | 9 | 0.2 | (0.1, 0.4) | 6 | 0.2 | (0.1, 0.3) | 1.42 | (0.50, 3.99) |
| Edward syndrome | <5 | – | – | 10 | 0.3 | (0.1, 0.5) | 0.38 | (0.12, 1.21) |
| Patau syndrome | <5 | – | – | 5 | 0.1 | (0.0, 0.3) | 0.76 | (0.20, 2.82) |
a
Only CAs with at least ten cases are included in the table. Where the number of cases in a single sex is less than five, the PR has been displayed but the number and sex prevalence censored.