From: Risk estimates of recurrent congenital anomalies in the UK: a population-based register study
Congenital anomaly group/subtype | First pregnancies | Second pregnancies | Relative reduction in prevalence | ||||||
---|---|---|---|---|---|---|---|---|---|
N | Prevalence per 10,000 (95% CI) | N | Prevalence per 10,000 (95% CI) | % | (95% CI) | P value | |||
Isolated anomalies | 7162 | 197.3 | (192.8-201.9) | 3360 | 112.1 | (108.4-116.0) | 43.2 | (40.8-45.4) | <0.0001 |
Nervous system | 989 | 27.2 | (25.6-29.0) | 467 | 15.6 | (14.2-17.0) | 42.8 | (36.2-48.8) | <0.0001 |
Neural tube defects | 649 | 17.9 | (16.6-19.3) | 309 | 10.3 | (9.2-11.5) | 42.3 | (34.0-49.6) | <0.0001 |
Anencephaly | 278 | 7.7 | (6.8-8.6) | 130 | 4.3 | (3.7-5.2) | 43.4 | (30.3-54.0) | <0.0001 |
Encephalocele | 47 | 1.3 | (1.0-1.7) | 27 | 0.9 | (0.6-1.3) | 30.4 | (-11.7-56.7) | 0.14 |
Spina bifida | 324 | 8.9 | (8.0-10.0) | 152 | 5.1 | (4.3-6.0) | 43.2 | (31.1-53.1) | <0.0001 |
Hydrocephalus | 127 | 3.5 | (2.9-4.1) | 53 | 1.8 | (1.4-2.3) | 49.5 | (30.4-63.3) | 0.0001 |
Microcephaly | 66 | 1.8 | (1.4-2.3) | 34 | 1.1 | (0.8-1.6) | 37.6 | (5.6-58.7) | 0.03 |
Eye | 81 | 2.2 | (1.8-2.8) | 35 | 1.2 | (0.8-1.6) | 47.7 | (22.2-64.8) | 0.002 |
Ear-face-neck | 13 | 0.4 | (0.2-0.6) | 5 | 0.2 | (0.1-0.4) | 53.4 | (-30.7-83.4) | 0.15 |
Cardiovascular | 3085 | 85.0 | (82.1-88) | 1619 | 54.0 | (51.5-56.7) | 36.4 | (32.5-40.1) | <0.0001 |
Transposition of the great vessels | 158 | 4.4 | (3.7-5.1) | 76 | 2.5 | (2.0-3.2) | 41.7 | (23.4-55.7) | 0.0002 |
Single ventricle | 22 | 0.6 | (0.4-0.9) | 11 | 0.4 | (0.2-0.7) | 39.4 | (-24.9-70.6) | 0.18 |
Ventricular septal defect (VSD) | 1300 | 35.8 | (33.9-37.8) | 672 | 22.4 | (20.8-24.2) | 37.4 | (31.3-43.0) | <0.0001 |
Atrial septal defect (ASD) | 221 | 6.1 | (5.3-6.9) | 121 | 4.0 | (3.4-4.8) | 33.7 | (17.2-46.9) | 0.0005 |
Pulmonary valve stenosis | 266 | 7.3 | (6.5-8.3) | 134 | 4.5 | (3.8-5.3) | 39.0 | (24.9-50.4) | <0.0001 |
Aortic valve atresia/stenosis | 133 | 3.7 | (3.1-4.4) | 73 | 2.4 | (1.9-3.1) | 33.5 | (11.6-50.0) | 0.006 |
Hypoplastic left heart | 69 | 1.9 | (1.5-2.4) | 48 | 1.6 | (1.2-2.1) | 15.8 | (-21.8-41.7) | 0.37 |
Coarctation of the aorta | 170 | 4.7 | (4.0-5.4) | 87 | 2.9 | (2.3-3.6) | 38.0 | (19.8-52.1) | 0.0004 |
Respiratory | 70 | 1.9 | (1.5-2.4) | 36 | 1.2 | (0.9-1.7) | 37.7 | (6.9-58.3) | 0.02 |
Orofacial clefts | 533 | 14.7 | (13.5-16.0) | 189 | 6.3 | (5.5-7.3) | 57.1 | (49.3-63.6) | <0.0001 |
Cleft lip | 141 | 3.9 | (3.3-4.6) | 51 | 1.7 | (1.3-2.2) | 56.2 | (39.7-68.2) | <0.0001 |
Cleft lip and palate | 206 | 5.7 | (4.9-6.5) | 71 | 2.4 | (1.9-3.0) | 58.3 | (45.3-68.1) | <0.0001 |
Cleft palate | 186 | 5.1 | (4.4-5.9) | 67 | 2.2 | (1.8-2.9) | 56.4 | (42.3-67.0) | <0.0001 |
Digestive system | 496 | 13.7 | (12.5-14.9) | 224 | 7.5 | (6.6-8.5) | 45.3 | (36.0-53.3) | <0.0001 |
Oesophageal atresia | 74 | 2.0 | (1.6-2.6) | 27 | 0.9 | (0.6-1.3) | 55.8 | (31.3-71.6) | 0.0004 |
Hirschsprung disease | 60 | 1.7 | (1.3-2.1) | 24 | 0.8 | (0.5-1.2) | 51.6 | (22.2-69.8) | 0.003 |
Diaphragmatic hernia | 111 | 3.1 | (2.5-3.7) | 57 | 1.9 | (1.5-2.5) | 37.8 | (14.4-54.8) | 0.004 |
Abdominal wall | 310 | 8.5 | (7.6-9.5) | 90 | 3.0 | (2.4-3.7) | 64.8 | (55.5-72.2) | <0.0001 |
Gastroschisis | 243 | 6.7 | (5.9-7.6) | 65 | 2.2 | (1.7-2.7) | 67.6 | (57.4-75.4) | <0.0001 |
Urinary | 1035 | 28.5 | (26.8-30.3) | 506 | 16.9 | (15.5-18.4) | 40.8 | (34.2-46.8) | <0.0001 |
Cystic kidney disease | 199 | 5.5 | (4.8-6.3) | 103 | 3.4 | (2.8-4.2) | 37.3 | (20.5-50.6) | 0.0002 |
Genital | 91 | 2.5 | (2.0-3.1) | 39 | 1.3 | (0.9-1.8) | 48.1 | (24.5-64.3) | 0.0009 |
Limb | 317 | 8.7 | (7.8-9.8) | 85 | 2.8 | (2.3-3.5) | 67.5 | (58.7-74.4) | <0.0001 |
Polydactyly | 38 | 1.1 | (0.8-1.5) | 16 | 0.5 | (0.3-0.9) | 49.0 | (8.6-71.6) | 0.03 |
Musculoskeletal | 60 | 1.7 | (1.3-2.1) | 23 | 0.8 | (0.5-1.2) | 53.6 | (24.9-71.3) | 0.002 |
Craniosynostosis | 34 | 0.9 | (0.7-1.3) | 11 | 0.4 | (0.2-0.7) | 60.8 | (22.7-80.1) | 0.008 |
Others | 81 | 2.2 | (1.8-2.8) | 38 | 1.3 | (0.9-1.7) | 43.2 | (16.5-61.4) | 0.005 |
Cystic hygroma | 60 | 1.7 | (1.3-2.1) | 25 | 0.8 | (0.6-1.2) | 49.5 | (19.5-68.4) | 0.005 |
Syndromic anomalies | 2837 | 78.2 | (75.4-81.1) | 1530 | 51.1 | (48.6-53.7) | 34.7 | (30.5-38.6) | <0.0001 |
Chromosomal syndromes | 1488 | 41.0 | (39.0-43.1) | 914 | 30.5 | (28.6-32.5) | 25.6 | (19.2-31.5) | <0.0001 |
Down syndrome | 741 | 20.4 | (19.0-21.9) | 450 | 15.0 | (13.7-16.5) | 26.5 | (17.3-34.6) | <0.0001 |
Edward syndrome | 134 | 3.7 | (3.1-4.4) | 109 | 3.7 | (3.0-4.4) | 1.5 | (-26.8-23.5) | 0.91 |
Klinefelter syndrome | 37 | 1.0 | (0.7-1.4) | 20 | 0.7 | (0.4-1.1) | 34.5 | (-12.8-62.0) | 0.13 |
Turner syndrome | 138 | 3.8 | (3.2-4.5) | 64 | 2.1 | (1.7-2.7) | 43.8 | (24.5-58.2) | 0.0002 |
Genetic syndromes and microdeletions | 433 | 11.9 | (10.9-13.1) | 213 | 7.1 | (6.2-8.1) | 40.4 | (29.8-49.4) | <0.0001 |
DiGeorge syndrome | 83 | 2.3 | (1.9-2.8) | 33 | 1.1 | (0.8-1.5) | 51.8 | (27.9-67.8) | 0.0006 |
Stickler syndrome | 9 | 0.2 | (0.1-0.5) | 6 | 0.2 | (0.1-0.4) | 19.3 | (-126.8-71.3) | 0.69 |
Skeletal dysplasias | 106 | 2.9 | (2.4-3.5) | 57 | 1.9 | (1.5-2.5) | 34.9 | (10.1-52.8) | 0.010 |
Osteogenesis imperfecta (type II) | 38 | 1.0 | (0.8-1.4) | 24 | 0.8 | (0.5-1.2) | 23.5 | (-27.5-54.1) | 0.31 |
Other syndromes, sequences, etc. | 296 | 8.2 | (7.3-9.2) | 131 | 4.4 | (3.7-5.2) | 46.4 | (34.2-56.4) | <0.0001 |
Laterality disturbance syndromesa | 40 | 1.1 | (0.8-1.5) | 17 | 0.6 | (0.3-0.9) | 48.5 | (9.2-70.8) | 0.02 |
Noonan syndrome | 17 | 0.5 | (0.3-0.8) | 9 | 0.3 | (0.1-0.6) | 35.9 | (-43.8-71.4) | 0.28 |
Other genetic anomalies | 54 | 1.5 | (1.1-1.9) | 25 | 0.8 | (0.6-1.2) | 43.9 | (9.9-65.1) | 0.02 |
Ichthyosis | 22 | 0.6 | (0.4-0.9) | 7 | 0.2 | (0.1-0.5) | 61.5 | (9.8-83.5) | 0.03 |
Neurofibromatosis | 11 | 0.3 | (0.2-0.6) | 6 | 0.2 | (0.1-0.4) | 33.9 | (-78.6-75.6) | 0.42 |
Multiple congenital anomalies | 461 | 12.7 | (11.6-13.9) | 197 | 6.6 | (5.7-7.5) | 48.2 | (38.9-56.2) | <0.0001 |
Any congenital anomaly | 9999 | 275.5 | (270.2-280.9) | 4890 | 163.2 | (158.7-167.8) | 40.8 | (38.7-42.7) | <0.0001 |