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Table 1 Prevalence of congenital anomaly in the first and second pregnancies and relative reduction in prevalence, by group and subtype

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
  1. Congenital anomaly groups (e.g. nervous system) and combined groups (i.e. isolated anomalies, syndromic anomalies and any congenital anomaly) are presented in bold text, while congenital anomaly subtypes within the groups are presented in regular text
  2. Counts, prevalence proportions and relative reductions are the mean across ten multiply imputed datasets
  3. Confidence intervals were estimated using a logit transformation from the summary standard errors, which were combined using Rubin’s rule
  4. Congenital anomaly groups and subtypes are classified in accordance with EUROCAT guidelines [24, 25]
  5. aIncludes Ivemark syndrome, left atrial isomerism and situs inversus