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Table 3 Absolute and relative risk of recurrent congenital anomaly in the second pregnancy for similar anomalies (i.e. from the same group) and dissimilar anomalies (i.e. from a different group), by congenital anomaly group/subtype in the first pregnancy

From: Risk estimates of recurrent congenital anomalies in the UK: a population-based register study

Congenital anomaly group/subtype in the first pregnancy Estimated second pregnancies From the same group (similar) From a different group (dissimilar)
Cases Absolute risk per 10,000 (95% CI) Relative risk (95% CI) P value Cases Absolute risk per 10,000 (95% CI) Relative risk (95% CI) P value
Isolated anomalies 5289 91 172 a (134-210) 19.90 a (15.46-24.39) <0.0001 99 185 a (146-225) 1.27 a (1.00-1.55) 0.05
Nervous system 744 14 188 (112-315) 12.41 (7.30-21.10) <0.0001 17 215 (132-348) 1.41 (0.87-2.29) 0.17
Neural tube defects 482 9 187 (97-355) 12.17 (6.31-23.47) <0.0001 7 145 (69-301) 0.95 (0.45-1.98) 0.90
Anencephaly 207 3 145 (47-443) 9.33 (3.01-28.88) 0.0002 5 242 (100-572) 1.58 (0.66-3.79) 0.30
Spina bifida 241 4 166 (62-434) 10.70 (4.01-28.52) <0.0001 2  
Hydrocephalus 98 1   4 408 (154-1040) 2.67 (1.02-6.99) 0.05
Microcephaly 52 3 581 (186-1670) 37.33 (12.25-113.7) <0.0001 2  
Cardiovascular 2282 45 197 (147-264) 3.61 (2.68-4.85) <0.0001 34 149 (107-208) 1.33 (0.95-1.86) 0.11
Ventricular septal defect (VSD) 966 23 238 (158-357) 4.32 (2.86-6.51) <0.0001 15 155 (94-257) 1.38 (0.83-2.29) 0.22
Atrial septal defect (ASD) 165 6 365 (164-792) 6.56 (2.97-14.49) <0.0001 2  
Pulmonary valve stenosis 198 3 152 (49-463) 2.72 (0.88-8.40) 0.09 1  
Coarctation of the aorta 122 3 247 (79-745) 4.42 (1.43-13.65) 0.01 1  
Orofacial clefts 398 8 201 (101-397) 32.34 (15.98-65.43) <0.0001 6 151 (68-332) 0.93 (0.42-2.06) 0.86
Cleft lip 103 1   3 291 (94-866) 1.80 (0.59-5.49) 0.30
Cleft lip and palate 154 5 325 (136-759) 51.44 (21.39-123.7) <0.0001 1  
Cleft palate 142 2   3 211 (68-636) 1.31 (0.43-4.01) 0.64
Digestive system 371 4 108 (41-284) 14.85 (5.53-39.85) <0.0001 8 216 (108-426) 1.34 (0.67-2.67) 0.41
Oesophageal atresia 53 0   2  
Diaphragmatic hernia 79 2   3 381 (123-1118) 2.36 (0.78-7.19) 0.13
Urinary 751 16 213 (131-345) 12.29 (7.50-20.15) <0.0001 18 240 (151-378) 1.60 (1.01-2.52) 0.05
Cystic kidney disease 145 5 344 (144-800) 19.41 (8.16-46.20) <0.0001 3 206 (67-621) 1.37 (0.45-4.20) 0.58
Limb 244 1   4 164 (62-429) 0.99 (0.37-2.63) 0.98
Musculoskeletal 47 0   4 858 (322-2094) 5.11 (1.98-13.22) 0.001
Syndromic anomalies 2072 59 285 a (209-362) 33.63 a (24.40-48.86) <0.0001 52 253 a (181-325) 1.74 a (1.24-2.23) 0.004
Chromosomal syndromes 1073 29 271 (189-388) 8.74 (6.06-12.60) <0.0001 18 170 (107-268) 1.24 (0.78-1.97) 0.35
Down syndrome 536 7 131 (62-272) 4.11 (1.96-8.62) 0.0003 8 149 (75-296) 1.09 (0.55-2.18) 0.80
Genetic syndromes and microdeletions 332 18 542 (344-845) 80.95 (49.98-131.1) <0.0001 13 391 (228-663) 2.43 (1.43-4.15) 0.002
DiGeorge syndrome 61 1   4 657 (247-1635) 4.08 (1.57-10.6) 0.005
Stickler syndrome 7 3 4326 (1319-7928) 590.8 (236.7-1475.0) <0.0001 0  
Other syndromes, sequences, etc. 209 3 143 (46-435) 32.61 (10.44-101.9) <0.0001 6 296 (134-643) 1.80 (0.82-3.98) 0.15
Other genetic anomalies 36 5 1389 (585-2952) 1929.5 (735.7-5060.4) <0.0001 1  
Multiple congenital anomalies 344 2   14 407 (242-677) 2.52 (1.50-4.22) 0.001
Any congenital anomaly 7362 150 204 a (169-239) 23.75 a (19.64-27.85) <0.0001 151 204 a (169-239) 1.40 a (1.16-1.64) 0.001
  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. Only those groups and subtypes with at least three cases of recurrent pregnancies are reported
  6. aEstimated from the weighted average of the group-specific prevalence ratios