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Table 2 Absolute and relative risk of recurrent congenital anomaly (of any group) in the second pregnancy, 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 pregnanciesb Cases Absolute risk per 10,000 (95% CI) Relative risk (95% CI) P value
Isolated anomalies 5289 190 357 (310-645) 2.17 (1.88-2.51) <0.0001
Nervous system 744 31 403 (283-571) 2.40 (1.69-3.42) <0.0001
Neural tube defects 482 16 332 (204-535) 1.97 (1.22-3.20) 0.007
Anencephaly 207 8 387 (193-761) 2.30 (1.15-4.57) 0.02
Encephalocele 34 2  
Spina bifida 241 6 249 (112-543) 1.48 (0.67-3.26) 0.34
Hydrocephalus 98 5 510 (213-1170) 3.03 (1.29-7.13) 0.01
Microcephaly 52 5 968 (402-2151) 5.74 (2.47-13.36) 0.0001
Eye 63 3 481 (155-1395) 2.85 (0.94-8.65) 0.07
Ear-face-neck 11 1  
Cardiovascular 2282 79 346 (278-431) 2.07 (1.66-2.58) <0.0001
Transposition of the great vessels 116 2  
Single ventricle 17 2  
Ventricular septal defect (VSD) 966 38 394 (287-538) 2.35 (1.71-3.22) <0.0001
Atrial septal defect (ASD) 165 8 487 (244-948) 2.89 (1.46-5.72) 0.003
Pulmonary valve stenosis 198 4 202 (76-531) 1.20 (0.45-3.19) 0.72
Aortic valve atresia/stenosis 100 3 301 (96-901) 1.79 (0.58-5.48) 0.31
Hypoplastic left heart 48 2  
Coarctation of the aorta 122 4 329 (123-854) 1.95 (0.74-5.17) 0.18
Respiratory 50 1  
Orofacial clefts 398 14 352 (209-586) 2.09 (1.25-3.50) 0.006
Cleft lip 103 4 388 (146-991) 2.30 (0.88-6.04) 0.01
Cleft lip and palate 154 6 390 (176-843) 2.32 (1.06-5.09) 0.04
Cleft palate 142 5 352 (147-820) 2.09 (0.88-4.96) 0.01
Digestive system 371 12 324 (185-562) 1.93 (1.10-3.37) 0.02
Oesophageal atresia 53 2  
Hirschsprung disease 45 2  
Diaphragmatic hernia 79 5 634 (266-1440) 3.77 (1.61-8.83) 0.003
Abdominal wall 218 3 138 (45-419) 0.82 (0.27-2.52) 0.73
Gastroschisis 172 3 174 (56-527) 1.03 (0.34-3.18) 0.96
Urinary 751 34 453 (325-628) 2.70 (1.94-3.76) <0.0001
Cystic kidney disease 145 8 550 (277-1063) 3.27 (1.66-6.42) 0.001
Genital 50 1  
Limb 244 5 205 (86-483) 1.22 (0.51-2.90) 0.65
Polydactyly 27 2  
Musculoskeletal 47 4 858 (322-2094) 5.09 (1.97-13.15) 0.001
Craniosynostosis 27 2  
Others 61 2  
Cystic hygroma 45 2  
Syndromic anomalies 2072 111 538 (448-645) 3.25 (2.70-3.91) <0.0001
Chromosomal syndromes 1073 47 441 (332-583) 2.63 (1.98-3.50) <0.0001
Down syndrome 536 15 280 (169-460) 1.66 (1.01-2.75) 0.05
Edward syndrome 95 4 433 (163-1099) 2.57 (0.98-6.72) 0.06
Klinefelter syndrome 26 2  
Turner syndrome 97 4 413 (155-1055) 2.45 (0.93-6.44) 0.07
Genetic syndromes and microdeletions 332 31 933 (663-1299) 5.57 (3.97-7.81) <0.0001
DiGeorge syndrome 61 5 822 (343-1840) 4.88 (2.09-11.40) 0.0004
Stickler syndrome 7 3 4326 (1319-7928) 25.39 (10.14-63.58) <0.0001
Skeletal dysplasias 77 2  
Osteogenesis imperfecta (type II) 28 2  
Other syndromes, sequences, etc. 209 9 439 (230-823) 2.61 (1.37-4.95) 0.004
Laterality disturbance syndromesa 28 2      
Noonan syndrome 14 2      
Other genetic anomalies 36 6 1667 (761-3269) 9.89 (4.72-20.73) <0.0001
Ichthyosis 15 2  
Neurofibromatosis 7 2  
Multiple congenital anomalies 344 16 466 (287-748) 2.77 (1.71-4.48) 0.0001
Any congenital anomaly 7362 301 408 (365-456) 2.52 (2.25-2.83) <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 risks are the mean across ten multiply imputed datasets
  3. Confidence intervals were derived from 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. The risks for groups and subtypes with at least three cases of recurrent pregnancies are reported
  6. aIncludes Ivemark syndrome, left atrial isomerism and situs inversus
  7. bEstimated second pregnancies during 1987–2010 in women with a first pregnancy during 1985–2008