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 |