Background
Methods
Study population
Inclusion and exclusion criteria
Identification of recurrent cases
Definitions and classification of congenital anomalies
Statistical analysis
Results
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
|
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
|
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
|
Congenital anomaly group/subtype in the first pregnancy | Risk, as natural frequency (95% CI) | |||||
---|---|---|---|---|---|---|
Any congenital anomaly | From the same group (similar) | From a different group (dissimilar) | ||||
Isolated anomalies
|
1 in 28
|
(24-32)
|
1 in 58
|
(48-75)
|
1 in 54
|
(44-69)
|
Nervous system
|
1 in 25
|
(18-35)
|
1 in 53
|
(32-90)
|
1 in 47
|
(29-68
b
)
|
Neural tube defects | 1 in 30 | (19-49) | 1 in 54 | (28-103) | 1 in 65a
| (33-65b) |
Anencephaly | 1 in 26 | (13-52) | 1 in 69 | (23-215) | 1 in 41 | (17-63b) |
Spina bifida | 1 in 40 | (18-61b) | 1 in 60 | (23-161) | ||
Hydrocephalus | 1 in 20 | (9-47) | 1 in 25 | (10-62b) | ||
Microcephaly | 1 in 10 | (5-25) | 1 in 17 | (6-54) | ||
Cardiovascular
|
1 in 29
|
(23-36)
|
1 in 51
|
(38-68)
|
1 in 67
a
|
(48-92)
|
Ventricular septal defect (VSD) | 1 in 25 | (19-35) | 1 in 42 | (28-63) | 1 in 64a
| (39-71b) |
Atrial septal defect (ASD) | 1 in 21 | (11-41) | 1 in 27 | (13-61) | ||
Pulmonary valve stenosis | 1 in 49 | (19-61b) | 1 in 66 | (22-205) | ||
Aortic valve atresia/stenosis | 1 in 33 | (11-61b) | 1 in 50 | (13-201) | ||
Coarctation of the aorta | 1 in 30 | (12-61b) | 1 in 41 | (13-127) | ||
Orofacial clefts
|
1 in 28
|
(17-48)
|
1 in 50
|
(25-99)
|
1 in 64
a
|
(30-64
b
)
|
Cleft lip | 1 in 26 | (10-61b) | 1 in 34 | (12-62b) | ||
Cleft lip and palate | 1 in 26 | (12-57) | 1 in 31 | (13-74) | ||
Cleft palate | 1 in 28 | (12-61b) | 1 in 47 | (16-62b) | ||
Digestive system
|
1 in 31
|
(18-54)
|
1 in 93
|
(35-246)
|
1 in 46
|
(23-64
b
)
|
Diaphragmatic hernia | 1 in 16 | (7-38) | 1 in 26 | (9-62b) | ||
Abdominal wall
|
1 in 61
a
|
(24-61
b
)
|
1 in 62
a
|
(28-62
b
)
| ||
Gastroschisis | 1 in 57 | (19-61b) | 1 in 62a
| (22-62b) | ||
Urinary
|
1 in 22
|
(16-31)
|
1 in 47
|
(29-76)
|
1 in 42
|
(26-66
b
)
|
Cystic kidney disease | 1 in 18 | (9-36) | 1 in 29 | (12-70) | 1 in 48 | (16-63b) |
Limb
|
1 in 49
|
(21-61
b
)
|
1 in 61
a
|
(23-62
b
)
| ||
Polydactyly | 1 in 14 | (4-55) | 1 in 14 | (4-55) | ||
Musculoskeletal
|
1 in 12
|
(5-31)
|
1 in 12
|
(5-31)
| ||
Syndromic anomalies
|
1 in 19
|
(15-22)
|
1 in 35
|
(28-48)
|
1 in 40
|
(31-55)
|
Chromosomal syndromes
|
1 in 23
|
(17-30)
|
1 in 37
|
(26-53)
|
1 in 59
|
(37-75
b
)
|
Down syndrome | 1 in 36 | (22-59) | 1 in 77 | (37-160) | 1 in 67a
| (34-67b) |
Edward syndrome | 1 in 23 | (9-61) | ||||
Turner syndrome | 1 in 24 | (9-61b) | ||||
Genetic syndromes and microdeletions
|
1 in 11
|
(8-15)
|
1 in 18
|
(12-29)
|
1 in 26
|
(15-44)
|
DiGeorge syndrome | 1 in 12 | (5-29) | 1 in 15 | (6-40) | ||
Stickler syndrome | 1 in 2 | (1-8) | 1 in 2 | (1-8) | ||
Other syndromes, sequences, etc.
|
1 in 23
|
(12-43)
|
1 in 70
|
(23-216)
|
1 in 34
|
(16-63
b
)
|
Other genetic anomalies
|
1 in 6
|
(3-13)
|
1 in 7
|
(3-17)
| ||
Multiple congenital anomalies
|
1 in 21
|
(13-35)
|
1 in 25
|
(15-41)
| ||
Any congenital anomaly
|
1 in 24
|
(22-27)
|
1 in 49
|
(42-59)
|
1 in 49
|
(42-59)
|