Disease | TOF | AVSD | DORV | TGA | SV | HLHS | PTA | HRHS | HS | PA | VSD | LSVC | COA/IAA | AS | PS | VR | Total number |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Digestive system malformations | 56 | 62 | 55 | 22 | 39 | 9 | 31 | 7 | 15 | 6 | 128 | 7 | 10 | 15 | 6 | 5 | 473 |
Esophageal atresia | 14 | 17 | 15 | 5 | 10 | 2 | 14 | Â | 8 | Â | 36 | 1 | 3 | 6 | 1 | 1 | 133 |
Duodenal atresia/stenosis | 15 | 24 | 14 | 3 | 3 | Â | 7 | 1 | 4 | 1 | 41 | 3 | 4 | 2 | Â | 2 | 124 |
Persistent right umbilical vein | 12 | 12 | 16 | 8 | 22 | 5 | 8 | 1 | 2 | 4 | 22 | Â | 2 | 3 | 1 | 2 | 120 |
Hyperechoic bowel | 7 | 5 | 8 | 4 | 3 | 1 | 1 | 5 | 1 | 1 | 18 | 3 | 1 | 4 | 4 | Â | 66 |
Bowel dilatation | 8 | 4 | 2 | 2 | 1 | 1 | 1 | Â | Â | Â | 11 | Â | Â | Â | Â | Â | 30 |
CNS malformations | 136 | 177 | 142 | 40 | 48 | 32 | 46 | 20 | 15 | 3 | 427 | 29 | 44 | 37 | 14 | 12 | 1222 |
Dandy-walker | 25 | 37 | 21 | 10 | 6 | 8 | 12 | 5 | 3 | 1 | 58 | 2 | 10 | 7 | 2 | 3 | 210 |
Choroid plexus cysts | 9 | 42 | 35 | 1 | 4 | 1 | 2 | 1 | 3 | Â | 92 | 3 | 3 | 4 | 1 | Â | 201 |
Medulla oblongata broadening | 19 | 16 | 18 | 10 | 7 | 6 | 4 | 3 | Â | Â | 77 | 3 | 7 | 7 | 2 | 2 | 181 |
Lateral ventricle broadening | 17 | 26 | 14 | 4 | 8 | 5 | 4 | 5 | 3 | 2 | 52 | 11 | 6 | 6 | 3 | 5 | 171 |
Hydrocephalus | 16 | 11 | 16 | 5 | 3 | 1 | 9 | 3 | 1 | Â | 34 | 1 | 1 | 4 | 2 | 1 | 108 |
Holoprosencephaly | 19 | 19 | 16 | 3 | 13 | 6 | 7 | Â | 3 | Â | 34 | 4 | 7 | 3 | Â | 1 | 135 |
Agenesis of corpus callosum | 7 | 13 | 6 | 2 | 1 | 2 | 1 | Â | 2 | Â | 23 | 3 | 4 | 4 | 2 | Â | 70 |
Spina bifida | 10 | 7 | 7 | 4 | 4 | 2 | 5 | 2 | Â | Â | 21 | Â | 4 | Â | Â | Â | 66 |
Arachnoid cyst | 8 | 1 | 4 | 1 | Â | 1 | Â | Â | Â | Â | 13 | 2 | 2 | Â | 2 | Â | 34 |
Spinal meningocele | 5 | 3 | 3 | Â | 1 | Â | 2 | 1 | Â | Â | 11 | Â | Â | Â | Â | Â | 26 |
Septum pellucidum broadening | 1 | 2 | 2 | Â | 1 | Â | Â | Â | Â | Â | 12 | Â | Â | 2 | Â | Â | 20 |
Fetal appendage malformations | 137 | 112 | 138 | 31 | 51 | 35 | 54 | 23 | 22 | 1 | 241 | 47 | 31 | 28 | 12 | 8 | 971 |
Single umbilical artery | 128 | 103 | 113 | 30 | 48 | 34 | 47 | 21 | 22 | 1 | 205 | 47 | 28 | 26 | 11 | 8 | 872 |
Cyst of cord | 9 | 9 | 25 | 1 | 3 | 1 | 7 | 2 | Â | Â | 36 | Â | 3 | 2 | 1 | Â | 99 |
Skeletal system malformations | 52 | 88 | 68 | 16 | 24 | 13 | 27 | 7 | 15 | 1 | 196 | 11 | 13 | 12 | 3 | 1 | 547 |
Abnormal handing posture | 8 | 23 | 16 | 2 | 3 | 2 | 5 | 1 | 3 | Â | 61 | 1 | 5 | 7 | Â | Â | 137 |
Talipes equinovarus | 16 | 27 | 18 | 7 | 8 | 4 | 5 | Â | 4 | Â | 50 | 3 | 4 | Â | 1 | Â | 147 |
Absent radius | 16 | 29 | 21 | 4 | 4 | 3 | 6 | 1 | 3 | Â | 50 | 1 | Â | 3 | Â | Â | 141 |
Scoliosis | 4 | 2 | 6 | 2 | 6 | 2 | 5 | Â | 3 | 1 | 15 | 1 | Â | 1 | 1 | Â | 49 |
Hemipyramid | 5 | 2 | 2 | 1 | 3 | Â | 4 | 1 | Â | Â | 10 | 5 | 1 | Â | 1 | 1 | 36 |
Achondroplasia | 3 | 5 | 5 | Â | Â | 2 | 2 | 4 | 2 | Â | 10 | Â | 3 | 1 | Â | Â | 37 |
Craniofacial anomalies | 88 | 96 | 84 | 17 | 23 | 22 | 28 | 10 | 15 | 4 | 219 | 9 | 20 | 13 | 9 | 2 | 659 |
Labial fold | 43 | 32 | 38 | 12 | 9 | 13 | 16 | 3 | 4 | 2 | 89 | 4 | 12 | 9 | 5 | 1 | 292 |
Nasal bone agenesis | 17 | 30 | 9 | 2 | 4 | 5 | 7 | 2 | 4 | 1 | 57 | 1 | 1 | 3 | 1 | Â | 144 |
Micrognathia | 9 | 19 | 15 | 1 | 5 | Â | 4 | 2 | 2 | 1 | 32 | 1 | 5 | Â | 1 | Â | 97 |
Eye span long/short | 9 | 10 | 14 | 1 | 3 | 3 | 1 | 3 | 2 | Â | 19 | 3 | 1 | 1 | 2 | 1 | 73 |
Ear deformity | 10 | 5 | 8 | 1 | 2 | 1 | Â | Â | 3 | Â | 22 | Â | 1 | Â | Â | Â | 53 |
Fetal hydrops | 54 | 74 | 48 | 12 | 40 | 84 | 16 | 25 | 8 | 7 | 135 | 15 | 18 | 22 | 16 | Â | 574 |
Skin dropsy / Separate cystic hygroma | 25 | 36 | 23 | 5 | 16 | 41 | 7 | 7 | 3 | 1 | 64 | 5 | 7 | 10 | 6 | 0 | 256 |
Hydrothorax/Ascites | 29 | 38 | 25 | 7 | 24 | 43 | 9 | 18 | 5 | 6 | 71 | 10 | 11 | 12 | 10 | 0 | 318 |
Urogenital system malformations | 99 | 70 | 83 | 29 | 48 | 34 | 32 | 14 | 12 | 1 | 172 | 26 | 26 | 21 | 22 | 9 | 698 |
Hydronephrosis | 22 | 16 | 15 | 7 | 9 | 11 | 4 | 2 | 1 | Â | 31 | 6 | 8 | 4 | 4 | 3 | 143 |
Polycystic kidney | 18 | 12 | 19 | 1 | 11 | 5 | 9 | 5 | 2 | Â | 33 | 4 | 3 | 5 | 6 | 2 | 135 |
Renal agenesis | 25 | 9 | 15 | 3 | 5 | 3 | 7 | 3 | Â | Â | 38 | 8 | 1 | 8 | 7 | Â | 132 |
Horseshoe kidney | 7 | 3 | 6 | Â | Â | 5 | 1 | Â | 1 | 1 | 18 | 3 | 3 | 1 | 1 | Â | 50 |
Duplex kidney | 3 | 4 | 3 | Â | 2 | 2 | Â | Â | Â | Â | 4 | 3 | 2 | 1 | 2 | 2 | 28 |
Diaphragmatic hernia | 15 | 18 | 16 | 11 | 18 | 3 | 9 | 2 | 4 | Â | 35 | 1 | 4 | 2 | Â | 1 | 139 |
Pulmonary hypoplasia | 8 | 5 | 5 | 6 | Â | 5 | 1 | 2 | 2 | Â | 9 | Â | 3 | Â | 2 | Â | 48 |
Congenital cystic adenomatoid malformation | 1 | 3 | 4 | 1 | 3 | 0 | 1 | Â | 2 | Â | 4 | 1 | 2 | Â | Â | 1 | 23 |
Abdominal-wall defects | 29 | 27 | 30 | 6 | 10 | 9 | 12 | 2 | 1 | Â | 60 | 4 | 2 | 2 | Â | Â | 194 |
Omphalocele | 27 | 23 | 23 | 4 | 7 | 9 | 11 | 1 | 1 | Â | 52 | 3 | 2 | 2 | Â | Â | 165 |
Gastroschisis | 2 | 4 | 7 | 2 | 3 | Â | 1 | 1 | Â | Â | 8 | 1 | Â | Â | Â | Â | 29 |
Total (n = 5,338) | 651 | 706 | 648 | 173 | 283 | 238 | 246 | 108 | 103 | 23 | 1,578 | 148 | 164 | 150 | 82 | 37 | 5,338 |