When case first suspected: Region

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Cases with more than one anomaly within a group are counted only once. Numbers refer to when cases including that anomaly, not necessarily the anomaly itself, were first suspected. Data are expressed as a percentage of all cases of that anomaly notified to us.

As cases may have more than one anomaly, the data cannot be interpreted to accurately reflect diagnosis dates for specific anomalies; this interpretation does however become more reliable when looking at more major anomalies, as they are often the first detected.

Region Antenatal At birth < 1
week		 1 - 4
weeks		 1 - 12
months		 > 12
months		 Postnatal
age not known		 At
abortion		 At
post mortem		 Not known
A: Neurological 71.5 3.2 0.7 0.1 0.7   1.9   0.7 21.2
All neural tube defects 96.1 2.3         1.0     0.7
anencephalus 99.2 0.8                
spina bifida 94.7 2.6         2.0     0.7
encephalocele 91.7 5.6               2.8
Congenital hydrocephalus 86.4   0.6   0.6         12.3
Muscular dystrophy 50.0 25.0               25.0
Duchenne MD   50.0               50.0
B: Eye Ear Face Neck 36.4 21.3 1.2 0.2 1.2   5.9 0.2 3.9 29.6
All eye 32.0 12.4 1.1 0.6 2.2   7.3 0.6 3.4 40.4
anophthalmos / microphthalmos 53.3 16.7         6.7     23.3
congenital cataract 3.0 18.2 6.1   3.0   15.2     54.5
anomalies surrounding structures 18.5 3.7               77.8
All ear 26.2 26.2         6.6     41.0
external ear anomalies 28.6 38.1               33.3
sensorineural hearing loss 41.7 33.3         25.0      
C: Circulatory 33.7 13.4 6.3 2.8 2.5 0.1 6.9 0.1 1.0 33.1
Disordered circulation 26.2 24.6 11.5 3.3 1.6 1.6 16.4     14.8
All septal defects 27.0 14.9 7.6 3.0 2.7   7.5 0.1 1.1 36.1
ASD (all types) 32.5 21.6 7.8 3.5 3.5   4.3   1.6 25.1
VSD 20.9 14.2 7.8 3.4 2.7   8.8 0.2 1.1 41.0
AVSD 69.1 11.3 5.2 2.1     1.0     11.3
All complex cyanotic CHD 40.9 18.1 11.0 3.1 1.6   3.9     21.3
transposition great vessels 32.9 22.4 10.5 3.9 1.3   2.6     26.3
tetralogy of Fallot 52.9 11.8 11.8 2.0 2.0   5.9     13.7
All heart valve anomalies 36.3 18.1 5.3 2.8 5.7   8.5     23.1
pulmonary valve anomalies 34.8 17.4 5.2 3.5 5.2   7.8     26.1
tricuspid valve anomalies 48.2 14.3 5.4 1.8     12.5     17.9
mitral valve anomalies 42.3 19.2 3.8 3.8 7.7         23.1
aortic valve anomalies 37.4 15.4 5.5 3.3 8.8   7.7     22.0
All vessel anomalies 39.2 15.6 6.6 3.4 5.1   6.3 0.2 1.2 22.4
pulmonary artery anomalies 35.1 20.1 6.5 3.9 2.6   3.9   0.6 27.3
aorta anomalies 44.6 11.3 6.4 3.9 7.4   6.9 0.5 2.0 17.2
All chamber anomalies 62.6 9.8 6.3 2.4 1.0   1.0   2.8 14.0
hypoplastic left heart 82.7 7.4 3.7 1.2         1.2 3.7
hypoplastic right heart 33.3 33.3             33.3  
Conduction anomalies 35.4 18.8 4.2 10.4 2.1   8.3     20.8
D: Respiratory 58.9 8.7 0.7 0.7 1.0   1.4 1.0 5.6 22.0
All airways 51.6 9.7   1.1 1.6   2.2 1.6 4.3 28.0
All lung 77.0 6.6 1.6           6.6 8.2
cystic anomalies 87.5 3.1               9.4
agenesis 80.6 3.2             12.9 3.2
hypoplasia 71.4 11.4 5.7           8.6 2.9
E: Digestive 42.9 21.6 3.8 0.5 0.3   2.8 0.2 2.8 25.1
All clefting 46.1 29.7 1.7 0.2 0.2   2.5 0.5 0.7 18.4
lips 47.8 38.9           1.1 1.1 11.1
alveolar 81.8 9.1         9.1      
isolated cleft palate 25.0 31.3 5.0 0.6 0.6   5.0   0.6 31.9
cleft palate with cleft lip 65.6 22.9         1.3 0.6 0.6 8.9
All oesophagus / stomach 43.7 25.3 5.7       2.3     23.0
tracheo-oesophageal atresia, fistula, stenosis 39.5 27.6 6.6       2.6     23.7
All intestines 43.8 15.4 6.9 0.6 0.6   2.7   1.8 28.1
duodenal atresia 76.9 7.7 2.6             12.8
other small bowel atresias 50.0 10.0 13.3             26.7
large bowel atresias 44.2 27.4 5.3   1.1   6.3   4.2 11.6
Hirschsprung's disease 4.9 14.6 24.4       7.3     48.8
All digestive organs 50.0 3.9 3.9 2.6     2.6   17.1 19.7
bilary atresia 10.0 10.0 10.0 10.0     10.0     50.0
F: Urinary 55.5 3.3 0.2 0.9 0.2   1.4 0.1 1.6 36.7
All kidney 68.1 3.4 0.2 0.8 0.2   1.0 0.2 2.0 24.0
agenesis 79.6 6.1   2.0         3.1 9.2
hypoplasia 60.0 6.7   3.3         13.3 16.7
cystic 80.7     0.6     1.1   1.1 16.5
other specific kidney 59.9 4.8 0.7   0.7   2.7 0.7 1.4 29.3
All renal pelvis / ureters 49.2 0.5   0.7     2.1   1.0 46.6
pelviureteric obstruction 36.5 0.3   0.6     2.3   0.6 59.7
hydronephrosis, 10mm or over 83.8 0.7   1.5     2.2     11.8
All bladder / urethra 63.4 9.0 0.7 1.5 0.7   1.5   4.5 18.7
epispadias   22.2               77.8
G: Genital 10.1 22.2 2.4 0.1 0.5 0.1 5.8   0.7 58.1
Female 44.9 12.4 2.2       4.5   4.5 31.5
Male 5.9 23.1 2.5 0.1 0.6 0.1 6.1   0.3 61.4
hypospadias 4.3 28.9 1.9 0.2 0.5   7.2   0.2 56.8
Intersex 57.9 26.3               15.8
H: Endocrine, metabolic 27.1 11.2 3.3 0.5 0.5 1.4 11.2   3.7 41.1
All thyroid 9.1 15.2 9.1 3.0     15.2     48.5
hypothyroidism 9.1 15.2 9.1 3.0     15.2     48.5
Phenylketonuria                   100.0
Cystic fibrosis 12.0 10.0       4.0 10.0     64.0
Adrenal 70.3 5.4 5.4       2.7   5.4 10.8
J: Blood, immune, lymphatic 11.4 3.4 2.3 1.1 1.1   2.3   1.1 77.3
Thalassaemia                   100.0
Sickle cell             7.1     92.9
Immunodeficiency     100.0              
K: Skin 61.3 14.3 1.7 0.4 0.8   1.3 0.4 2.1 17.6
Cystic hygroma 94.1 2.2           0.7 1.5 1.5
L: Limbs 26.8 23.5 2.0 0.9 1.1 0.1 6.0 0.2 1.9 37.5
All upper limb 40.3 34.1   0.2     1.5 0.4 3.0 20.6
polydactyly 12.6 49.5         0.5 0.5   36.8
syndactyly 24.6 50.9             1.8 22.8
reduction defects 61.9 24.7         2.6 0.5 4.1 6.2
All lower limb 28.5 15.0 2.8 1.2 1.6 0.1 7.6 0.2 1.8 41.2
polydactyly 28.0 44.0 2.7 1.3           24.0
syndactyly 6.1 39.4 1.5       1.5     51.5
reduction defects 76.4 8.7         1.6 0.8 4.7 7.9
dysplastic hip 3.7 4.1 4.4 0.4 0.4   4.8     82.2
non-postural talipes 69.0 12.4 3.1 0.7     2.4 0.3 4.8 7.2
Non limb-specific 25.6 46.4         3.0   0.6 24.4
M: Musculoskeletal 61.7 11.4 1.1 0.2 0.2   2.7 0.2 5.1 17.3
All abdominal wall defects 90.0 4.6           0.5 2.7 2.3
gastroschisis 92.2 2.2           1.1 3.3 1.1
exomphalos 92.4 5.7             1.0 1.0
All diaphragm 68.0 11.3 3.1   1.0   1.0   2.1 13.4
hernia / agenesis 69.9 11.8 2.2   1.1   1.1   2.2 11.8
All short stature 52.6 18.4 2.6       2.6   2.6 21.1
achondroplasia 42.9 35.7               21.4
All other specific musculoskeletal 52.9 12.5 0.9 0.4 0.2   4.0 0.2 7.1 21.9
skull, face & neck 46.0 16.9 0.7 0.7     4.3 0.4 7.9 23.0
thorax & trunk 68.1 5.3 0.9       1.8 0.9 11.5 11.5
spine & pelvis 75.2 7.1 0.7       2.8   4.3 9.9
N: Neoplastic 46.2 11.5 7.7 3.8 7.7   7.7   3.8 11.5
O: Genetic / multi-site disorders 60.3 11.9 2.0 0.5 0.8 0.5 2.2 2.9 0.8 18.3
All chromosomal 62.0 11.2 2.0 0.4 0.8 0.5 1.7 3.1 0.8 17.6
trisomy 21 - Down's syndrome 62.3 19.3 2.7 0.5 0.5   0.9 1.1 1.4 11.2
trisomy 18 - Edwards' syndrome 89.4 2.1 1.1       0.5 1.6   5.3
trisomy 13 - Patau's syndrome 76.9 2.6           6.4   14.1
triploidy / polyploidy 59.1       1.5     9.1   30.3
Turner's syndrome 64.8 6.6       1.1   6.6   20.9
Klinefelter's syndrome 78.3   4.3       4.3     13.0
other anomalies sex chromosomes 66.7 5.6 2.8 2.8 2.8   8.3     11.1
deletions 41.0 15.4 4.3 0.9 4.3 1.7 6.8 0.9 0.9 23.9
other chromosome anomalies 41.0 3.6 1.4 0.5 0.5 1.8 3.2 7.2 0.5 40.5
Other genetic disorder 33.0 20.4 2.9 1.0 2.9 1.0 10.7   1.0 27.2
P: Pregnancy related 43.3 11.7 2.5       3.3 0.8 5.8 32.5
R: Infectious 35.9 10.9         4.7 3.1 28.1 17.2
viral 36.8 15.8             21.1 26.3
bacterial             50.0   50.0  
fungal                    
S: Suggestion of underlying anomaly 72.2 11.2   0.5 0.5   1.1 1.1 3.7 9.6
hydrops 94.3 0.8           0.8 4.1  
                     
Additional anomalies collected by SWCAR
pyloric stenosis 0.9   0.4 4.0 8.0   17.3     69.5
inguinal hernia 5.6 3.0 0.2 0.6 1.1   5.8     83.8
balanced translocation 73.3                 26.7
café au lait spot   33.3 33.3             33.3
other branchial cleft malformations 100.0                  
hydronephrosis >=5mm <10mm 46.6 1.3 0.6 0.6 0.3   1.0   1.0 48.5
vesicoureteric reflux 74.1   1.7 1.7     5.2     17.2
congenital subluxation of hip       4.9 2.4   7.3     85.4