When case first suspected: Region

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Caseswith more than one anomaly within a group are counted only once. Numbers refer to when a case including that anomaly, not necessarily the anomaly itself, was first suspected. 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, because they are normally the first detected.

Case first suspected: 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	Total
A: Neurological	442	19	5	1	5		10		5	112	599
All neural tube defects	247	5					3			2	257
anencephalus	109	1									110
spina bifida	113	3					3			1	120
encephalocele	31	1								1	33
Congenital hydrocephalus	116		1		1					15	133
Muscular dystrophy	2	1									3
Duchenne MD		1									1
B: Eye Ear Face Neck	124	75	4	1	5		12	1	14	101	337
All eye	46	21	2	1	4		5	1	5	63	148
anopthalmos / micropthalmos	13	5								6	24
congenital cataract	1	5	2		1		2			15	26
anomalies surrounding structures	3	1								18	22
All ear	12	13					2			19	46
external ear anomalies	5	5								3	13
sensorineural hearing loss	3	4					1				8
C: Circulatory	413	166	77	36	31	1	55	2	12	416	1209
Disordered circulation	11	12	4	2	1	1	4			9	44
All septal defects	206	112	55	24	20		36	1	9	275	738
ASD (all types)	72	45	13	8	7		7		4	63	219
VSD	115	78	42	20	16		30	1	6	223	531
AVSD	56	9	5	2			1			10	83
All complex cyanotic CHD	41	15	10	4	2		4			23	99
transposition great vessels	21	11	5	3	1		2			17	60
tetralogy of Fallot	20	4	5	1	1		2			6	39
All heart valve anomalies	79	44	14	5	12		14			48	216
pulmonary valve anomalies	32	15	5	3	4		8			23	90
tricuspid valve anomalies	23	7	3	1			3			8	45
mitral valve anomalies	7	5	1	1	1					5	20
aortic valve anomalies	27	14	5	1	7		3			13	70
All vessel anomalies	133	55	23	12	16		15	1	4	83	342
pulmonary artery anomalies	43	26	10	6	4		4		1	40	134
aorta anomalies	75	21	10	6	11		7	1	3	30	164
All chamber anomalies	150	24	16	7	2		2		5	33	239
hypoplastic left heart	56	6	2	1					1	3	69
hypoplastic right heart	1	1									2
Conduction anomalies	14	9	1	4	1		2			9	40
D: Respiratory	141	22	2	2	3		1	2	14	48	235
All airways	83	15		2	3		1	2	6	40	152
All lung	77	8	2						8	8	103
cystic anomalies	22	1								3	26
agenesis	21	1							4	1	27
hypoplasia	23	4	2						3	1	33
E: Digestive	333	172	27	5	3		21	2	22	186	771
All clefting	150	102	6	1	1		10	2	3	58	333
lips	37	29						1	1	9	77
alveolar	7	1					1				9
isolated cleft palate	33	41	7	1	1		8		1	40	132
cleft palate with cleft lip	78	32					2	1	1	9	123
All oesophagus / stomach	36	18	3				1			15	73
tracheo-oesophageal atresia, fistula, stenosis	28	18	3				1			13	63
All intestines	114	43	17	2	2		5		5	74	262
duodenal atresia	22	2	1							4	29
other small bowel atresias	10	3	2							7	22
large bowel atresias	32	24	5		1		3		3	13	81
Hirschsprung's disease	2	4	6				2			15	29
All digestive organs	36	3	3	2			2		11	12	69
bilary atresia	1	1	1	1			1			3	8
F: Urinary	409	25	2	6	2		9	1	13	251	718
All kidney	284	14	1	3	1		3	1	9	97	413
agenesis	67	5		1					2	7	82
hypoplasia	17	2		1					4	4	28
cystic	117			1			2		1	24	145
other specific kidney	70	5	1		1		2	1	2	35	117
All renal pelvis / ureters	172	2		2			8		4	143	331
pelviureteric obstruction	92	1		1			7		2	135	238
hydronephrosis, 10mm or over	91	1		2			2			14	110
All bladder / urethra	67	10	1	2	1		1		6	21	109
epispadias		2								4	6
G: Genital	86	188	24	1	5	1	34		6	434	779
Female	36	9	2				2		3	23	75
Male	42	176	22	1	5	1	32		3	409	691
hypospadias	23	153	12	1	3		22		1	273	488
Intersex	11	3								2	16
H: Endocrine, metabolic	53	19	6	1		2	16		8	59	164
All thyroid	3	4	2	1			3			7	20
hypothyroidism	3	4	2	1			3			7	20
Phenylketonuria	6	4				1	2			22	35
Cystic fibrosis	22	2	2				1		2	4	33
Adrenal
J: Blood, immune, lymphatic	9	3	1	1	1		1		1	52	69
Thalassaemia										8	8
Sickle cell							1			8	9
Immunodeficiency			1								1
K: Skin	127	29	4	1	2		2	1	4	33	203
Cystic hygroma	112	3						1	1	2	119
L: Limbs	371	331	32	15	19	1	72	2	28	482	1353
All upper limb	189	162		1			7	1	15	92	467
polydactyly	20	84					1			50	155
syndactyly	12	26							1	12	51
reduction defects	108	41					4	1	7	12	173
All lower limb	276	152	32	14	19	1	62	2	19	368	945
polydactyly	18	25	2	1						15	61
syndactyly	7	47	2				2			52	110
reduction defects	86	10					2	1	6	10	115
dysplastic hip	9	10	12	1	1		5			159	197
non-postural talipes	160	34	9	2			5	1	12	18	241
Non limb-specific	33	61					5		1	33	133
M: Musculoskeletal	422	82	8	2	1		18	1	40	114	688
All abdominal wall defects	158	10	1					1	6	5	181
gastroschisis	63	2						1	3		69
exomphalos	82	6	1						1	4	94
All diaphragm	52	10	2				1		2	11	78
hernia / agenesis	51	10	1				1		2	9	74
All short stature	16	5	1				1		1	6	30
achondroplasia	6	4								2	12
All other specific musculoskeletal	239	58	4	2	1		17		36	93	450
skull, face & neck	103	40	2	2			7		20	53	227
thorax & trunk	64	4					2		12	5	87
spine & pelvis	88	10	1				4		5	12	120
N: Neoplastic	8	4	2	1	2				1	2	20
O: Genetic / multi-site disorders	759	158	26	7	11	7	24	30	11	201	1234
All chromosomal	733	141	23	6	10	7	18	30	10	181	1159
trisomy 21 - Down's syndrome	321	106	15	3	3		5	5	8	46	512
trisomy 18 - Edwards' syndrome	146	4	2					3		6	161
trisomy 13 - Patau's syndrome	41	2						3		8	54
triploidy / polyploidy	32				1			4		13	50
Turner's syndrome	46	5				1		4		15	71
Klinefelter's syndrome	16						1			3	20
other anomalies sex chromosomes	19	1	1	1	1		2			2	27
deletions	37	16	3	1	5	2	5	1	1	23	94
other chromosome anomalies	81	8	2	1		4	5	10	1	66	178
Other genetic disorder	26	16	3	1	3	1	8		1	20	79
P: Pregnancy related	36	13	3				3	1	5	36	97
R: Infectious	19	5					3	2	18	12	59
viral	6	2							4	5	17
bacterial							1		1	1	3
fungal
S: Suggestion of underlying anomaly	110	21		1			1	2	5	14	154
hydrops	93	1						1	4		99

Additional anomalies collected by SWCAR For our own purposes SWCAR have decided to continue collection of the following anomalies on the EUROCAT exclusion list; they are not included in the overall data numbers/rates above.
pyloric stenosis	2		1	9	17		16			135	180
inguinal hernia	23	14	1	3	5		17			323	386
balanced translocation	11				1					5	17
café au lait spot		1	1							1	3
other branchial cleft malformations	1										1
hydronephrosis >=5mm <10mm	114	3	2	1	1		3		3	127	254
vesicoureteric reflux	37		1	1			2			10	51
congenital subluxation of hip				2	1		3			32	38