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	65.9	3.6	0.7	0.1	0.6		2.9	0.1	0.4	25.7
All neural tube defects	94.1	2.4					0.7	0.2		2.6
anencephalus	98.9	0.5								0.5
spina bifida	91.1	3.1					1.3	0.4		4.0
encephalocele	90.6	5.7								3.8
Congenital hydrocephalus	77.8	1.1	0.7		0.7		0.4			19.3
Muscular dystrophy	50.0	25.0								25.0
Duchenne MD		50.0								50.0
B: Eye Ear Face Neck	33.1	22.0	1.6	0.3	0.9	0.2	7.1	0.3	2.5	32.0
All eye	25.8	12.9	1.4	0.3	1.7	0.3	9.4	0.3	2.1	45.6
anophthalmos / microphthalmos	40.9	20.5					13.6			25.0
congenital cataract	1.7	13.8	5.2		1.7		15.5			62.1
anomalies surrounding structures	12.5	2.1					6.3			79.2
All ear	24.3	27.2					7.8			40.8
external ear anomalies	26.5	38.2								35.3
sensorineural hearing loss	30.8	34.6					26.9			7.7
C: Circulatory	32.5	13.9	6.5	2.8	3.6	0.2	8.9	0.1	1.0	30.4
Disordered circulation	23.8	20.3	11.2	2.1	9.1	1.4	22.4			9.8
All septal defects	26.0	15.6	8.0	2.9	3.6	0.1	9.3	0.1	0.9	33.5
ASD (all types)	32.3	22.2	8.5	3.2	5.3	0.3	9.0		1.3	18.0
VSD	20.4	15.1	8.5	3.1	3.7		9.9	0.2	0.8	38.4
AVSD	70.2	10.6	4.3	1.4			1.4		0.7	11.3
All complex cyanotic CHD	41.2	20.1	10.1	3.0	2.5		3.5		0.5	19.1
transposition great vessels	35.4	23.9	11.5	2.7	0.9		3.5		0.9	21.2
tetralogy of Fallot	48.8	15.1	8.1	3.5	4.7		3.5			16.3
All heart valve anomalies	33.9	17.9	6.0	3.3	5.7	0.6	11.3		0.2	21.1
pulmonary valve anomalies	32.0	16.9	7.3	3.7	5.9	0.5	13.2			20.5
tricuspid valve anomalies	51.5	13.4	4.1	1.0			7.2			22.7
mitral valve anomalies	42.2	17.8	2.2	2.2	8.9		4.4			22.2
aortic valve anomalies	31.5	18.2	6.1	4.8	7.3	0.6	10.9		0.6	20.0
All vessel anomalies	40.4	15.2	6.6	4.0	5.0		7.4	0.2	1.1	20.2
pulmonary artery anomalies	35.0	18.2	6.4	4.5	3.2		8.2		0.5	24.1
aorta anomalies	46.8	11.5	6.7	4.5	6.7		6.1	0.3	1.6	15.9
All chamber anomalies	65.0	8.6	5.8	2.0	0.7		2.0		2.4	13.3
hypoplastic left heart	86.8	5.0	3.3	0.8			0.8		0.8	2.5
hypoplastic right heart	76.9	15.4							7.7
Conduction anomalies	37.8	18.9	9.5	8.1	4.1		6.8			14.9
D: Respiratory	54.8	7.4	0.8	0.8	1.2		2.5	1.6	5.9	25.0
All airways	48.4	8.6	0.3	1.2	1.4		3.5	2.3	4.0	30.3
All lung	72.2	4.6	1.5		0.5		0.5	0.5	8.8	11.3
cystic anomalies	82.1	1.8								16.1
agenesis	76.9	2.6			2.6				12.8	5.1
hypoplasia	59.1	9.1	4.5						20.5	6.8
E: Digestive	43.4	20.2	4.5	0.6	0.3		3.3	0.5	2.1	25.2
All clefting	46.0	26.2	2.1	0.2	0.2		2.6	0.6	0.6	21.5
lips	53.7	27.2					0.6	1.2	0.6	16.7
alveolar	71.4	14.3					7.1			7.1
isolated cleft palate	21.9	30.6	5.7	0.4	0.4		5.3		0.4	35.5
cleft palate with cleft lip	68.0	20.2					0.9	0.9	0.9	9.2
All oesophagus / stomach	44.6	28.1	3.6		0.7		2.2		0.7	20.1
tracheo-oesophageal atresia, fistula, stenosis	41.0	31.1	4.1				1.6		0.8	21.3
All intestines	45.1	14.8	8.9	1.2	0.6		3.3	0.2	1.2	24.8
duodenal atresia	74.6	9.5	3.2	1.6						11.1
other small bowel atresias	48.0	12.0	18.0	2.0						20.0
large bowel atresias	47.9	23.3	4.8		0.7		6.2	0.7	2.7	13.7
Hirschsprung's disease	5.2	13.8	36.2	1.7			3.4			39.7
All digestive organs	48.4	5.5	2.3	1.6	0.8		4.7		11.7	25.0
bilary atresia	4.8	4.8	4.8	4.8	4.8		9.5			66.7
F: Urinary	53.3	3.2	0.2	0.6	0.3		1.5	0.2	1.2	39.4
All kidney	65.5	2.9	0.3	0.6	0.4		1.4	0.4	1.6	27.0
agenesis	74.1	4.9		1.2			1.2	0.6	1.9	16.0
hypoplasia	56.1	7.3		2.4			2.4	2.4	12.2	17.1
cystic	76.3	0.4		0.4			1.5		0.8	20.7
other specific kidney	61.6	3.7	0.8	0.4	1.2		2.0	0.4	1.6	28.2
All renal pelvis / ureters	48.0	1.1		0.5			1.5		0.6	48.3
pelviureteric obstruction	37.7	0.8		0.4			1.6		0.2	59.4
hydronephrosis, 10mm or over	84.2	2.0		1.0			1.5			11.3
All bladder / urethra	61.4	8.9	0.5	1.0	0.5		2.5	0.5	3.0	21.8
epispadias		25.0					12.5			62.5
G: Genital	9.1	17.2	1.6	0.1	0.4	0.1	9.3	0.1	0.4	61.8
Female	41.3	12.3	1.4				3.6		2.9	38.4
Male	5.7	17.6	1.7	0.1	0.4	0.1	9.9	0.1	0.2	64.3
hypospadias	4.1	21.9	1.4	0.1	0.4		12.4		0.1	59.5
Intersex	47.8	21.7					4.3			26.1
H: Endocrine, metabolic	21.3	9.5	2.8	0.5	0.7	3.0	14.2		1.9	46.2
All thyroid	10.3	10.3	3.1	1.0	1.0		11.3			62.9
hypothyroidism	10.3	10.3	3.1	1.0	1.0		11.3			62.9
Phenylketonuria							40.0			60.0
Cystic fibrosis	12.1	7.7	2.2	1.1		2.2	7.7			67.0
Adrenal	70.8	8.3	4.2				2.1		4.2	10.4
J: Blood, immune, lymphatic	7.6	1.9	1.3	0.6	1.3		7.6		0.6	79.0
Thalassaemia							5.3			94.7
Sickle cell							17.6			82.4
Immunodeficiency			100.0
K: Skin	62.2	12.2	2.0	0.2	0.5		3.7	0.2	1.2	17.8
Cystic hygroma	96.2	1.7						0.4	0.8	0.8
L: Limbs	26.4	22.0	1.8	0.6	1.0	0.1	8.2	0.3	1.7	38.0
All upper limb	41.0	32.6	0.1	0.1	0.1	0.1	2.2	0.7	2.3	20.6
polydactyly	11.4	48.3					3.0	0.3		36.9
syndactyly	25.9	45.9					1.2	1.2	1.2	24.7
reduction defects	64.0	22.2				0.3	1.7	1.3	3.7	6.7
All lower limb	27.8	14.2	2.4	0.8	1.3	0.1	10.1	0.3	1.6	41.4
polydactyly	26.4	40.5	1.7	0.8			0.8			29.8
syndactyly	5.6	29.3	0.9				2.8	0.5		60.9
reduction defects	74.4	9.4					1.0	1.0	3.9	10.3
dysplastic hip	3.4	6.3	2.7	0.2	0.9		10.1			76.5
non-postural talipes	69.7	12.4	2.6	0.4			2.3	0.4	4.5	7.7
Non limb-specific	25.2	43.3			0.4	0.4	2.8		2.0	26.0
M: Musculoskeletal	60.8	10.0	0.8	0.3	0.5	0.1	3.2	0.9	4.1	19.3
All abdominal wall defects	91.0	3.5						0.5	1.6	3.3
gastroschisis	94.3	1.9						1.3	1.9	0.6
exomphalos	93.4	4.2							0.6	1.8
All diaphragm	70.1	10.4	2.1	0.7	2.8		1.4		1.4	11.1
hernia / agenesis	71.3	11.0	1.5	0.7	2.9		1.5		1.5	9.6
All short stature	55.8	13.5	1.9				1.9		1.9	25.0
achondroplasia	47.1	29.4								23.5
All other specific musculoskeletal	50.3	11.6	0.8	0.3	0.3	0.2	4.6	1.1	5.7	24.9
skull, face & neck	43.1	15.0	0.7	0.7	0.4		6.3	1.5	7.0	25.3
thorax & trunk	72.9	6.6	0.6				2.2	1.7	7.7	8.3
spine & pelvis	72.1	8.2	0.4		0.4	0.4	2.6		3.0	12.9
N: Neoplastic	51.0	16.3	4.1	2.0	4.1		10.2		2.0	10.2
O: Genetic / multi-site disorders	58.8	10.1	1.6	0.4	0.5	0.3	2.3	2.4	0.6	22.7
All chromosomal	60.3	9.6	1.6	0.3	0.6	0.4	1.9	2.6	0.6	22.1
trisomy 21 - Down's syndrome	65.3	15.8	2.3	0.4	0.3		1.4	1.4	0.9	12.3
trisomy 18 - Edwards' syndrome	87.1	3.1	0.9				0.6	1.9	0.3	6.0
trisomy 13 - Patau's syndrome	73.3	3.0						5.2		18.5
triploidy / polyploidy	46.3				0.7			7.4	1.5	44.1
Turner's syndrome	60.9	5.2			0.6	1.1		3.4		28.7
Klinefelter's syndrome	75.0		3.1				6.3			15.6
other anomalies sex chromosomes	56.6	5.7	1.9	1.9	1.9	1.9	5.7			24.5
deletions	38.1	14.9	3.3	0.6	3.9	1.1	8.8	1.1	0.6	27.6
other chromosome anomalies	32.1	3.0	0.8	0.3	0.3	1.1	2.5	4.9	0.3	54.4
Other genetic disorder	33.7	17.1	2.9	1.7	1.7	0.6	10.3		0.6	31.4
P: Pregnancy related	43.0	10.4	3.0	0.4		0.4	1.7	1.7	3.5	35.7
R: Infectious	33.7	12.4	5.6				6.7	2.2	22.5	16.9
viral	46.7	10.0					10.0		13.3	20.0
bacterial			14.3				14.3		28.6	42.9
fungal
S: Suggestion of underlying anomaly	77.3	10.3	1.4	0.4	1.1		1.8	0.7	2.5	4.6
hydrops	94.8	1.0						0.5	2.6	1.0

Additional anomalies collected by SWCAR
pyloric stenosis	1.1		0.8	2.7	5.3		15.0			75.1
inguinal hernia	4.0	2.7	0.2	0.3	0.7		6.2			85.9
balanced translocation	70.6									29.4
café au lait spot		25.0	25.0							50.0
other branchial cleft malformations	50.0									50.0
hydronephrosis >=5mm <10mm	37.9	1.2	0.5	0.3	0.3		0.9		0.5	58.4
vesicoureteric reflux	72.6	3.2	1.1	1.1	1.1		5.3			15.8
congenital subluxation of hip	3.2	4.8		1.6	1.6		7.9			81.0