Table 6.
Major category | Diagnostic group | Mean life expectancy, years | Years gained per affected person | |
---|---|---|---|---|
No care | Optimal care | |||
Congenital malformations | Anencephaly | 0 | 0 | 0 |
Spina bifida and encephalocele | 0.5 | 41.2 | 40.7 | |
Cleft palate Cleft lip +/− cleft palate |
4.4 | 73 | 68.6 | |
Very severe CHD | ||||
Severe CHD | 2 | 6.6 | 4.6 | |
CNS not neural tube defect | 15.8 | 63.6 | 47.8 | |
Eye | 0.5 | 42.5 | 42 | |
Ear, face, neck | 39.6 | 74.7 | 35.1 | |
Respiratory system | 72.2 | 72.2 | 0 | |
Digestive system | 15.6 | 51 | 35.4 | |
Abdominal wall defects | 3.8 | 63.3 | 59.5 | |
Urinary system | 0.5 | 65.1 | 64.6 | |
Multiple malformations | 10.6 | 69.3 | 58.7 | |
Genital system | 0.5 | 37.5 | 37 | |
Limb | 76.7 | 76.7 | 0 | |
Congenital hypothyroidism | 69.8 | 74.2 | 4.4 | |
Pyloric stenosis | 11.5 | 80 | 68.5 | |
Chromosomal disorders | Down syndrome | 0.5 | 80 | 79.5 |
Other trisomies (+13, +18) | 7.7 | 50.6 | 42.9 | |
Other autosomal | 0.1 | 0.1 | 0 | |
Turner syndrome (XO) | 6.9 | 45.6 | 38.7 | |
Klinefelter syndrome (XXY) | 56.8 | 67.8 | 11 | |
Inherited disorders | Dominant | 66.4 | 66.4 | 0 |
X-linked | 1.3 | 17.6 | 16.3 | |
Recessive disorders | 12.1 | 39.4 | 27.3 | |
Consanguinity-associated recessive disorders | 6.7 | 28.1 | 21.4 | |
Sickle cell disorders | 6.7 | 28.1 | 21.4 | |
Thalassaemia | 3 | 41.5 | 38.5 | |
Oculocutaneous albinism | 2.4 | 65.1 | 62.7 | |
Rhesus haemolytic disease | 30 | 70 | 40 | |
G6PDd kernicterus | 1.9 | 80 | 78.1 |