Table 4.
Main sources of data used for estimating survival with optimal care and no care
| Intermediate bundle | Diagnostic group | Optimal survival | Recorded to age | No-care survival |
|---|---|---|---|---|
| Neural tube defects | Anencephaly | Lethal | Lethal | |
| Spina bifida and encephalocele | Hunt and Oakeshott (2003) Bowman et al. (2001) Tennant et al. (2010) |
30 years 20 years 20 years |
Lorber (1971), Laurence and Tew (1971) | |
| Orofacial clefts | Cleft palate Cleft lip +/− cleft palate |
Christensen et al. (2004) | Lifetime | (Mossey and Modell 2012) |
| Congenital heart disease (CHD) | Very severe CHD | Wren and O'Sullivan (2001), Tennant et al. (2010) Wren et al. (2012) |
20 years | Macmahon and McKeown (1953), Campbell (1968), Campbell et al. (1957), Baylis and Campbell (1956) |
| Severe CHD | ||||
| Other congenital malformations | CNS not neural tube defect | Tennant et al. (2010) Skjaerven et al. (1999) Lie et al. (2001) |
20 years Lifetime Lifetime |
Expert opinion |
| Eye | ||||
| Ear, face, neck | ||||
| Respiratory system | ||||
| Digestive system | ||||
| Abdominal wall defects | ||||
| Urinary system | ||||
| Multiple malformations | ||||
| Genital system | ||||
| Limb | ||||
| Congenital hypothyroidism | Assumed normal | Assumed <20 years | ||
| Pyloric stenosis | Lethal | |||
| Down syndrome | Down syndrome | Baird and Sadovnick (1988) Baird and Sadovnick (1987) Frid et al. (2004) |
Lifetime 1 year |
Penrose (1949), Carter and Maley (1958), Stevenson (1959) |
| Other severe autosomal abnormalities | Other trisomies (+13, +18) | Wu et al. (2013) | 5 years | Lethal |
| Other autosomal | Estimated 10% < Down | Estimated 10% < Down | ||
| Sex chromosome disorders | Turner syndrome (XO) | Price et al. (1986) Stochholm et al. (2006) |
60 years | Mortality est. 2× optimal care |
| Klinefelter syndrome (XXY) | Bojesen et al. (2004) | Lifetime | Bojesen et al. (2004) | |
| Rare single-gene disorders | Dominant | Costa et al. (1985) | Lifetime | Baird et al. (1988) |
| X-linked | ||||
| Recessive disorders | ||||
| Consanguinity-associatedd disorders | Recessive disorders | Bundey and Alam (1993) | 5 yr. | Bittles and Neel (1994) |
| Common autosomal recessive disorders | Sickle cell disorders | Platt et al. (1994) | Lifetime | Fleming et al. (1979) |
| Thalassaemia | Modell et al. (2000), Modell et al. (2008) | 45 | Modell and Berdoukas (1984) | |
| Genetic risk factors | Rhesus haemolytic disease | Bhutani et al. (2013) | Assumed normal | Stevenson (1959) |
| G6PDd kernicterus | World Health Organization (1985b), Bhutani et al. (2013) | World Health Organization (1985b) | ||