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. 2018 Sep 12;9(4):341–345. doi: 10.1007/s12687-018-0382-4

Table 1.

Classical studies of the birth prevalence of congenital disorders

Source Chromosomal disorders Congenital malformations Rare single-gene disorders
Neel (1958) +
Stevenson (1959) + + +
Stevenson et al. (1966) +
Trimble and Doughty (1974) + + +
Myrianthopoulos and Chung (1974) +
Ash et al. (1977) + + +
Hook and Hamerton (1977) +
Carter (1977) +
Czeizel and Sankaranarayanan (1984) + +

All studies include only disorders that cause death or disability in the absence of intervention