Table 2:

Live-birth prevalence of familiar chromosomal abnormalities and selected conditions included in newborn screening programs

ConditionPopulation-based live-birth prevalence
EstimatePer 10 000
Familiar chromosomal abnormalities
 Trisomy 21*1 in 75013.33
 Trisomy 18†1 in 50002.00
 Trisomy 13†1 in 16 0000.63
Selected conditions included in newborn screening‡
 Congenital hypothyroidism1 in 30003.33
 Cystic fibrosis1 in 36002.78
 Phenylketonuria1 in 12 0000.83
 SCID1 in 50 000 to 1 in 100 0000.1 to 0.2

  • Note: SCID = severe combined immunodeficiency.

  • ↵* Based on Canadian surveillance data (excluding Quebec) from 2005 to 2013. (24)

  • ↵† Based on data from the US National Library of Medicine Genetics home reference. (25)

  • ↵‡ Based on approximate prevalence in Ontario. (18)