Table 1.
Country | Complete National Data? | Sample Size | 1/Incidence | PPV % (Term Infants or Overall) | Reference |
---|---|---|---|---|---|
Argentina (Buenos Aires) | No | 80,436 | 8937 | 50 | (2) |
Australia (Western Australia)a | No | 550,153 | 14,869 | N/A | (3) |
Australia (New South Wales) | No | 185,854 | 15,488 | 1.8 | (4) |
Australiaa | Yes | 18,034 | N/A | (4) | |
Brazil | No | 748,350 | 14,967 | (5) | |
Brazil (state of Goias) | No | 82,603 | 10,325 | 28.6 | (6) |
Brazil (state of Minas Gerais) | No | 159,415 | 19,927 | 2.1 | (7) |
Brazil (state of Rio Grande do Sul) | No | 108,409 | 13,551 | 1.6 | (8) |
China | No | 30,000 | 6084 | (9) | |
Croatia | Yes | 532,942 | 14,403 | (10) | |
Cuba | Yes | 621,303 | 15,931 | 0.3 | (11) |
Czech Republic | Yes | 545,026 | 11,848 | 1.6 | (12) |
France | Yes | 6,012,798 | 15,699 | 2.3 | (13) |
Germany (Bavaria) | No | 1,420,102 | 12,457 | 5 | (14) |
India | No | 55,627 | 6334 | (15) | |
Japan (Sapporo) | No | 498,147 | 20,756 | 8 | (16) |
Japan (Tokyo) | No | 2,105,108 | 21,264 | 25.8 | (17) |
New Zealand | Yes | 1,175,988 | 26,727 | (18) | |
Sweden | Yes | 2,737,932 | 14,260 | 25.1 | (19) |
United Kingdoma | Yes | 18,248 | N/A | (20) | |
United Arab Emirates | Yes | 750,365 | 9030 | (21) | |
Uruguay | Yes | 190,053 | 15,800 | (22) |
Data are from newborn screening except those designated as coming from national case registries. Data are from studies published in 2008 and later. Earlier studies are summarized by van der Kamp and Wit 2004 (23) and Gidlof et al. 2014 (19).
Abbreviations: N/A, not available; PPV, positive predictive value (for newborn screening; see section 1).
Data are from national case registries.