Table 1.
Number of FAOD detected in the participating Iberian NBS programs and estimated birth prevalences, as well as in other NBS programs with available data reported
| Region | Screened newborns | Fatty acid β-oxidation disorders | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Iberia | SCADD | MCADD | VLCADD | LCHADD | MADD | CPT1 | CPT2 | CUD | Overall | |||||||||
| Portugal | 812,902 | Not screened | 97 | 1/8,380 | 8 | 1/101,613 | 7 | 1/116,129 | 3 | 1/270,967 | 2 | 1/406,451 | 3 | 1/270,967 | 8 | 1/101,613 | 1/6,351 | |
| Galicia | 278,371 | 5 | 1/55,674 | 14 | 1/19,884 | 0 | 0 | 3 | 1/92,790 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1/12,653 |
| Múrcia | 124,942 | 1 | 1/124,942 | 3 | 1/41,647 | 0 | 0 | 2 | 1/62,471 | 1 | 1/124,942 | 0 | 0 | 0 | 0 | 1 | 1/124,942 | 1/15,618 |
| Western Andalucia | 272,462 | 3 | 1/90,981 | 15 | 1/18,196 | 0 | 0 | 0 | 0 | 1 | 1/272,462 | 1 | 1/272,462 | 0 | 0 | 1 | 1/272,462 | 1/12,997 |
| Aragón/La Rioja | 54,901 | 1 | 1/54,901 | 3 | 1/18,300 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1/13,725 |
| Eastern Andalucia | 128,228 | 3 | 1/42,743 | 8 | 1/16,029 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3 | 1/42,743 | 2 | 1/60,114 | 1/8,014 |
| Overall | 1,672,286 | 13 | 1/66,106 | 140 | 1/11,945 | 8 | 1/209,036 | 12 | 1/139,357 | 5 | 1/334,457 | 3 | 1/557,429 | 6 | 1/278,714 | 11 | 1/139,357 | 1/7.914 |
| (95% CI: 1/113,111–1/38,634) | (95% CI: 1/14,093–1/10,122) | (95% CI: 1/415,522–1/105,923) | (95% CI: 1/243,603–1/79,720) | (95% CI: 1/783,014–1/142,860) | (95% CI: 1/1,639,060–1/189,576) | (95% CI: 1/608,135–1/127,737) | (95% CI: 1/272,250–1/84,891) | (95% CI: 1/9,054–1/6,916) | ||||||||||
| Austria (Kasper et al. 2010) | 622,489 | 1/155,622 | 1/24,900 | 1/88,927 | 1/69,165 | 1/311,245 | 0 | 0 | 1/311,245 | 1/12,704 | ||||||||
| Germany (Lindner et al. 2011) | 583,555a/1,084,195b | 1/64,839a | 1/14,0808b | 1/180,699b | 1/216,839b | 1/194,517a | 1/1,084,195b | 1/1,084,195b | 1/194,518a | 1/9,198 | ||||||||
| Denmark (Lund et al. 2012) | 190,287a/504,049b/363,538c | 1/190,287a | 1/9,164b | 1/168,016b | 1/168,016b | 0c | 1/363,538c | 0c | 1/100,810b | 1/7,691 | ||||||||
| Italyd | 640,707 | 1/27,857 | 1/22,882 | 1/45,765 | 1/640,707 | 0 | 1/640,707 | 1/640,707 | 1/128,141 | 1/8,777 | ||||||||
| Greece (Loukas et al. 2010) | 45,000 | 0 | 1/45,000 | 0 | 0 | 0 | 0 | 0 | 0 | 1/45,000 | ||||||||
| Switzerland (Rhead 2006) | 57,000 | 1/11,500 | ||||||||||||||||
| UK (Oerton et al. 2011) | 1,500,000 | 1/10,204 | ||||||||||||||||
| Belgium(Bodamer and Pollitt 2005) | 120,000 | 1/15,000 | ||||||||||||||||
| Netherlands (Derks et al. 2008) | 182,850 | 1/9,624 | ||||||||||||||||
| USA | ||||||||||||||||||
| New England (Zytkovicz et al. 2001) | 164,000 | 1/32,800 | 1/16,400 | 1/164,000 | 0 | 0 | 0 | 1/164,000 | 0 | 1/9,647 | ||||||||
| North Carolina (Frazier et al. 2006) | 944,078 | 1/118,010 | 1/12,933 | 1/78,673 | 1/314,693 | 0 | 0 | 1/472,039 | 0 | 1/9,633 | ||||||||
| California (Feuchtbaum et al. 2006; Gallant et al. 2012) | 353,894a/2,632,058b | 1/34,632b | 1/27,223a | 1/353,894a | 1/353,894a | 1/176,947a | 0 | 0 | 0 | 1/13,002 | ||||||||
| Michigane | 708,257 | 1/16,097 | 1/13,620 | 1/88,532 | 1/708,257 | 1/354,129 | 0 | 1/708,257 | 1/354,129 | 1/6,439 | ||||||||
| Western USA (Merritt et al. 2014) | 2,802,504 | 1/53,894 | ||||||||||||||||
| New York (Arnold et al. 2010) | ±1,501,022 | 1/24,210 | ||||||||||||||||
| Japan (Bodamer and Pollitt 2005) | 102,000 | 1/51,000 | ||||||||||||||||
| Saudi Arabia (Al-Hassnan et al. 2010) | 237,812 | 1/18,293 | ||||||||||||||||
| Australia (Wilcken et al. 2003) | 362,000 | 1/72,400 | 1/21,294 | 1/120,667 | 0 | 0 | 0 | 0 | 1/120,667 | 1/12,929 | ||||||||
a-crefer to the number of screened newborns in a given population
dData from Italy was extracted from national NBS reports from 2006 to 2012 (available on http://www.simmesn.it/it/documents/rt_screening/index.html; Accessed on December 2013)
eData from the Michigan NBS program was extracted from program reports from 2006 to 2011 (available on www-michigan.gov/mdch/0,1607,7-132-2942_2950-233593-,00.html, accessed on September 2013). CI confidence interval, calculated using Wilson’s score method