Table 1.

Incidence of disease included in the mandatory National Newborn Screening Programme detected by blood and reported to National Registry of Congenital Defects and Rare Diseases (RNDCER) 2010–2013

Disease	Orphanet No.	Year started	Absolute cases	Incidence
Congenital hypothyroidism—CHa	ORPHA442	1994	48	1:3900
Phenylketonuria—PKUb	ORPHA716	2008	10	1:19,000
Congenital adrenal hyperplasia—CAHb	ORPHA418	2008	12	1:15,800
Cystic fibrosis—CFc	ORPHA586	2010	18	1:10,500
Medium-chain acyl CoA dehydrogenase deficiency—MCADDd	ORPHA42	2008	3	1:63,300

Cases reported to RNDCER during 2010–2013, total of newborns screened 190,053. Coverage 99.5 % of total births 191,008 47,420 (2010), 46,707 (2011), 48,200 (2012), 48,681 (2013)

^aUruguay (1994)

^bUruguay (2007)

^cUruguay (2009)

^dUruguay (2013)