Appendix 1 Search Strategies Used in Major Electronic Bibliographic Databases

Web Appendix

Appendix 1 Search strategies used in major electronic bibliographic databases

Stage 1 Identification of all articles relevant to the evaluation of MS/MS screening programmes

CINAHL database
#1exp health screening/
#2exp infant, newborn/
#31 AND 2
#4neonat* ADJ2 screen*
#5newborn* ADJ2 screen*
#63 OR 4 OR 5
#7exp metabolism, inborn errors/
#8inborn ADJ2 error*
#97 OR 8
#106 AND 9
#11spectrum analysis/
#12mass ADJ2 spect*
#13ms ADJ2 spect*
#14tandem ADJ2 mass
#1511 OR 12 OR 13 OR 14
#1610 AND 15 / EMBASE

1exp newborn screening/
2neonat* ADJ2 screen*
3newborn* ADJ2 screen*
4exp mass screening/
5exp newborn/
6#4 AND #5
7#1 OR #2 OR #3 OR #6
8exp inborn-error-of-metabolism
9inborn ADJ2 error ADJ2 metabolism
10#8 OR #9
11#7 AND #10
12exp mass spectrometry/
13mass ADJ2 spect*
14ms ADJ2 spect*
15tandem ADJ2 mass
16#12 OR #13 OR #14 OR #15
17#11 AND #16
CRD database
CRD database search (NHS DARE, EED, HTA) via website
((neonat* AND screen*) OR (newborn AND screen*)) AND ((mass AND spect*) OR (ms AND spect*) OR (tandem AND spect*))
Web of knowledge Search Terms
Topic=(mass OR MS OR tandem) AND Topic=(spect*)
Timespan=All Years.
Databases SCI-EXPANDED, SSCI, A&HCI, CPCI-S.
Cochrane library
#1 Neonatal screening
#2 neonat* near/1 screen
#3 newborn* near/1 screen*
#4(#1 OR #2 OR #3) / Medline via Pubmed
1.Neonatal screening
2.Neonat* screen*
3.Newborn* screen*
4.Mass screening
5.Infant, newborn
6.#4 AND #5
7.#1 OR #2 or #3 OR #6
8.Metabolism, inborn errors
9.Inborn error*
10.#8 OR #9
11.#7 AND #10
12.Spectrum analysis, mass
13.Mass spect*
14.MS spect*
15.Tandem mass
16.#12 OR #13 OR #14 OR #15
17. #11 and #16

Stage 2 Search terms used to identify articles relating to epidemiology and screening for the five chosen diseases in PubMed (MEDLINE)

Glutaric acidaemia

glutarylcoa
glutarylaciduria
gcdh
ga 1
glutaric aciduria
glutaricacidemia
glutaric acidaemia
#1 OR #2 OR #3 OR #4 OR #5 OR #6 OR #7

/ Homocystinuria
1. Homocystinuria
2.Hypermethioninaemia
3.Hypermethioninemia
4.(cystathionine OR cbs) AND deficien*
5.#1 OR #2 OR #3 OR #4
Isovaleric acidaemia
1.isovaleric acidaemia
2.isovalericacidemia
3.isovaleric aciduria
4.ivddeficien*
5.isovaleric acid AND dehydrogenase deficien*
6.isovaleryl AND dehydrogenase deficien*
7.isovalericacidemia
8.isovalericacidaemia
9.#1 OR #2 OR #3 OR#4 OR #5 OR #6 OR #7 OR #8 / Maple syrup urine disease
1. maple syrup urine disease
2. msud
3. branched chain ketoaciduria
4. keto acid decarboxylase deficien*
5. #1 OR #2 OR #3 OR #4
Long chain hydroxacyl-CoA Dehydrogenase deficiency
1.trifunctional protein deficien*
2.3-hydroxyacyl coa dehydrogenase
3.multienzyme complexes
4.long chain AND dehydrogenase deficien*
5.lchad
6.hadhdeficien*
7.Hydroxacyl AND dehydrogenase
8. long chain
9.#7 AND #8
10.hydroxydicarboxylicaciduria
11.hydroxydicarboxylicaciiduroa
12.#1 OR #2 OR #3 OR # OR #4 OR #5 OR #6 OR #7 OR #8 OR #9 OR #10 OR #11 / Epidemiology terms

epidemiology
morbidity
mortality
survival analysis
disease
disease progression
natural history
epidemiolog*
genetic heterogeneity
incidence
prevalence
#1 OR #2 OR #3 OR #4 OR #5 OR #6 OR #9 OR #10 OR #11

Screening terms

neonatal screening
neonat* screen*
newborn* screen*
mass screening
infant, newborn
genetic screening
#4 AND#5 and #6
#1 OR #2 OR#3 OR #7
metabolism, inborn errors*
inborn error*
#9 or #10
#8 and #11

Appendix A

Table A1 Homocystinuria prevalence in MS/MS screened cohorts

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Australia, New South Wales and Australian Capital Territory / Wiley et al.a / Apr 1998-Dec 2012 / 1,430,227 / 5 / 286,045 / 0.35 / 14
Hungary / Burgard et al. (2012) / 2008-2009 / 60,429 / 1 / 60,429 / 1.65 / 9
Netherlands / Loeber et al. b / 2009 / 186,128 / 2 / 93,064 / 1.07 / 13
Portugal / Vilarinho et al. (2010) / 2005-2009 / 316,243 / 1 / 316,243 / 0.32 / 13
Spain / AECNE (Spanish NBS association) (2012)c / 2001-2011 / 808,149 / 8 / 101,019 / 0.99 / 8
USA, New England / Comeau et al. (2004) / Jan 1999-Jan 2003 / 472,255 / 1 / 472,255 / 0.21 / 10
USA, North Carolina / Frazier et al. (2006) / 1999-2005 / 749,695 / 2 / 374,848 / 0.27 / 15
USA, Pennsylvania and North Carolina / Chace et al. (2002) / Not presented / 1,100,000 / 1 / 1,100,000 / 0.09 / 7
USA, Texas / Tiwana et al. (2012) / 2007 / 400,000 / 3 / 133,333 / 0.75 / 7
Non-Western / Lebanon / Khneisser et al. (2008) / Nov 2006-Aug 2008 / 22,000 / 1 / 22,000 / 4.55 / 14
Mexico / Torres-Sepulveda et al. (2008) / Mar 2002-Feb 2004 / 42,264 / 1 / 42,264 / 2.37 / 14
Qatar / Gan-Shreieret al. (2010) / Jul 2006-Jun 2009 / 46,406 / 14 / 3,315 / 30.17 / 14
Qatar / Lindner et al. (2007) / Dec 2003-Jul 2006 / 25,214 / 2 / 12,607 / 7.93 / 10

aData from New South Wales screening programme, Australia (unpublished)

b Data from Netherlands screening programme (unpublished)

c Data collated by AECNE (Asociación Española de Cribado Neonatal) Presented at XVIII Reunion de los Centros de Cribado Neonatal Bilbao 2012

*minimum score 6, maximum score 6

Table A2 Homocystinuria prevalence in cohorts screened by alternate techniques

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Australia, New South Wales / Wilcken et al. (1980) / Not presented / 1,000,000 / 1 / 1,000,000 / 0.10 / 7
Austria / Naughten et al. (1998) / Not presented / 500,000 / 1 / 500,000 / 0.20 / 9
France / Scriver et al. (1985) / Not presented / 274,000 / 1 / 274,000 / 0.36
Germany, Federal Republic of Germany / Bickel (1987) / 1969-1984 / 5,180,071 / 43 / 120,467 / 0.83 / 8
Germany- Heidelberg (Baden-Wurttenberg) / Bickel (1987) / 1969-1984 / 940,369 / 3 / 313,456 / 0.32 / 8
Italy / Antonozzi et al. (1980) / 1978-1980 / 116,000 / 2 / 58,000 / 1.72 / 11
Ireland / Yap & Naughten (1998) / 1971-1996 / 1580000 / 25 / 63,200 / 1.58 / 12
New Zealand / Mudd et al. (1995) / Not presented / 957,834 / 2 / 478,917 / 0.21
Scotland / Mudd et al. (1995) / Not presented / 1,012,500 / 1 / 1,012,500 / 0.10
UK, London area / Whiteman et al. (1979) / May 1970-Dec 1977 / 670,674 / 3 / 223,558 / 0.45 / 12
UK, Manchester / Komrower et al. (1979) / 1968-1978 / 506,821 / 6 / 84,470 / 1.18 / 7
USA, New England / Peterschmitt el al. (1999) / Oct 1966-Dec 1998 / 3,300,000 / 16 / 206,250 / 0.48 / 12
Non-Western / Japan / Aoki et al. (2003) / 1977-1994 / 23,579,319 / 22 / 1,071,787 / 0.09 / 8
Taiwan / Hwu et al. (2003) / 1984-2000 / 4,015,939 / 16 / 250,996 / 0.40 / 7

*minimum score 6, maximum score 16

Table A3 Homocystinuria prevalence based on clinical detection

*minimum score 3, maximum score 7

Appendix B

Table B1 MSUD prevalence in MS/MS screened cohorts

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Austria / Kasper et al. (2010) / Apr 2002-Dec 2009 / 622,489 / 2 / 311,245 / 0.32 / 12
Denmark, Faroe Islands, Greenland / Lund et al. (2012) / 2002-2011 / 504,049 / 1 / 504,049 / 0.20 / 14
Germany / Nennstiel-Ratzel et al. (2010)a / 2004-2010 / 4,611,782 / 26 / 177,376 / 0.56 / 14
Germany- Bavaria / Roscher et al. (2001) / Jan 1999-Jul 2001 / 307,676 / 2 / 153,838 / 0.65 / 9
Germany- South Western, Baden-Wurttemberg / Lindner et al. (2011) / Jan 1999-Apr 2005 / 1,084,195 / 7 / 154,885 / 0.65 / 15
New South Wales & ACT, Australia / Wiley et al. b / Apr 1998-Dec 2013 / 1,430,227 / 14ɸ / 102,159 / 0.98 / 14
New Zealand / Wilson et al. (2007) / 2004-2006 / 175,000 / 1 / 175,000 / 0.57 / 6
New Zealand / Webster et al.c / Dec 2006-Dec 2011 / 446,639 / 1 / 446,639 / 0.22 / 13
Portugal / Quental et al. (2010) / 2005-2009 / 434,000 / 5 / 86,800 / 1.15 / 9
Spain / AECNE d / 2001-2011 / 808,149 / 11 / 73,468 / 1.36 / 8
USA- New England / Comeau et al. (2004) / Jan 1999-Jan 2003 / 472,254 / 2 / 236,127 / 0.42 / 10

aData from National Screening reports Germany 2004-2007; 2008; 2009; 2010

bData from New South Wales screening programme, Australia (unpublished)

b Data from New Zealand screening programme (unpublished)

d Data collated by AECNE (Asociación Española de Cribado Neonatal) Presented at XVIII Reunion de los Centros de Cribado Neonatal Bilbao 2012

ɸ2 intermittent

*minimum score 6, maximum score 16

Table B1 MSUD prevalence in cohorts screened by MS:MS continued

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / USA- North Carolina / Frazier et al. (2006) / 1999-2005 / 749,695 / 1 / 749,695 / 0.13 / 15
USA- Pennsylvania and North Carolina / Chace et al.(2002) / Not presented / 1,100,000 / 12 / 91,667 / 1.09 / 7
USA, Texas / Tiwana et al. (2012) / 2007 / 400,000 / 1 / 400,000 / 0.25 / 7
Non Western / Argentina / Abdenur et al. (2000) / 1996-1999 / 9,320 / 1 / 9,320 / 10.73 / 9
Korea / Yoon et al. (2003) / Apr 2001-Mar 2004 / 79,179 / 2 / 39,590 / 2.53 / 14
Kuwait / Abdel-Hamid et al. (2007) / May 2004-Mar 2006 / 1,158 / 1 / 1,158 / 86.36 / 10
Malaysia / Abdul Rahman et al. (2007) / 2006-2008 / 13,793 / 2 / 6,897 / 14.50 / 10
Qatar / Lindner et al. (2007) / Dec 2003-Jul 2006 / 25,214 / 2 / 12,607 / 7.93 / 10
Saudi Arabia / Rashed et al. (1999) / 1995-1998 / 27,624 / 2 / 13,812 / 7.24 / 16
Singapore / Lim et al. (2013)e / 2006-2013 / 135,000 / 1 / 135,000 / 0.74 / 6
Taiwan / Niu et al. (2010) / Mar 2000-Jun 2009 / 1,321,123 / 13 / 101,625 / 0.98 / 13

*minimum score 6, maximum score 16

Table B2 MSUD prevalence in cohorts screened by alternate techniques

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Austria / Scriver (1985) / Not presented / 823,000 / 1 / 823,000 / 0.12
Belgium / Naylor & Guthrie (1978) / 1964-1976 / 168,630 / 1 / 168,630 / 0.59 / 6
Italy / Antonozzi et al. (1980) / 1978-1980 / 116,000 / 3 / 38,667 / 2.59 / 11
Germany- Federal Republic of Germany / Bickel (1987) / 1969-1984 / 5,063,298 / 25 / 202,532 / 0.49 / 8
Germany- Heidelberg (Baden-Wurttemberg) / Bickel (1987) / 1969-1984 / 940,369 / 7 / 134,338 / 0.74 / 8
Switzerland / Bachmann & Columbo (1982) / 1965-1980 / 1,111,251 / 8 / 138,906 / 0.72 / 7
Western Australia / Naylor & Guthrie (1978) / 1964-1976 / 74,652 / 1 / 74,652 / 1.34 / 6
USA / Naylor & Guthrie (1978) / 1964-1976 / 1,450,068 / 14 / 103,576 / 0.97 / 6
Non-Western / Japan / Aoki et al.(2003) / 1977-1994 / 23,579,319 / 36 / 654,981 / 0.15 / 8
Japan / Naylor & Guthrie (1978) / 1964-1975 / 104,574 / 1 / 104,574 / 0.96 / 6

*minimum score 6, maximum score 16

Table B3 MSUD prevalence based on clinical detection

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Australia / Wilcken et al. (2009) / 1994-2002 / 1,551,200 / 4 / 387,800 / 0.26 / 6
Australia, New South Wales / Wilcken et al, (2003) / April 1974-March 1994 / 1,754,000 / 12 / 146,167 / 0.68 / 6
Canada, British Columbia / Applegarth et al. (2000) / 1969-1996 / 1,142,912 / 2 / 571,456 / 0.17 / 6
Denmark / Lund et al. (2012) / 1992-2011 / 757,684 / 1 / 757,684 / 0.13 / 6
Germany / Hoffmann et al. (2004) / 1999-2000 / 844,575 / 3 / 281,525 / 0.36 / 6
New Zealand / Wilson et al. (2007) / 2004-2006 / 175,000 / 1 / 175,000 / 0.57 / 3
Portugal / Quental et al. (2010) / 1977-2009 / 4,084,525 / 31 / 131,759 / 0.76 / 6
Non-Western / Saudi Arabia / Moammar et al. (2010) / Jan1983-Dec 2008 / 165,530 / 48 / 3,449 / 29.00 / 7

*minimum score 3, maximum score 7

Appendix C

Table C1 GA-1 prevalence in MS/MS screened cohorts

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western

Western / Austria / Kasper et al. (2010) / Apr 2002-Dec 2009 / 622,489 / 9 / 69,165 / 1.45 / 12
Australia- New South Wales / Wiley et al. (1999) / 1997-1998 / 137,120 / 1 / 137,120 / 0.73 / 12
Australia, New South Wales & ACT / Wiley et ala / Apr 1998-Dec 2013 / 1,346,999 / 15 / 89,800 / 1.11 / 14
Australia-Victoria / Boneh et al. (2008) / Oct 2001–Sep 2007 / 391,651 / 6 / 65,275 / 1.53 / 8
Denmark, Faroe Islands , Greenland / Lund et al. (2012) / 2002-2011 / 504,049 / 7 / 72,007 / 1.39 / 14
Germany / Nennstiel-Ratzel et al. (2010)b / 2006-2010 / 3,404,987 / 23 / 148,043 / 0.68 / 14
Germany (Baden-Wurttemberg, Bavaria, Lower Saxony) / Kolker et al. (2007) / 1999-2005 / 3,807,600 / 38 / 100,200 / 1.00 / 7
Italy / La Marca et al. (2008) / 2002-2008 / 160,000 / 1 / 160,000 / 0.63 / 15
Netherlands / Loeberet al.c / 2009 / 186,128 / 1 / 186,128 / 0.54 / 13
New Zealand / Webster et al.d / Dec 2006-Dec 2011 / 446,639 / 3 / 148,880 / 0.67 / 13
Portugal / Vilarinho et al. (2010) / 2005-2009 / 316,243 / 6 / 52,707 / 1.90 / 13
Spain / AECNEe / 2001-2011 / 808,149 / 9 / 89,794 / 1.11 / 8
USA- North Carolina / Frazier et al. (2006) / 1999-2005 / 749,695 / 5 / 149,939 / 0.67 / 15
USA-Pennsylvania and North Carolina / Chace et al. (2002) / Not presented / 1,100,000 / 13 / 84,615 / 1.18 / 7
USA- Texas / Tiwana et al. (2012) / 2007 / 400,000 / 7 / 57,143 / 1.75 / 7
Non-Western / Argentina / Abdenur et al. (2000) / 1996-1999 / 9,320 / 1 / 9,320 / 10.73 / 9
China / Yang et al. (2011) / Jan 2008-Dec 2010 / 129,415 / 2 / 64,708 / 1.55 / 9
India (Andra Pradesh) / Sahai et al. (2011) / 2006-2008 / 4,896 / 1 / 4,896 / 20.42 / 15
Japan / Yamaguchi et al. (2007) / 1997-2007 / 606,380 / 3 / 202,127 / 0.49 / 7
Korea / Yoon et al. (2003) / Apr 2001-Mar 2004 / 79,179 / 2 / 39,590 / 2.53 / 14
Kuwait / Abdel-Hamid et al. (2007) / May 2004-Mar 2006 / 1,158 / 1 / 1,158 / 86.36 / 10
Lebanon / Khneisser et al. (2008) / Nov 2006-Aug 2008 / 22,000 / 1 / 22,000 / 4.55 / 14
Singapore / Lim et al. (2013)f / 2006-2013 / 135,000 / 3 / 45,000 / 2.22 / 6
Saudi Arabia / Rashed et al. (1999) / Jun 1995-1998 / 27,624 / 2 / 13,812 / 7.24 / 16
Taiwan / Niu et al. (2010) / Mar 2000- Jun 2009 / 1,321,123 / 13 / 101,625 / 0.98 / 13

a Data from New South Wales screening programme, Australia (unpublished)

b Data collected by DGNS (German Association for Newborn Screening) National Screening reports Germany 2004-2007; 2008; 2009; 2010

c Data from Netherlands screening programme (unpublished)

d Data from New Zealand screening programme (unpublished)

e Data collated by AECNE (Asociación Española de Cribado Neonatal) Presented at XVIII Reunion de los Centros de Cribado Neonatal Bilbao 2012

f Data from Singapore screening programme (unpublished)

*minimum score 6, maximum score 16

Table C2 GA-1 prevalence based on clinical detection

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Australia / Wilcken et al. (2009) / 1994-2002 / 1,551,200 / 6 / 258,533 / 0.39 / 6
Australia, New South Wales / Wilcken et al. (2003) / April 1974-March 1994 / 1,754,000 / 2 / 877,000 / 0.11 / 6
Canada, British Columbia / Applegarth et al. (2000) / 1979-1996 / 785,400 / 3 / 261,800 / 0.38 / 6
Denmark, Faroe Islands, Greenland / Lund et al. (2012) / 1992-2002 / 757,684 / 4 / 189,421 / 0.53 / 6
Germany / Hoffmann et al. (2004) / 1999-2000 / 844,575 / 3 / 281,525 / 0.36 / 5
Germany- South Western / Kolker et al. (2007) / 1975-1991 / 611,400 / 1 / 611,400 / 0.16 / 4
Germany- South Western / Kolker et al. (2007) / 1991-2002 / 187,200 / 1 / 187,200 / 0.53 / 4
New Zealand / Wilson et al. (2007) / 2004-2006 / 175,000 / 1 / 175,000 / 0.57 / 3
Sweden and Norway / Kyllerman et al. (2004) / 1977-2004 / 10,000,000 / 12 / 833,333 / 0.12 / 4
Non-Western / Saudi Arabia / Moammar et al. (2010) / Jan 1983- Dec 2008 / 165,530 / 3 / 55,177 / 1.81 / 7

*minimum score 3, maximum score 7

Appendix D

Table D1 IVA prevalence detected in MS/MS screened cohorts

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Australia- New South Wales & ACT / Wiley et al. a / Apr 1998-Dec 2013 / 1,430,227 / 4 / 357,557 / 0.28 / 14
Austria / Kasper et al. (2010) / Apr 2002-Dec 2009 / 622,489 / 1 / 622,489 / 0.16 / 12
Germany-Heidelberg / Lindner et al. (2011) / Jan 1999-Apr2005 / 1,084,195 / 15 / 72,280 / 1.38 / 15
Germany, minus Heidelberg and Munich lab data / Nennstiel-Ratzel et al. (2010)b / 2004-2010 / 4,014,848 / 42 / 95,592 / 1.05 / 14
Germany- Munich / Ensenauer et al. (2011) / Jan1999-Jun 2008 / 1,612,105 / 24 / 67,171 / 1.49 / 16
Italy / La Marca et al. (2008) / 2002-2008 / 160,000 / 1 / 160,000 / 0.63 / 15
Netherlands / Loeber et al. c / 2009 / 186,128 / 3 / 62,043 / 1.61 / 13
New Zealand / Webster et al.d / Dec 2006-Dec 2011 / 446,639 / 1 / 446,639 / 0.22 / 13
Portugal / Vilarinho et al. (2010) / 2005-2009 / 316,243 / 3 / 105,414 / 0.95 / 13
Spain / AECNEe / 2001-2011 / 808,149 / 1 / 808,149 / 0.12 / 8
USA- NENSP / Comeau et al. (2004) / 2002-2003 / 318,535 / 2 / 159,268 / 0.63 / 10
USA- North Carolina / Frazier et al. (2006) / 1999-2005 / 749,695 / 7 / 107,099 / 0.93 / 15
USA-Pennsylvania and North Carolina / Chace et al.(2002) / Not presented / 1,100,000 / 4 / 275,000 / 0.36 / 7

Table D1 continued: IVA prevalence detected in MS/MS screened cohorts

Location / Study / Period / Results / Grading of paper*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Non-Western / India- Andra Pradesh / Sahai et al. (2011) / 2006-2008 / 4,896 / 1 / 4,896 / 20.42 / 15
Korea / Yoon et al. (2003) / Apr 2001- Mar 2004 / 79,179 / 3 / 26,393 / 3.79 / 14
Lebanon / Khneisser et al. (2008) / Nov 2006- Aug 2008 / 22,000 / 1 / 22,000 / 4.55 / 14
Saudi Arabia / Rashed et al. (1999) / Jun 1995-1998 / 27,624 / 2 / 13,812 / 7.24 / 16
Taiwan / Niu et al. (2010) / Mar 2000-Jun 2009 / 1,321,123 / 2 / 660,562 / 0.15 / 13

4 benign variants were also detected

a Data from New South Wales screening programme, Australia (unpublished)

bData collected by DGNS (German Association for Newborn Screening) National Screening reports Germany 2004-2007; 2008; 2009; 2010

c Data from Netherlands screening programme (unpublished)

dData from New Zealand screening programme (unpublished)

e Data collated by AECNE (Asociación Española de Cribado Neonatal) Presented at XVIII Reunion de los Centros de Cribado Neonatal Bilbao 2012

*minimum score of 6, maximum score of 16

Table D2 IVA prevalence based on clinical detection

Location / Study / Period / Results / Grading of papers*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Australia / Wilcken et al. (2009) / 1994-2002 / 1,551,200 / 2 / 775,600 / 0.13 / 6
Australia- New South Wales / Wilckenet al.(2003) / April 1974-March 1994 / 1,754,000 / 3 / 584,667 / 0.17 / 6
Canada- British Columbia / Applegarthet al.(2000) / 1979-1996 / 785,400 / 2 / 392,700 / 0.25 / 6
Germany / Hoffmann et al. (2004) / 1999-2000 / 844,575 / 2 / 422,288 / 0.24 / 5
Non-Western / Saudi Arabia / Moammar et al. (2010) / Jan 1983-Dec 2008 / 165,530 / 6 / 27,588 / 3.62 / 7

*minimum score 3, maximum score 7

Appendix E

Table E1 LCHADD/MTP prevalence detected in MS/MS screened cohorts

Location / Study / Period / Results / Grading of papers*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Austria / Kasper et al. (2010) / Apr 2002-Dec 2009 / 622,489 / 9 / 69,165 / 1.45 / 12
Australia- New South Wales and ACT / Wiley et al.a / Apr 1998-Dec 2013 / 1,065,713 / 2 / 532,857 / 0.19 / 14
Denmark, Faroe Islands, Greenland / Lund et al. (2012) / 2002-2011 / 504,049 / 3 / 168,016 / 0.60 / 14
Germany / Nennstiel-Ratzel et al. (2010)b / 2004-2010 / 4,238,335 / 22 / 192,652 / 0.52 / 14
Germany- Hanover / Sander et al. (2005) / 1999-2005 / 1,200,000 / 11 / 109,091 / 0.92 / 12
Germany- Heidelberg / Lindner et al. (2011) / Jan 1999-Apr 2005 / 1,084,195 / 6 / 180,699 / 0.55 / 15
Germany, Munich / Roscher et al. (2001) / Jan 1999-Jul 2001 / 307,676 / 1 / 307,676 / 0.33 / 9
Hungary / Burgard et al. (2012) / 2008-2009 / 181,288 / 1 / 181,288 / 0.55 / 9
Netherlands / Loeber et al. c / 2009 / 186,128 / 1 / 186,128 / 0.54 / 13
Poland / Sykut-Cegielska et al. (2011) / 2001-2009 / 658,492 / 11ɣ / 59,863 / 1.67 / 12
Portugal / Vilarinho et al. (2010) / 2005-2009 / 316,243 / 3 / 105,414 / 0.95 / 13
Spain / AECNE (2012)d / 2001-2011 / 808,149 / 4 / 202,037 / 0.49 / 8
USA, Pennsylvania and North Carolina / Chace et al. (2002) / Not presented / 1,100,000 / 2 / 550,000 / 0.18 / 7
USA, NENSP / Comeau et al. (2004) / 2002-2003 / 318,535 / 1 / 318,535 / 0.31 / 10
USA, North Carolina / Frazier et al. (2006) / 1999-2005 / 749,695 / 3 / 249,898 / 0.40 / 15
Non-Western / Korea / Yoon et al. (2003) / Apr 2001-Mar 2004 / 79,179 / 3 / 26,393 / 3.79 / 14
Kuwait / Abdel-Hamid et al. (2007) / May 2004-Mar 2006 / 1,158 / 3 / 386 / 259.07 / 10

a Data from New South Wales screening programme, Australia (unpublished)

b Data collected by DGNS (German Association for Newborn Screening) National Screening reports Germany 2004-2007; 2008; 2009; 2010

c Data from Netherlands screening programme (unpublished)

dData collated by AECNE (Asociación Española de Cribado Neonatal) Presented at XVIII Reunion de los Centros de Cribado Neonatal Bilbao 2012

ɣThis includes 5 cases that were detected by chance as they had abnormal Phe levels.

*minimum score 6, maximum score 16

Table E2 LCHADD/MTPprevalence based on clinical detection

Location / Study / Period / Results / Grading of papers*
Total screened (n) / No of cases (n) / Birth prevalence
One in / Per 100,000
Western / Australia / Wilcken et al. (2009) / 1994-2002 / 1,551,200 / 3 / 517,067 / 0.19 / 6
Australia- New South Wales / Wilcken et al. (2003) / Apr 1974-Mar 1994 / 1,754,000 / 5 / 350,800 / 0.29 / 6
Denmark, Faroe Islands, Greenland / Lund et al. (2012) / 1992-2011 / 757,684 / 5 / 151,537 / 0.66 / 6
Poland / Sykut-Cegielska et al. (2011) / 2001-2009 / 3,348,000 / 29 / 115,448 / 0.87 / 5
Non-Western / Saudi Arabia / Moammar et al. (2010) / Jan 1983- Dec 2008 / 165,530 / 1 / 165,530 / 0.60 / 7

*minimum score 3, maximum score