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Reducing Birth Defects: Meeting the Challenge in the Developing World (2003)

Chapter: Appendix A: Prevalence of Birth Defects

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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 137
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 138
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 139
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 140
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 141
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 144
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 145
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 152
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 153
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 154
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 155
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 156
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 157
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 158
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 159
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 160
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 161
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 162
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 163
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 164
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 165
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 166
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 167
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 168
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
×
Page 169
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 170
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 171
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 172
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 173
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 174
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 175
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 176
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 177
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 178
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 179
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 181
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 182
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Page 197
Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Suggested Citation:"Appendix A: Prevalence of Birth Defects." Institute of Medicine. 2003. Reducing Birth Defects: Meeting the Challenge in the Developing World. Washington, DC: The National Academies Press. doi: 10.17226/10839.
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Appendix A Prevalence of Birth Defects The tables that follow address the prevalence of birth defects in a range of settings. A-1 Birth defects A-2 Down syndrome A-3 Thalassemia A-4 Sickle cell disease A-5 Glucose-6-phosphate dehydrogenase deficiency A-6 Oculocutaneous albinism A-7 Cystic fibrosis A-8 Phenylketonuria A-9 Neural tube defects and hydrocephalus A-10 Congenital heart disease A-ll Cleft lip and/or cleft palate A-12 Talipes A-13 Developmental dysplasia of the hip Many of the observed differences in the prevalence rates observed in different studies may be the result of different methodological approaches. 135

136 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-1 Studies on the Prevalence of Birth Defects Country Year Population Method Africa South 1989-1992 Live births, Mankweng Physical Africa Hospital, Sovenga, Northern hours of Transvaal Tests use (n= 7,617) suspected Biologi Radiog Genetic Extrapol~ Extrapol~ South 1986-1989 Live births, Kalafong Physical Africa Hospital, Pretoria hours of (n = 17,351) Tunisia 1983-1984 Zimbabwe 1983 Births, Wassila Bourgiba Hospital, Tunis (live births 9662, stillbirths 238) (n = 10,000) Births, Greater Harare Obstetric Unit, Harare (n = 45,343) 1 Physical hours of Test used suspected Roentg Physical Uganda 1956-1957 Births, Mulago Hospital, Physical Kampala (live births 1927, stillbirths 141) (n = 2,068) Asia Malaysia 1984-1987 China 1988-1991 Indonesia 1983-1987 Live births, Alor Setar General Hospital (n = 19,769) Births, National Center for Birth Defects Monitoring (n = 2,750,588) Births, Gunung Wenang Hospital Manado, Jakarta (n = 13,354) Physical hours of Tests use suspected Lab in' Ultrasc cardiac exams Medical Physical Tests use suspected Radiol. serolog exam~n

APPENDIX A 137 Method Prevalence Reference g northern Physical examination within 24 hours of birth Tests used to confirm clinically suspected cases: Biological specimens Radiographs Genetic reference Extrapolation, age 1 yr Extrapolation, age 5 yr Physical examination within 24 hours of birth 15/1,000 live Venter et al., births 1995 (major) 30.7/1,000 live births (major and minor) 37.4/1,000 57.1/1,000 11.9/1,000 live births Delport et al., 1995 iba Physical examination within 24 24.8/1,000 births Khrouf et al., hours of birth (major) 1986 births Test used to confirm clinically suspected cases: 39.6/1,000 Roentgenograms (major and minor) Physical examination 2.1/1,000 births Crowther and (major) Glyn-Jones, 1986 tat, Physical examination at birth 18.9/1,000 births Simpkiss and L927, (major) Lowe, 1961 54/1,000 births (major and minor) Physical examination within 48 15.3/1,000 live Peng and hours of birth births Chuan, 1988 Tests used to confirm clinically suspected cases: Lab investigations Ultrasound, radiological, cardiac, neurologic . . examination r for Medical records 10.2/1,000 births Wu et al., ing 1995 ng Physical examination at birth 5/1,000 births Masloman et arta Tests used to confirm clinically (major) al., 1991 suspected cases: Radiological, hematological, 9/1,000 births serological, cardiac, neurological (major and examination minor)

138 TABLE A-1 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year India Population Births, Jimper Hospital, Pondichery (live births 12,337 stillbirths 460) (n = 12,797) Births, Mahatma Gandhi Institute of Medical Sciences and Civil Hospital, Wardha, (n = 3,014) Method Physical hours of Test used suspected Autops Physical hours of Test used suspected Radiol. 1989-1992 India 1985-1986 India 1981 Not specified Indian ce India Not Births, S. N. Medical Physical specified college, Agra hours of (n = 2,720) Test used suspected Further India Not Births, Murnbai, Delhi and Not spec: specified Baroda (n = 94,610) India Not Births Meta-ana specified (n = 301,987) Middle East and Eastern Europe United 1998 Births Data son Arab (n = 4,861) Emirates Live birtt year of li Hungary 1980-1994 Birth to 1 yr, five sources Data son (n = not specified)

APPENDIX A 139 Method Prevalence Reference ~l, Physical examination within 24 37/1,000 births Bhat and hours of birth (major and Babu, 1998 llbirths Test used to confirm clinically minor) suspected cases: Autopsya dhi Physical examination within 48 20.6/1,000 births Chaturvedi hours of birth (major) and Banerjee, spiral, Test used to confirm. clinically 1993 suspected cases: 27.2/1,000 births Radiological examination (major and minor) Indian censusb data 25/1,000 births Verma 1986 Physical examination within 48 19.8/1,000 births Kalra et al., hours of birth 1984 Test used to confirm clinically suspected cases: Further investigation i and Not specified 20.3/1,000 births Verma et al., 1998 Meta-analysis 19.4/1,000 births Verma et. al., 1990 Data source NCARC Live births examined up to one year of life Data sourced rces 30/1,000 births Hosani and Czeizel, 2000 Recorded 23/1,000 births (major) 46.3/1,000 births (major and minor) True 25.5/1,000 births (major) 65.3/1,000 births (major and minor) Czeizel 1997

140 TABLE A-1 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Hungary 1970- Not specified Data son 1980s Lebanon 1991-1993 Births Physical (n = 3,865) hours of Tests use suspected Radiog brain s chrome Latin America Brazil 1982-1985 Births, three maternity ECLAM( hospitals,f Cubatao examinat (n = 10,378) Cuba 1982-1993 Pregnant women, 15-19 Ultrasonc weeks' gestation, Havana Maternal (n = 356,380) (MS-AFP Developed Countries Japan 1948-1990 Births, St. Barnabas' Physical ~ Hospital, Osaka week aft (live births 129,734, fetal deaths 2262) (n = 131,996) United States 1968-1988 Births, Atlanta MACDPk (n = 580,952) 1989-1990 Births, Atlanta (n = 76,862) Italy 19 8 6-19 8 9 Births IPIMC' d (n = 448,195) 1990 Births (n = 91,440) South Korea 1993-1994 Infants <1 yr, Korean Data from Federation of Medical Insurance (KFMI) 1993 (n = 601,376) 1994 (n = 601,459)

APPENDIX A 14 Method Prevalence Reference Data sourcee 65/1,000 Czeizel et al., 1993 Physical examination within 24 16.5/1,000 Bittar, 1998 hours of birth (major) Tests used to confirm clinically suspected cases: Radiography, echography, brain scan, torch and chromosomal analysis r ECLAMCg Wata physical 10. 1/1,000 births Monteleone- examination at birth (major) Neto and 15.3/1,000 births Castilla (major and 1994 minor) 19 Ultrasonography (USG) 1982-1988 Rodriguez et ana Maternal serum oc-feto proteins Raised MS-AFP al., 1997 (MS-AFP) 685 cases USG 686 cases Physical examination up to first week after birth etal 10.7/1,000 births Imaizumi et al., 1991 MACDPh data IPIMC' data 10/1,000 births Khoury et al., 1993 11/1,000 births 8/1,000 births Khoury et al., 1993 8/1,000 births Data from KFMI 39.3/1,000 infants Jung et al., 1993 1999 34.4/1,000 infants 1994

142 TABLE A-1 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Turkey 1988-1995 Births, Gazi University, Physical Ankara Referral Center Late termination of pregnancy included (n = 9,160) aStillbirths and neonatal deaths with parental consent. bData based on 1981 Indian census. National Congenital Abnormality Registry. dHungarian Congenital Abnormality Registry. eHungarian Congenital Abnormality Registry and medical records, all institutions. fOswaldo Cruz, Ana Costa and De Cubatao. "Latin American Collaborative Study of Congenital Malformations. Metropolitan Atlanta Congenital Defects Program. Italian Multi-Centric Register of Congenital Malformations.

APPENDIX A 143 Method Prevalence Reference Y. Physical examination at birth 11.1/1,000 births Himmetoglu et al., 1996

Country Year Population Method Africa South Africa 1974-1993 Birthsa, Cape Town Data sol; Test use. 1974 (n = 20,358) clinically cases: 1993 (n = 31,446) Chrorr analyst South Africa 1980-1984 Live births,d white Prenatal population, Pretoria source (n = 384,197) Live births Pooled d (n = 4,939,640) studiesf South Africa 1989-1992 Live births, Physical Mankweng within 2- Hospital, Sovenga, birth Northern Transvaa (n = 7,617) Libya 1985 Live births, Physical Jamahirya Test used Maternity Hospital, clinically Benghazi cases: (n= 16,000) Chrom analyst and G- karyot~ 44 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-2 Studies on the Prevalence of Down Syndrome Nigeria 1972-1980 Live births, Ibadan Hospital (n = 3,000) Asia 1986-1987 Live births, Physical Maternity Hospital, Test used Kuala Lumpur clinically (n = 34,522) cases: Chrom. analyst Malaysia 1986-1987 Live births, Physical Maternity Hospital, Test used Kuala Lumpur clinically (n = 34,495) cases: Chrom, analyst

APPENDIX A 145 Method Prevalence Reference Data sourceb Test used to confirm clinically suspected cases: Chromosomal analysisC Prenatal diagnosis, sourcee Pooled data, six large studiesf Physical examination within 24 hours of birth Physical examination Test used to confirm clinically suspected cases: Chromosome analysis (cultures and G-banding of karyotype) 1.5/1,000 births Molteno et al., 1997 1.4/1,000 births 1.2/1,000 births 0.5/1,000 live births Op't Hof et al., 1991 1.3/1,000 live births 2.1/1,000 live births Venter et al., 1995 1.9/1,000 live Verma et births al., 1990 Hospital records" 1.2/1,000 live births Adeyokunnu, 1982 Physical examination 1/1,000 live births Hoe et al., Test used to confirm 1989 clinically suspected Malay cases: 1/1,000 live births Chromosomal Chinese analysis 1/1,000 live births Indians 1.2/1,000 live births Physical examination 1/1,000 live births Boo et al., 1989 Test used to confirm clinically suspected cases: Chromosomal analysis

146 TABLE A-2 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Indonesia 1983-1987 Births, Gunung Physical Wenang Hospital at birth Manado, Jakarta Tests use (n = 13,354) clinically Radiol~ hematc serolog neurol~ Pakistan 1984 Births Physical ~ (n = 1,134) within fit India 1985-1986 Births, Mahatma Physical ~ Gandhi Institute of within 4E Medical Sciences, birth Wardha Maharashtra (n = 3,014) India 1976-1978 Live births, Nilouier Hospital hospital, Hyderabad (n = 9,389) Physical at birth Test used clinically cases: Cytoge analyst India Not Births, multicentric Physical specified study, Mumbai, at birth Delhi, Baroda Test used (n = 94,610) clinically cases: Cytoge analyst India Not Births, Delhi, Patna, Meta-ana specified Bombay, Madras, Physical Trivandrum, Ajmer, at birth (n = 75,103) cytogenet when pot Middle East Saudi Arabia 1982-1991 Live births to Saudi Hospital mothers, King Physical Khalid university at birth hospital Riyadh Test used (n = 23,261) clinically cases: Live births to non- Cytoge Saudi mothers (n = 4,920)

APPENDIX A 147 Method Prevalence 0.1/1,000 births Masloman et al., 1991 Reference Physical examination at birth Tests used to confirm clinically suspected cases: Radiological, hematological, serological, cardiac, neurological examination Physical examination 4.4/1,000 births Jalil et al., within first week of life 1993 Physical examination 0.7/1,000 births Chaturvedi within 48 hours of and Banerjee, birth 1 989 Hospital records 1.2/1,000 live births Isaac et al., 1985 Physical examination at birth Test used to confirm clinically suspected cases: Cytogenetic analysis Physical examination at birth Test used to confirm clinically suspected cases: Cytogenetic analysis M eta - analys is Physical examination at birth Cytogenetic analysis when possible Hospital recordsh Physical examination at birth Test used to confirm clinically suspected cases: Cytogenetic analysis 0.9/1,000 births 1.1/1,000 births Verma et al., 1988 1.8/1,000 Saudi live Niazi et al., 1995 births 1.8/1 ,000 non-Saudi live births Overall 1.8/1,000 live births

148 TABLE A-2 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Latin America Argentina 1967-1995 Births in 53 ECLAM( hospitals (n = 1,668,733) Brazil 1982-1986 Births, three ECLAM( participating Physical hospitals, Cubatao, (n = 10,378) Developed Countries Kuwait 1986 Live births, 2 Commun district hospitals survey Jahrai (n = 300,000) Births, Farwaniak (n = 400,000) Israel 1984 Live births Data son (n = 86,833) 1980 Live births (n = 85,575) Israel 1979 Live births to Data son mothers 35 years or older (n = 69,896) 1992 Live births (n = 78,442) aIncludes live births, stillbirths, and terminated pregnancies. bThe Department of Human Genetics of the University of Cape Town, Cape Mental Health Society Register, and Down Syndrome Association records. call but three cases confirmed. dLive births among whites, with 1-year interval of maternal age obtained from State Central ~ . . ~ . ~tat~st~ca Services. eCentral cytogenetic database, Genetic Services Division, South Africa. fNew York, Ohio, British Columbia, Massachusetts, Sweden, and Clanmorgan. "University College Hospital, Ibadan. hNeonatal unit registries, pediatric department, cytogenetic laboratory, and computer-based medical records. iLatin American Collaborative Study of Congenital Malformations. i80 percent Bedouin population. kl5 percent Bedouin population. IMaternal and Child Health Department of the Ministry of Health. mNational Program for Detection and Prevention of Birth Defects of the Israel Ministry of Health.

APPENDIX A 149 Method Prevalence Reference ECLAMCi data Lowland Castilla et al., 1.6/1,000 births 1999 Highland 1.4/1,000 births ECLAMC data 1.2/1,000 births Monteleone- Physical examination Neto and Castilla, 1994 Community genetic survey Data sourcel Data sourcem 3.6/1,000 live births Al-Awadi et al., 1990 1.5/1,000 births 1/1,000 live births Kalir, 1985 0.9/1,000 live births 1/1,000 live births Shohat et al., 1995 0.5/1,000 live births

50 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-3 Studies on the Prevalence of Thalassemia Country Year Population Method Asia Thailand 1997-1998 Pregnant women, MCVa < Antenatal Clinic, (fL), high Ramathibodi Hospital liquid ch (n = 8,763) Couples (n = 1,840) China 1986-1987 Chinese women, MCHC < antenatal clinic, health (pg.), Hb centers and cellulose government hospital, Macau (n = 3,815) Cord blood sample Isoelectri (n = 1,091) polyp Hbd Bart India 1999 Children, six Ashram Hbd elect schools, aged 6-15 yr, cellulose Orrisa (n = 465) Middle East and Eastern Europe Jordan 1989 Alternate outpatients, MCVa < aged 2-80 yr, Princess electroph~ Basma teaching acetate, hospital, Irbid microchr~ (n = 1,000) Jordan 1989 Children randomly Complete selected, aged 6-10 yr MCVa < (n = 456) electroph' acetate a: (Beckmar HbA2 let m~crocol' chromate Jordan Not Volunteers, Northern Hbd elect specified Jordan (3 regions) (n = 2,290) Live births (n = 568) Turkey 1995-1999 Couples, marriage MCVa < registry office, and electroph' Regional Health acetate, Administration, Denizili (province) (n = 9,902)

APPENDIX A 15 Method Prevalence Reference MCVa < 80 femtoliters (fL), high performance liquid chromatography MCHC < 27 picograms (pg.), Hbd electrophoresis- cellulose acetate Isoelectric focusing (IEF) polyacylamide gel and Hbd Bart's Couples at riskb Jaovisidha et al. 4% 2000 p-Thalassemia Tamagnini et al., carriers 3.4 % 19 8 8 oc-Thalassemia carriers 6.2% Hbd electrophoresis- p-Thalassemia Balgir et al., 1999 cellulose acetate carriers 3.0 % MCVa < 75 fL, Hbd oc-Thalassemia Bashir et al., 1992 electrophoresis-cellulose carriers 3.5% acetate, microchromatography p-Thalassernia minor 3.1 % Complete blood count p-Thalassemia Bashir et al., 1991 MCVa < 75 fL, Hbd minor 3.3% electrophoresis-cellulose p-Thalassemia acetate and paragon gels carrier 3.5% (Beckman), HbA2 level- microcolumn chromatography Hbd electrophoresis MCVa < 80 fL, Hbd electrophoresis-cellulose acetate, HbA2 level p-Thalassernia Sunna et al., 1996 5.93% p-Thalassemia Keskin et al., 2000 carriers 2.6 %

152 TABLE A-3 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Developed Countries Hong Kong 1988-1997 Pregnant women, < 18 MCVa <, weeks' gestation, HbA2 lea Kwong Wah Hospital (n = 25,834) Sardinia Not Males, females, RBCd ins specified married couples, and electroph' pregnant women level (n = 167,000) Cyprus 1984 Males and females, Hbd elec Turkish Cypriots, cellulose North Cyprus (n = 1365) Cyprus 1974-1979 Males and females, Hematol' Cyprus blood fin (n = 18,344) cellulose electroph fragility, measurer chain sep aMCV = Mean corpuscular volume. bCouples at risk of having a child with homozygous p-thalassemia or p-thalassemia- HbE disease. Mean corpuscular hemoglobin. dHb = hemoglobin; RBC = red blood cell. ePercentage is higher because, prior to 1976, relatives of patients were specifically sought for screening.

APPENDIX A 153 Method Prevalence Reference MCVa <75 fL, oc-Thalassemia Sin et al., 2000 HbA2 level >3.5% carriers 4.3% p-Thalassemia carriers 2.8 % or- p- Thalassemia carriers 0.1% RBCd indices, Hbd p-Thalassemia Cao et al., 1991 electrophoresis, HbA2 carriers 30,000 level Couples at risk 1,544 Hbd electrophoresis- p-Thalassemia Cin at al., 1984 cellulose acetate carriers 14.4% Hematological indices, p-Thalassemia Angastiniotis and blood film examination, carriers l9.4%e Hadjiminas, 1981 cellulose acetate electrophoresis, osmotic fragility, HbF measurement, globin . · . cnaln separation

154 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-4 Studies on the Prevalence of Sickle Cell Disease Country Year Population Method Africa Nigeria Not specified Randomly selected males and females, aged >15 yr, 30 states (n = 16,000) Nigerian Sierra 1990-1993 Routine checkups Sickling Leone and patients with Hb elect: anemia symptoms, Ramsy Medical Laboratories (n = 3,524) Latin America Brazil 1980 Mixed parentage Brazilian (n = 8,830) Whites (n = 17,584) Blacks (n = 7,747) Cuba 1983 Couples Nationwi (n = 19,686) Cuba 1989 Pregnant women Nationwi nationwide diagnosis (n = 806,935) Asia Pakistan Over 2 yr All inpatients, Sickling t not specified Medical Unit, Jinnah Hb electr Postgraduate Medical Center, Karachi (n = 2,080) India 1981-1985 Randomly selected Solubility outpatients, tribal Hb elects clinics, Tamil Nadu (n = 1,377) India 1986 Hospitalized patients Sickling t in Orissa Hb electr (n = 9,822) Not Males and females specified randomly selected, regional population, Orissa (n = 1,000)

APPENDIX A 155 Method Prevalence Reference Nigerian national survey Sickling test Hb electrophoresis Brazilian censusa data Nationwide screening Nationwide prenatal . c .lagnosls Sickling test Hb electrophoresis Solubility test Hb electrophoresis Sickling test Hb electrophoresis S gene 25.3% HbAS 23% HbAC 1.8% HbSS 0.3% HbSC 0.2% HbS 22% HbAS 7.5% HbSS & HbSC 2.2% HbAS 4.7% HbSS 0.2% Others 1.7% HbAS 0.9% HbSS 0.1% Others 0.7% HbAS 6.2% HbSS 0.3% Others 1.6% Both partners carriers 6.4% SC anemia carriers 3.7% HbAS 3% HbAC 0.65% HbSS 0.02% HbSC 0.02% Others 0.04% Sickle cell disease 3.5% (HbS/D-Punjab 37.5 % HbS/thalassemia 62.5%) HbAS (30-37.8%) HbSS (1.2-1.9%) S gene in hospitalized Kar, 1991 patients 11.1 % Incidence of S gene in the surveyed population 15.1 % Angastiniotis et al. 1995 Wurie et al., 1996 Salzano, 1985 Granda et al., 1994 Granda et al., 1994 Kazmi and Rab, 1990 Ramasamy et al., 1994

156 TABLE A-4 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year India Population All pediatric inpatients, Kusturba Hospital, Maharashtra (n = 1,753) Randomly selected males and females (n = 2,570) Kerala (973) Madhya Pradesh (696) Orissa (901) Method Sickling t Hb electr 1995-1996 India India India Middle East Saudi Arabia Saudi Arabia Jordan 1989 Jordan 1989 Not specified 1991 Over 10 yr Not specified 1982-1994 Jordan Not specified Jordan Not specified Children, six Ashram Schools, aged 6-15 yr, Orrisa (n = 465) Tribal population, Maharashtra (n = 7.4 million) Males, Saudi Arabia (n = 840) Males and females, Ministry of Health hospitals and primary health care centers and volunteers, King Saud University (n = 30,055) Children randomly selected, aged 6-10 yr (n = 456) Alternate out- patients, aged 2-80 yr, Princess Basma Teaching Hospital, Irbid (n = 1,000) Volunteers, Northern Jordan (3 regions) (n = 2,290) Live births (n = 568) Live births, Irbid (n = 181) Males 90 Females 91 Sickling t Hb electr Physical Sickling t Hb electr Solubilit,- Hb electr Sickling t Hb electr Hb electr Sickling t Hb elcetr cellulose paragon Solubilit, Hb electr Hb electr Hb electr al980 Brazilian census; ethnic distribution according to the 1950 census.

APPENDIX A 157 Method Prevalence Reference s, aharashtra Schools, ~harashtra Sickling test Hb electrophoresis Sickling test Hb electrophoresis Physical examination Sickling test Hb electrophoresis Solubility test Hb electrophoresis Sickling test Hb electrophoresis Hb electrophoresis Sickling test Hb elcetrophoresis- cellulose acetate and paragon gels (Beckman) Solubility test Hb electrophoresis Sickle cell disease 5.7% HbAS 3.5% HbSS 2.2% HbAS (9.93-32.38%) HbSS (0.68-16.25) HbAS 0.6% HbAS 10 % HbSS 0.5% HbS 5.7% HbAS 7.4% HbSS 1.1% HbAS 0.44% HbAS 1% Estimated HbSS at birth 0.25% Kamble and Chaturvedi, 2000 Kaur et al., 1997 Balgir et al., 1999 Kate, 2000 Ganeshaguru, et al., 1987 El-Hazmi et al., 1996 Bashir et al., 1991 Bashir et al., 1992 Hb electrophoresis HbS 4.5% Sunna et al., 1996 HbSS 1.3%, HbSA 3.3% HbAS 3.2% Hb electrophoresis HbS 5% Talafih et al., 1996 Male 6% Female 4%

158 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-5 Studies on the Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency Country Year Population Method Africa Libya 1984 Births, Jamahiriya Dichloro] Maternity indophen Hospital, Benghazi fluoresce, (n = 120) G6PDb e: activity Males and femalesa Hemogra (n = 320) Reticuloc Asia Malaysia 1983-1984 Births, Malacca Fluoresce (n = 12,579) Thailand 1996-1998 Births, Rajavithi Fluoresce Hospital, Bangkok (n = 24,714) Taiwan 1987-1997C Births, 1,143 Quantita delivery units, fluoresce: Taipei Test used (n = 2,971,192) clinically cases: Pakistan 1989 Male school childrend, aged 5- 14 yr Pakistani Pathans (n = too) Afghan refugees Pathan (n = 14) Turkoman (n= 92) Uzbek (n = 33) Tajik (n = 35) Semiqu fluoror Survey Test used clinically cases: Quanti visual colorin determ India Not Births, Christian Modified specified Medical College, fluoresce~ Ludhiana QMRTe (n= 1,000) Hemoglo reticuloc, periphera smear/ India 1994 Births, 13 hospitals, Electropt Bangalore, Karnataka (n = 5,140)

APPENDIX A 159 Method Prevalence Reference Dichlorophenol indophenol fluorescent spot test G6PDb erythrocyte activity Hemograms Reticulocyte count Fluorescent spot test Fluorescent spot test Quantitative fluorescent spot test Test used to confirm clinically suspected cases: ~ · . . ~em~quant~tat~ve fluorometric test Survey Test used to confirm clinically suspected cases: Quantitative visual . · . co~or~metr~c . . . Determination Male population 2.8% Total 2.3% Chinese 3.2 %, Malays 2.3%, Indians 1.3% Total 5.1% Males 9.1% Females 1.7% Total 2.1% Male 3.1% Females 0.9 % Pakistani Pathans 7% Afghan Pathan Refugees 15.8% Turkoman 2.2% Uzbek 9.1% Tajik 2.9% Mir et al., 1985 Singh, 1 986 Ratrisawadi et al., 1999 Chiang et al., 1999 Bouma et al., 1995 Modified Total 3.9% Verma et al., 1990 fluorescent spot test Males 5% QMRTe Females 2.8 % Hemoglobin count, reticulocyte count, peripheral blood smearf Electrophoresis 7.8% Ramadevi et al., 1994

160 TABLE A-5 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method India 1999 Children, six Physical Ashram schools, examinat age 6-15 yr Orissa Hb electr (n = 465) Middle East and Eastern Europe Turkey 1986-1988 Males and females, Beutler's randomly selected, spot test 375 families, Modified Antalya city and method adjacent village G6PDb c: (n= 1,521) character North 1984 Males and females, Not spec: Cyprus healthy Turkish Cypriots (n = 250) Iraq 1972 Malesh, Republic Beutler's Hospital, Baghdad Fairbank (n = 563) fluoresce: Iraq 1972 Live births, two Beutler's maternity Fairbank Hospitals, fluoresce: Baghdad (n = 889) Iraq 1994 Births, randomly Modified selected, Basrah method Maternity and Al- G6PDb a Tahreer Hospital, Hexokinc Basrah Pyruvate (n = 1,226) activity Healthy university students, aged 20- 35, Basrah (n = 498) Developed Countries Singapore Over 7 years Births, National Enzyme c University Wong's i: Hospital modified (n = 22,830) technique Quantita estimatio enzyme a based on assay

APPENDIX A 16 Method Prevalence Reference Physical . . examlnatlon Hb electrophoresis 9.2% Beutler's fluorescent Males 7.4% spot test Females 1.8 % Modified Zinkham method G6PDb chemical characterization" Not specified Beutler's and Fairbanks fluorescent spot test Beutler's and Fairbanks fluorescent spot test Modified Beutler method G6PDb activity) Hexokinase activity Pyruvate kinase . . actlvlty Enzyme activity: Wong's in-house modified Bernstein's technique Quantitative estimation of . . enzyme activity: based on Beutler assay Balgir et al., 1999 Aksu et al., 1990 12.4% Males 8.4% Live births 8.9% Males 7.9% births Females 9.7% births Male students 9.2% Females students 11.8% Total 1 .6% Males 3.2% Females 0.1% Variation among males Chinese 3.9 %, Malays 2.9 %, Indians 0.7% Cin et al., 1984 Amin-Zaki et al., 1972 Amin-Zaki et al., 1972 Al-Naama et al., 1994 Joseph et al., 1999

162 TABLE A-5 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Hong Kong 1995 Births, Chinese Modified origin, University fluoresce, Maternity Hospital G6PDb e (n = 1,228 ) level Greece 1977-1989 Births, 174 Fluoresce national and Spectrop} private maternity method units Sansone ~ (n = 1,286,000) classic Be method' Greece Not Adult blood Beutler a specified samples, Blood quantase Donation G6PDb so Department, Speliopouleion General Hospital, Athens (n = 2,150) Births, maternity hospital, Greater Athens (n = 2,400) aIncludes 120 mothers and 200 healthy males (medical students, staff and blood donors). bG6PD = Glucose-6-phosphate dehydrogenase. Nationwide screening using heel blood sample from infants at 1143 delivery units in Taiwan in 1997. Coverage rate of neonatal screening 99%. dRefugees of Yakka, Ghund, Mohmand agency, Khorasan and Barakai. eQuantitative methemoglobin reduction test used to confirm all nonfluorescent and partially fluorescent cases. Cases were checked for hemolysis. "World Health Organization (WHO) standardized procedure for study of G6PD 1976. hMedical students, blood donors, and hospitalized patients. Measured according to the World Health Organization (WHO) method. iSansone method, classic Beutler method used occasionally.

APPENDIX A 163 Method Prevalence Reference Modified fluorescent spot test G6PDb enzyme level Fluorescent spot test Spectrophotometric method Sansone method classic Beutler method' Beutler assay using quantase MMR500 G6PDb screening kit Males 4.5 % Females 0.4% Total 3.14 % Males 4.5 % Females 1.8 % Adults 5.5% Births 3.1 % Fok et al., 1985 Missiou-Tsagaraki, 1991 Reclos et al., 2000

164 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-6 Studies on the Prevalence of Oculocutaneous Albinism Country Year Population Method Africa South 1989-1992 Live birthsa, Physical ~ Africa Mankweng Hospital, within 2' Northern Transvaal birthb (n = 7,617) South 1986-1989 Live births, Kalafong Physical ~ Africa Hospital, Pretoria within 2' (n= 17,351) birth South 1970 Black population, Survey, 1 Africa Soweto, JohannesburgC health cli (n = 803,511) John's E, Baragwa~ welfare workers, with albi: Cameroon 1972-1987 Population, Physical ~ 1976 national census interview (n = 7,663,246) marker to Bamilekes, Cameroon (n = 1,500,000) Zimbabwe Not Community Postal su: specified population, Tonga PCRd an; (n = ll,OOo) Zimbabwe Not Children, aged 6-23 yr, Postal su: specified 1747 schools outside Harare (n = 1.3 million) Zimbabwe 1994 Nigeria 1950 Children, aged 12-22 yr, 69 schools, Harare (n = 87,817) Schoolchildren, aged 4-20 yr, Lagos and outlying districts (n = 14,292) Postal su: Postal su: Asia Indonesia 1983-1987 Births, Gunung Medical Wenang Hospital, Manado, Jakarta (n = 13,354)

APPENDIX A sm 165 Method Prevalence Reference Physical examination within 24 hours of birthb 1/1,523 live births Venter et al., 1995 Physical examination 0.23/1,000 live births Delport et al., within 24 hours of 1995 birth Survey, 120 schools, 6 Albinism 1/3,900 Kromberg and health clinics, St. Carrier rate 1/32 Jenkins, 1982 John's Eye Hospital, (Southern Sotho 1/2,254, Baragwanath Hospital, Xhosa 1/4,700, welfare organizations, Pedi 1/9,700, municipal social Shangaan people workers, and families 1/28,614) with albinism Physical examination 1/35,000 (1978) Aquaron, 1990 interview and genetic 1/28,000 (1987) marker testing 1/11,900 (1978) 1/7,900 (1987) Postal survey follow-up. 1/1,000 Lund et al., 1997 PCRd analysis Postal surveye 1/4,728 Lund, 1996 Postal surveyf 1/2,661 Kagore and Lund, 1995 Postal survey 1/2,858 Barnicot, 1952 Medical records" 1/4,451 Masloman et al., 1991

166 TABLE A-6 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Latin America Cuba Cuna Indian Physical population 1925 (n = 20,100) 1940 (n = 20,831) 1950 (n = 22,822) 1962 (n = 23,743) 1970 (n = 24,800) aNeonatal deaths included. bObservation, palpation, and measurement of newborn according to genetic service division, Department of National Health and Population Development. National Census, 1970. dpCR = polymerase chain reaction. eFifty cases confirmed by physical examination. Cases confirmed by physical examination. "Cases identified by physical examination at birth confirmed with special procedures when required. hStudies conducted in the same town.

APPENDIX A 167 Method Prevalence Reference Physical examinations 69/10,000 47/10,000 67/10,000 61/10,000 63/10,000 Harris and Prieto, 1925 Stout, 1942 Keeler, 1950 Keeler and Prieto, 1964 Keeler, 1970 . . . ~ c .lvlslon, -es when

168 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-7 Studies on the Prevalence of Cystic Fibrosis Country Year Population Method Africa Africa Not African blacks, DNA ant specified southern, central, PCR assa and western Africa (n = 1,360) Middle East and Eastern Europe Bahrain 1978-1995 Not specified Medical Turkey Not Births, maternity Sweat ch specified clinic, Istanbul tests (n = 6,061) Jordan 1990-1999 Live births, Rahman Sweat tes Teaching Hospital, Irbid and Islamic Hospital, Amman (n = 1,260,000) Jordan Not Live births, 10 Boehring~ specified hospitals, Amman, Mannhei: Zarqa, Irbid, Jarash meconiur (n = 7,682) Developed Countries Israel 1981-1987 Live births, Israel Physical (n = 516,908) examinat Europe-America, Sweat ch Jews testf (n = 207,111) Asia-Africa, Jews (n = 309,797) aPCR = polymerase chain reaction. bMinistry of Health database and Department of Pediatrics medical records. CChloride electrode and neutron activation analysis. dUsing pilocarpine electophoresis. eCases confirmed by sweat test. fDNA analysis with PCR conducted in 50 cases.

APPENDIX A 169 Method Prevalence Reference DNA analysis, 1/128 carriers Padoa et al., 1999 PCR assaya Medical records b 1/5,800 Bahraini live births Al-Mahroos, 1998 1/33,333 population Sweat chloride 1/3,000 births Gurson et al., 1973 tests Sweat test d 1/8,129 live births Rawashdeh and Manal, 2000 Boehringer Mannheim (BM) meconium teste Physical . . examination Sweat chloride tests 1/2,560 live births Nazer, 1992 1/5,221 live births 1/3,288 live births 1/9,388 live births Ashkenazi 1/3,300 Libya 1/2,700 Georgia 1/2,700 Greece/Bulgaria 1/2,400 Yemen 1/8,800 Morocco 1/15,000 Iraq 1/32,000 Iran 1/39,000 Kerem et al., 1995

170 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-8 Studies on the Prevalence of Phenylketonuria Country Year Population Method Africa South Africa 1979-1986 Births, whites, Thin-laye Pretoria chromate (n = 59,600) Asia China 1982-1985 Births, 11 provinces Guthrie t' and cities (n = 198,320) China 1992-1997 Births, 8 citiese Guthrie t (n 1,107,212) Fluromet Immune Middle East and Eastern Europe Czech 1974-1975 Births, screening Guthrie t Republic center, Prague (n = 132,392) Poland 1974-1975 Births, screening Guthrie t center, Warsaw (n = 894,891) Iran 1982 Births, hospitals, Guthrie to Tehran (n = 8,633) Estonia 1993-1995 Births, maternity Modified hospitalsh fluorome (n = 36,074) method 1980-1992 Not specified Medical

APPENDIX A 171 Method Prevalence Reference Thin-layer chr o m at o g rap hya Guthrie tests Guthrie test Flurometric enzyme 1mmunoassayf Guthrie test Guthrie test Guthrie testg Modified fluorometric method Medical records) 1/20,000 births Beijing City 1/15,200 births Tiajnin and Hebei 1/7,600 birthed Shanghai and East China 1/45,300 birthed Northeast China 1/12,800 births Western China 0/25,800 birthed Total 1/14,767 births Shanghai 1/17,580 births Beijing 1/11,379 births Guangzhou 1/37,036 births as- .. ~ tannin 1/5,124 births Nanjing 1/12,617 births Shenyang 1/36,251 births Jinan 0/38,732 births Chengdu 1/38,933 births 1/6,618 births 1/7,782 births 1/8,000 births 1/6,010 births 1/8,090 births Hitzeroth et al., 1995 Liu and Zuo, 1986 Fan et al., 1999 Collaborative study, 1975 Collaborative study, 1975 Farhud and Kabiri, 1982 Ounap et al., 1998

172 TABLE A-8 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Turkey Not specified Births, maternity Guthrie t hospital, metropolitan districts) (n = 170,466) Latvia Births Fluorom~ (n = 500,000+) method Tests use confirm ~ suspected Amino analyst DNA a aScreening program conducted by National Health and Population Development. bBeijing, Tianjin, Shanghai, Hebei, Shandong, Zhejiang, Leioning, Jilin, Heilongjiang, Sichuan, Shanxi. CGuthrie's bacterial inhibition assay. dIncluding one case of hyperphenylalaninemia. eShanghai, Beijing, Guangzhou, Tianjin, Nanjing, Shenyang, Jinan, Chengdu. fused by one of the laboratories to diagnose phenylketonuria. "Examined within 4-6 days of birth. hData from health authorities of Estonia. iAll Estonia regional children's outpatient department and genetic counseling records of Tallinn outpatient clinic. iAnkara, Istanbul, Izmir, Samsun, Trabzon, and Diyarbakir.

APPENDIX A 173 Method Prevalence Reference Guthrie test 1/4,370 births Ozalp et al., 1990 Fluorometric 1/8,700 births Lugovska et al., 1999 method Tests used to confirm clinically suspected cases: Amino acid analysis DNA analysis

74 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-9 Studies on the Prevalence of Neural Tube Defects (NTDs) and Hydrocephalusa Country Year Population Method Prevalent Africa South 1976-1977 Births Data from 1.2/1,OOC Africa (n = 29,633) pediatric ward and mortuary 1.3/1,OOC records South 1989-1992 Births, Physical 3.5/1,OOC Africa Mankweng examination 1.7/1,OOC Hospital within 24 hours 1.6/1,OOC (n = 7,617) of birth 0.3/1,OOC 0.5/1,OOC South 1973-1992 Births, Hospital records Whites Africa hospitals, 2.6/1,OOC Capetown Blacks 0. (n = 516,252) births Mixed parentage 1/1,000 ~ South 1986-1989 Live births, Physical 0.2/1,OOC Africa Kalafong examination births Hospital, within 24 hours 0.5/1,OOC Pretoria of birth births (n = 17,351) 0.3/1,OOC births O.1/l,OOC births 0.6/1,OOC births Tunisia 1983-1984 Births, Physical 0.6/1,OOC Wassila examination 0.9/1,OOC Bourgiba within 24 hours 1.3/1,OOC Hospital, of birth Tunis (n = 10,000) Zimbabwe 1984 Births, Harare Medical records 0.2/1,OOC Maternity Hospital and clinics, Greater Harare (n = 18,033) Neonatal admissions, Harare (n = 2,154)

APPENDIX A Ids) 175 Prevalence Type of NTD Reference 1.2/1,000 births Spina bifida and Kromberg and d anencephaly Jenkins, 1982 r 1.3/1,000 births Hydrocephalus 3.5/1,000 births NTDs Venter et al., 1995 1.7/1,000 births Anencephaly urs 1.6/1,000 births Spina bifida 0.3/1,000 births Encephalocele 0.5/1,000 births Hydrocephalus lards Whites NTDs Buccimazza 2.6/1,000 births et al., 1994 Blacks 0.9/1,000 births Mixed parentage 1/1,000 births 0.2/1,000 live Anencephaly Delport et al., 1995 births urs 0.5/1,000 live Spina bifida births 0.3/1,000 live Spina bifida with births Hydrocephalus 0.1/1,000 live Encephalocele births 0.6/1,000 live Hydrocephalus births 0.6/1,000 births Anencephaly Khrouf et al., 1986 0.9/1,000 births Hydrocephalus urs 1.3/1,000 births Spina bifida rds 0.2/1,000 births Spina bifida Shija and Kingo, 1985

176 TABLE A-9 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Prevalent Nigeria 1987-1990 Births,b Jos Physical 7/1,000 University examination Teaching within 24 hours Hospital, Jos of birth (n = 5,977) Tanzania 1985 Dar es Not specified 0.3/1,OOC Salaam Asia China 1980-1987 Births, 42 Not specified South Ch hospitals, 1.6/1,OOC South and North China North C1 7.3/1,OOC China 1988-1991 Births, Hospital records 2.5/1,OOC National 1.5/1,OOC Center for 0.8/1,OOC Birth Defects 0.4/1,OOC Monitoring (n = 2,750,588) China 1986-1990 Births, rural Not specified 2/1,000 area (n = 167,274) 0.9/l,OOC 0.4/1,OOC O.9/l,OOC China 1986-1987 Births (live Physical 1.5/1,OOC and examination at 0.8/1,OOC stillbirths), birth 0.4/1,OOC >28 weeks of 2.7/1,OOC gestation, 945 Data sources O.9/l,OOC hospitals, 29 provinces (n = 1,243,284) Indonesia 1983-1987 Births, Hospital records 0.3/1,OOC Gunung 0.2/1,OOC Wenang Hospital, Manado Jakarta (n = 13,354) Pakistan 1984 Births Physical 7.9/1,OOC (n = 1,134) examination within first week of life

APPENDIX A 177 Prevalence 7/1,000 births Type of NTD Reference NTDs urs lards at 0.3/1,000 births South China 1.6/1,000 births North China 7.3/1,000 births 2.5/1,000 births 1.5/1,000 births 0.8/1,000 births 0.4/1,000 births 2/1,000 births 0.9/1,000 births 0.4/1,000 births 0.9/1,000 births 1.5/1,000 births 0.8/1,000 births 0.4/1,000 births 2.7/1,000 births 0.9/1,000 births Airede, 1992 Spina bifida NTDs NTDs Anencephaly Spina bifida Encephalocele Shija and Kingo, 1985 Melnick and Marazita, 1998 Wu et al., 1995 Neural system birth Hu et al., 1996 defects (in Chinese) Anencephaly Spina bifida Hydrocephalus Anencephaly Spina bifida Encephalocele NTDs Hydrocephalus Xiao et al., 1990 lards 0.3/1,000 births Anencephaly Masloman et al., 1991 0.2/1,000 births Hydrocephalus 7.9/1,000 births NTDs Jalil et al., 1993 . . . within life

178 TABLE A-9 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Prevalent India 1989-1992 Births, Jimper Physical 0.5/1,OOC Hospital, examination 0.2/1,OOC Pondicherry within 24 hours 0.7/1,OOC (live births of birth 0.2/1,OOC 12,337 Autopsyd 1.6/1,OOC stillbirths 460) (n = 12,797) India 1984 Births, J.J-M. Physical 11/1,000 Medical examination at College, birth Karnataka (n = 2,000) India 1984 Births, 3 Physical 11.4/1,OC hospitals, examination 5.1/1,OOC Karnataka within 24 hours 3.1/1,OOC (n = 3,500) of birth 0.8/1,OOC Autopsy India Not Births, Physical 2.6/1,OOC specified Obstetrics examination 2.2/1,OOC Department, within 48 hours 1.5/1,OOC S.N. Medical of birth 2.2/1,OOC College, Agra (n = 2,720) India Not Live and Data from 4.8/1,OOC specified stillbirths, published and 2.3/1,OOC North India unpublished 7.1/1,OOC (n = 58,445) sources, different Live births, hospitals in India 1.3/1,OOC Bombay 0.9/1,OOC (n = 153,811) 2.2/1,OOC Live and 1.3/1,OOC stillbirths, 1.0/1,OOC Madras 2.3/1,OOC (n = 23,315) Live and 0.6/1,OOC stillbirths, 0.2/1,OOC Calcutta 0.8/1,OOC (n = 136,246) Live and O.9/l,OOC stillbirths, 1/1,000 ~ Pondicherry 1.9/1,OOC (n = 14,482)

APPENDIX A 179 Prevalence Type of NTD Reference 0 5/ ,000 births Anencephaly Bhat and Babu, 1998 0 2/1,000 births Splna bifida urs 0.7/1,000 births Meningomyelocele 0.2/1,000 births Encephalocele 1.6/1,000 births Hydrocephalus 11/1,000 births NTDs Kulkarni et al., 1998 at urs urs ndia 11.4/1,000 births 5.1/1,000 births 3.1/1,000 births 0.8/1 ,000 births 2.6/1,000 births 2.2/1,000 births 1.5/1,000 births 2.2/1,000 births 4.8/1 ,000 births 2.3/1,000 births 7.1/1,000 births 1.3/1,000 births 0.9/1,000 births 2.2/1,000 births 1.3/1,000 births 1.0/1,000 births 2.3/1,000 births 0.6/1,000 births 0.2/1,000 births 0.8/1 ,000 births 0.9/1,000 births 1/1,000 births 1.9/1,000 births NTDs Anencephaly Meningomyelocele Encephalocele Anencephaly Spina bifida Encephalocele Hydrocephalus Anencephaly Spina bifida Anencephaly + spine bifida Anencephaly Spina bifida Anencephaly + spine bifida Anencephaly Spina bifida Anencephaly + spine bifida Anencephaly Spina bifida Anencephaly + spine bifida Anencephaly Spina bifida Anencephaly + spine bifida Kulkarni et al., 1989 Kalra et al., 1984 Verma, 1978

180 TABLE A-9 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year India Population Births, 4 hospitalse Lucknow (n = 129,676) Method Prevalent 1982-1991 India Middle East Northern Jordan Saudi 1996-1997 Arabia Latin America Brazil 1982-1986 Developed Countries United States 1968-1988 United Kingdom Not specified Hospital records Births, Mahatma Gandhi Institute of Medical Sciences and Test used to Civil confirm Hospital, Wardha, (n = 3,014) Physical examination within 48 hours of birth clinically suspected cases: Radiological examination Live births, Irbid (n = 86,812) Live births, Maternity and Children's Hospital and Ohud Hospital, Al-Madinah Al -M unawarah (n = 16,550) Births, 3 participating Hospitals (n = 10,378) Births Atlanta (n = 580,952) Liverpool 3.9/1,OOC 1.3/1,OOC 1.3/1,OOC 0.3/1,OOC 0.7/1,OOC 0.3/1,OOC Hospital recordsf Physical examination within 28 days of life ECLAMCg data MACDPh data Not specified 1.6/1,OOC births 0.4/1,OOC births 1.0/l,OOC births 0.3/1,OOC births 1.6/1,OOC births 0.5/1,OOC 0.3/1,OOC 0.2/1,OOC 0.5/1,OOC 0.8/1,OOC 0.2/1,OOC O.9/l,OOC 2.6/1,OOC 3.1/1,OOC

APPENDIX A 18 Prevalence Type of NTD Reference ~rds 3.9/1,000 births NTD Sharma et al., 1994 Anencephaly and spine bifida 1.3/1,000 births Anencephaly Chaturvedi and 1.3/1,000 births Hydrocephalus Banerjee, 1989 urs 0.3/1,000 births Meningocele 0.7/1,000 births Meningomyelocele 0.3/1,000 births Meningoencephalocele ,^~. ~. In ~rdsf 1.6/1,000 live NTDs Daoud et al., 1997 births 0.4/1,000 live Anencephaly births 1.0/1,000 live Spina bifida births 0.3/1,000 live Encephalocele births 1.6/1,000 live Hydrocephalus Murshid et al., 2000 births YS ata 0.5/1,000 births Anencephaly Monteleone- 0.3/1,000 births Spina bifida Neto and Castilla, 0.2/1,000 births Hydrocephalus 1994 ta 0.5/1,000 births Anencephaly Khoury et al., 1993 0.8/1,000 births Spina bifida 0.2/1,000 births Encephalocele 0.9/1,000 births Hydrocephalus 2.6/1,000 births Anencephaly Shija and Kingo, 1985 3.1/1,000 births Spina bifida

182 TABLE A-9 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Prevalent Italy 1986-1989 Births IPIMCi data O.1/l,OOC (n = 448,195) 0.4/1,OOC O.l/l,OOC 0.4/1,OOC Israel 1980-1984 Births in 1984 Data source) O.1/l,OOC (n = 86,833) 0.4/1,OOC O.l/l,OOC O.l/l,OOC 0.05/1,OC Argentina 1967-1995 Births, 53 ECLAMC data Lowland hospitals 0.5/1,OOC (n= 1,668,733) births Highland 0.2/1,OOC 0.6/1,OOC 0.3/1,OOC 0.4/1,OOC O.l/l,OOC South Korea 1993-1994 Infants <1 yr, Data from 0.3-0.4/1 Korean KFMIk 0.30-0.2 Federation of O.11-0.0, Medical O. 17-0.1. Insurance 1993 (n = 601,376) 1994 (n = 601,459) World World Not Not specified Not specified 1/1 COO specified O. 8il,OOC aHydrocephalus is excessive accumulation of cerebrospinal fluid, which is frequently assoc ated with neural tube defects. bIncludes stillbirths and neonatal births. CChinese Birth Defects Monitoring Program. dIncludes stillbirths and neonatal deaths with parental consent. eQueen Mary's, Mahila Aspatal, Fatima, Vivekanand Hospital.

APPENDIX A 183 Prevalence 0.1/1,000 births 0.4/1,000 births 0.1/1,000 births 0.4/1,000 births 0.1/1,000 births 0.4/1,000 births 0.1/1,000 births Type of NTD Anencephaly Spina bifida Encephalocele Hydrocephalus Anencephalus Spina bifida Spina bifida with Hydrocephalus Hydrocephalus Encephalocele Reference Khoury et al., 1993 0.1/1,000 births 0.05/1,000 births Lowland 0.5/1,000 births Highland 0.2/1,000 births 0.6/1,000 (LL) 0.3/1,000 (HL) 0.4/1,000 (LL) 0.1/1,000 (HL) 0.3-0.4/1,000 0.30-0.27/1,000 0.11-0.08/1,000 0.17-0.15/1,000 ta 1/1,000 births 0.8/1,000 births Anencephaly Spina bifida Hydrocephalus Anencephaly Spina bifida Encephalocele Hydrocephalus Anencephaly Spina bifida Kalir, 1985 Castilla et al., 1999 Jung et al., 1999 Shija and Kingo, 1985 fBirths with NTDs were from Princess Badia's, Princess Rashid Teaching Hospital, and other health facilities. "Latin American Collaborative Study of Congenital Malformations. Metropolitan Atlanta Congenital Defects Program. "Italian Multi-centric Register of Congenital Malformations. iMaternal and Child Health Department of the Ministry of Health. kKorean Federation of Medical Insurance.

184 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-10 Studies on the Prevalence of Congenital Heart Disease (CHD) Country Year Population Method Africa Tunisia 1983-1984 Births, Wassila Physical ~ Bourgiba Hospital, within 2' Tunis birth (live births 9,662, stillbirths 238) (n = 10,000) Egypt 1990-1991 Children, aged 6-12 Physical yr, 14 schools, Tests use Menoufia clinically (n = 8,000) cases: Chest Electro Echoca Color South Africa 1986-1989 Live births, Kalafong Physical ~ Hospital, Pretoria within 2' (n = 17,351) delivery Asia Thailand 1971-1973 Children, aged 4-16 Physical yr, 5 schools, Bang Tests use Pa-in, Ayutthaya clinically (n = 2,764) cases: Chest Electro Cardia' China 1997 Children, aged 0-2 Physical ~ yr, 13 counties, Test used Zhejing clinically (n = 115,836) cases: Echoca Indonesia 1983-1987 Births, Gunung Physical Wenang Hospital at birth Manado, Jakarta Test used (n = 13,354) clinically cases: Cardia' examin Pakistan 1984 Births Physical (n= 1,134) within 1 birth India 2001 Random sample of Clinical 1 children under 15 yr clinical e: in Delhi, India (n = 11,833)

APPENDIX A ease (CHD) 185 Method Prevalence Reference Physical examination 1.3/l,OOOa Khrouf et al., within 24 hours of 1986 birth Physical examination 2.6/l,OOOb Refat et al., 1994 Tests used to confirm clinically suspected cases: Chest X-ray Electrocardiography Echocardiography Color Doppler Physical examination 1.8/1,000 live Delport et al., within 24 hours of births 1995 delivery Physical examination 3.3/1,000 Pongpanich et al., Tests used to confirm 1976 clinically suspected cases: Chest X-ray Electrocardiography Cardiac catheterization Physical examination Test used to confirm clinically suspected cases: Echocardiography Physical examination at birth Test used to confirm clinically suspected cases: Cardiac . . examination Physical examination within 1 week of birth Clinical history or .. . . . . cllnlca1 examination 3.7/1,000 live births 0.4/1,000 births 6.2/1,000 birthsC 4.2/1,000 Zhang et al., 1990 Masloman et al. 1991 Jalil et al., 1993 Chadha et al., 2001

186 TABLE A-10 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method India 1989-1992 Births, Jimper Physical ~ Hospital, Pondicherry with in 2 (live births 12,337, birth stillbirths 460) Autopsyd (n = 12,797) India 1985-1986 Births, Mahatma Physical ~ Gandhi Institute of within 4E Medical Sciences, birth Wardha, Maharashtra (n = 3,014) India Not Randomly selected Physical specified school children, aged Tests use 6-16 yr, Jammu- clinically Tawi cases: (n = 10,263) Chest Electro Echoca India Not Births, Obstetrics Physical ~ specified Department, S.N. within 4E Medical college, birth Agra (n = 2,720) Middle East Sultanate of 1994-1996 Live births, Royal Physical Oman Hospital and Sultan Tests use Qaboos University, clinically Muscat cases: (n= 139,707) Chest Echoca Cardia' Angiog Latin America Brazil 1982-1986 Births, 3 hospitals ECLAM( (n = 10,378) Latin 1967-1989 Births, 156 hospitals Physical Americam (n = 2,159,065) at birth Maternal (ECLAM

APPENDIX A 187 Method Prevalence Reference Physical examination 2/1,000 births Bhat and Babu, with in 24 hours of 1.9/1,000 live 1998 birth births Autopsyd Physical examination 1.6/1,000 birthse Chaturvedi and within 48 hours of 0.3/1,000 birthsf Banerjee, birth 1989 Physical examination 0.8/1,000 Gupta et al., 1992 Tests used to confirm clinically suspected cases: Chest X-ray Electrocardiography Echocardiography Physical examination 0.7/1,000 births" Kalra et al., 1984 within 48 hours of birth Physical examination 7.1/1,000h Subramanyan et Tests used to confirm al., 2000 clinically suspected cases: Chest X-ray Echocardiography Cardiac catheter Angiography ECLAMCi data 0.2/1,000 births) Monteleone-Neto 0.3/1,000 birthsk and Castilla, 0.2/1,000 birthsl 1994 Physical examination 0.5/1,000 birthsn Lopez-Camelo at birth and Orioli, 1996 Maternal interview 0.5/1,000 births° (ECLAMC data)

188 TABLE A-10 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Developed Countries Finland 1982-1983 Births Data son (n = 133,000) Physical Tests use clinically cases: Echoca Cardia' cathete operati necrop South Korea 1993-1994 Infants < 1 yr, Korean Data sol; Federation of Medical Insurance 1993 (n = 601,376) 1994 (n = 601,459) United States 1981-1982 Live births, Medical Washington, DC, Baltimore, and 5 counties of Virginia (n = 179,697) United States 1968-1988 Births, Atlanta MACDPt (n = 580,952) 1989-1990 Births, Atlanta (n = 76,862) Italy 1986-1989 Births IPIMCW (n = 448,195) 1990 Births (n = 91,440) Australia 1981-1984 Live births, Data son Australian Bureau of Statistics, Sydney (n = 343,521) Canada 1981-1984 Live births, northern Data son and central Alberta examinat (n = 103,411) Tests use clinically cases: Echoca Cardia' cathete operate necrop

APPENDIX A 189 Method Prevalence Reference Data sourceP Physical examination Tests used to confirm clinically suspected cases: Echocardiography Cardiac catheterization at operation or necropsy Data sourcer Medical recordsS MACDPU data IPIMCW data Data sources Data sources physical . . examination Tests used to confirm clinically suspected cases: Echocardiography Cardiac catheterization at operation or necropsy 8.10/1,000 birthsq 1993 15.6/1,000 births 1994 14/1,000 births 3.7/1,000 birthst 0.2/1,000 birthsV 0.8/1,000 birthsW 4.3/1,000 live births Using invasive . . criteria on y 3.4/1,000 births, Using nonlnvaslve . . criteria 5.5/1,000 births Tikkanen and Heinonen, 1992 Jung et al., 1999 Ferencz et al., 1985 Khoury et al., 1993 Khoury et al., 1993 Kidd et al., 1993 Gabritz et al., 1988

190 TABLE A-10 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Israel 1980-1984 Live births, 1984 Data son (n = 86,833) aType of CHD not specified. bVentricular septal defect (VSD), pulmonary stenosis (PS), atrial septal defect (ASD), aortic stenosis (AS), mitral valve prolapse (MVP), patent ductus arteriosus (PDA). C5 cases of VSD, 1 case of PS and 1 case Fallot's tetralogy. dof stillbirths and neonatal deaths with parental consent. evsD. fBradyarrhythmia. gAcyanotic and cyanotic CHD. hVSD, ASD, PDA, atrioventricular septal defect (AVSD), PS, AS, coarctation of aorta, tetral- ogy of Fallot, transposition of great arteries, and miscellaneous others. iLatin American Collaborative Study of Congenital Malformations. iHeart defects, unspecified. kSeptal defects. IPDA. mArgentina, Bolivia, Brazil, Chile, Colombia, Peru, and Venezuela. nHeart defect, unspecified. °VSD. PFinnish register of congenital malformations or children's cardiac register. qVSD, ASD, PDA, coarctation of aorta, transposition of great arteries, conus arterious syn- drome, hypoplastic left ventricles, endocardial cushion defect, truncus arteriosus, and other rare diseases.

APPENDIX A 191 Method Prevalence Reference Data sourceaa Total 3.5/1,000 Suspected heart defect 1.6/1,000 Kalir, 19 8 5 rKorean Federation Medical Insurance. sCollaboration of 5 pediatric cardiology centers and 52 community hospitals, including neo- natal and infant deaths. tTransposition of great vessels, tetralogy of Fallot, double outlet right ventricle, truncus arterious, endocardial cushion defect, atresias, valve and vessel lesions, septal defects, and others. Metropolitan Atlanta Congenital Defects Program. vCardiac defects include common truncus, transposition of great vessels, tetralogy of Fallot, single ventricle, tricuspid atresia, and hypoplastic left heart. WItalian Multi-centric Register of Congenital Malformations. XCardiologist records, children's hospital records, autopsy records, and death certificates. YThe Heritage Pediatric Cardiology Program, northern and central Alberta. Transposition of great vessels, tetralogy of Fallot, double outlet right ventricle, PDA, ASD, VSD, AVSD, total anomalous pulmonary venous return, right-sided and left-sided obstructive lesions, complex lesions and others. aaMaternal and Child Health Department of the Ministry of Health.

192 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-ll Studies on the Prevalence of Cleft Lip and/or Cleft Palate Country Year Population Method Africa South Africa 1976-1977 Southern Africa 1983-1984 South Africa 1986-1989 South Africa 1989-1992 T. . unlsla Zimbabwe Uganda Zaire 1983-1984 1984 1956-1957 1977-1979 Births (n = 29,633) Births, Western Capea Whites 10,214 Coloreds 31,708 Blacks 9,377 (n = 51,299) Live births, Kalafong Hospital, Pretoria (n = 17,351) Live births, Mankweng Hospital, Sovenga, Northern Transvaal (n = 7,617) Births, Wassila Bourgiba Hospital, Tunis (live births 9,662, stillbirths 238) (n = 10,000) Births, Harare Maternity Hospital and clinics, Greater Harare (n = 18,033) Neonatal admissions (n = 2,154) Births, Mulago Hospital, Kampala (live births 1,927, stillbirths 141) (n = 2,068) Live births, Mama Yerno Hospital (n = 56,637) Birth rec . . . pealatrlc mortuary Data son Physical examlnat infants, a Physical ~ within 2' birth Physical ~ within 2' birth Physical within 2' birth Hospital Physical at birth Hospital Asia Philippines 1989-1996 Births, 6 citiese CLMMR (n = 47,969) records China 1980-1989 Live births, 22 Shanghai Hospital hospitals 1980-19. (n = 541,504) Physical 1987-19.

APPENDIX A Palate 193 Method Prevalence Reference Birth records from Facial cleft Kromberg and pediatric ward and 0.30/1,000 births Jenkins, 1982 mortuary Data source b Total Morrison et Physical 1/1,000 births al., 1985 examination of Whites infants, age <1 yr 0.6/1,000 births Coloreds 1.4/1,000 births Blacks 0.3/1,000 births Physical examination CL & cpc Delport et al., within 24 hours of 0.12/1,000 live births 1995 birth g Physical examination CL/CPd Venter, 1995 Northern within 24 hours of 0.4/1,000 live births birth iba Physical examination CL/CP Khrouf et al., within 24 hours of 0.4/1,000 births 1986 Ibirths birth CL 0.6/1,000 births CP 0.4/1,000 births rity Hospital records CL/CP Shija and Greater 0.3/1,000 births Kingo, 1985 tat, Physical examination CL Simpkiss and L,927, at birth 0.5/1,000 births Lowe, 1961 CL & CP 1/1,000 births rno Hospital records All clefts Ogle, 1993 0.5/1,000 live births CL/CP 0.4/1,000 live births CLMMRHf medical CL/CP Murray et al., records 1.9/1,000 births 1997 Hi Hospital records CL/CP Cooper et al., 1980-1986 1.2/1,000 births 2000 Physical examination at birth 1987-1989

194 TABLE A-ll continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method China 1986-1987 Births, 945 hospitals in 29 Hospital provinces (live and stillbirths) (n = 1,243,284) China 1988-1991 Births, National Center for Hospital Birth Defects Monitoring (n = 2,750,588) China 1985-1987 Births, 30 hospitals, Anhui Hospital province (n = 46,811) Indonesia 1983-1987 Births, Gunung Wenang Physical Hospital, Manado, Jakarta at birth (n = 13,354) India 1989-1992 Births, Jimper Hospital, Physical Pondicherry within 2 (live births 12,337 stillbirths birth 460) Autopsy (n = 12,797) India 1985-1986 Births, Mahatma Gandhi Physical Institute of Medical within 4 Sciences, Wardha, birth Maharashtra (n = 3,014) India 1976-1987 Births, 5 hospitals, West Hospital Bengal, (n = 115,851) 1986-1987 Births, Malda Sadar Physical Hospital, West Bengal (n = 10,415) India Not Births, Obstetrics Physical specified Department, S.N. Medical within 4 College, Agra birth (n = 2,720) Middle East Saudi Arabia 1989-1992 Live births, Health ministry Hospital of Central Province 1989-19 (n = 62,557) Physical at birth,

APPENDIX A 195 Method Prevalence Reference n 29 Hospital records CL & CP Xiao, et al., 1.3-3.1/1,000 births 1989 Average 1.8/1,000 births Rural 2.1/1,000 births Urban 1.7/1,000 births r for Hospital records CL & CP Wu et al., ing 11-26/1,000 births 1995 nhui Hospital records CL & CP Shi, 1989 2.5/1,000 births ng Physical examination CL & CP Masloman et karta at birth 0.9/1,000 births al., 1991 ~l, Physical examination CL/CP Bhat and within 24 hours of 1.95/1,000 births Babu,1998 llbirths birth Autopsyg dhi Physical examination CL/CP Chaturvedi within 48 hours of 2.3/1,000 births and Banerjee, birth 1989 est Hospital records h CL/CP Choudhury et 0.7/1,000 live births al., 1989 Physical examination CL/CP L 1/1,000 live births Physical examination CL 2.5/1,000 births Kalra et al., dLical within 48 hours of 1984 birth CP 1.5/1,000 births Ministry Hospital records,' CL & CP Borkar et al., 1989-1990 2.2/1,000 live births 1993 CL/CP Physical examination 1.9/1,000 live births at birth, 1990-1992 CL 0.9/1,000 live births CP 0.3/1,000 live births

196 TABLE A-ll continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Saudi Arabia 1982-1988 Live births, King Khalid Hospital University Hospital, Riyadh (n = 20,045) Iran 1976-1991 Live births, Maternity Hospital Hospital, Shiraz (n = 19,369) Latin America Latin 1967-1989 Hospital births ECLAM( American (n = 2,159,065) Study Argentina Brazil Chile Venezuela Colombia Peru Bolivia Latin 1967-1992 Live births ECLAM( America (n = 2,876,686) Spain 1976-1993 Live births ECEMC (n = 1,074,029)

APPENDIX A 197 Method Prevalence Reference lid i iyadh Hospital records) Hospital records ECLAMCk data ECLAMC data ECEMC' data Facial clefts 0.3/1,000 live births Total clefts 1/1,000 live births CL/CP 0.6/1,000 live births CP 0.4/1,000 live births Prevalence of cleft lip Buenos Aires 1.3/1,000 births Central 1.2/1,000 births Patagonia 1.6/1,000 births Northeast 0.9/1,000 births Southeast 0.8/1,000 births South 1.1/1,000 births Central 1.2/1,000 births South 1.4/1,000 births 0.8/1,000 births Savana 0.8/1,000 births Sierra 1/1,000 births 0.7/1,000 births Altiplano 2.5/1,000 Total clefts 1.4/1,000 live births CL/CP 0.8/1,000 live births CP 0.6/1,000 live births Total clefts 1.1/1,000 live births CL/CP 0.6/1,000 live births CP 0.5/1,000 live births Kumar et al., 1991 Rajabian and Sherkat, 2000 Lopez-Camelo and Orioli, 1996 Castilla and Martinez- Frias, 1995 Castilla and Martinez Frias, 1995

198 TABLE A-ll continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method South 1967-1981 Births, 56 hospitals in 8 ECLAM( Americam countries (n = 849,381) Developed Countries Japan 1994-1995 Live births, 1,532 maternity Question institutions (n = 303,738) Singapore 1986-1988 Live births, Kandang Physical Kerbau Hospital at birth (n = 30,411) United States 1968-1988 Births, Atlanta MACDP (n = 580,952) 1989-1990 Births, Atlanta (n = 76,862) Sweden 1991-1995 Live births,° Stockholm Hospital (n = 122,148) Parental Italy 1986-1989 Births IPIMCP (n = 448,195) 1990 Births (n = 91,440) Israel 1980-1984 Live births, 1984 Data son (n = 86,833)

APPENDIX A 199 Method Prevalence Reference 8 ECLAMC data CL/CP Menegotto 0.9/1,000 births and Salzano, 1991 ternity Questionnaire CL/CP Natsume et 1.4/1,000 live births al., 2000 Physical examination Facial clefts Tan, 1988 at birth 1.7/1,000 live births Chinese 2/1,000 live births Malays 1.4/1,000 live births Indians 0.9/1,000 live births MACDPn data CL/CP Khoury et al., 1/1,000 births 1993 CP 0.5/1,000 births m Hospital records CL & CP Hagberg et al., Parental interviews 2/1,000 live births 1998 CL 0.4/1,000 live births CP 0.7/1,000 live births CL/CP 0.7/1,000 live births IPIMCP data CL/CP Khoury et al., 0.6/1,000 births 1993 CP 0.5/1,000 births Data sourceq CP Kalir, 1985 0.3/1,000 live births CL 0.2/1,000 live births CL & CP 0.3/1,000 live births

200 TABLE A-ll continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Argentina 1967-1995 Births, 53 hospitals ECLAM( (n = 1,668,733) aGreater Cape Town, Bellville, Paarl, Stellenbosch, Somerset West, Wellington, Wynberg, Simonstown, Kuilsriver, and Goodwood. bTygerberg and Red Cross Memorial Children's Hospital and plastic surgeons in . . private practice. CCL&CP, cleft lip and cleft palate. dCL/CP, cleft lip with or without cleft palate. eManila, Lucena, Naga, Bacolod, Iligan and Davao city. fPediatric Department of Corazon Locsin Montelibano Memorial Regional Hospital. "Includes stillbirths and neonatal deaths with parental consent. hNational Medical College, Matri Mangal Seva Prathisthan, Sishu Mangal Seva

APPENDIX A 20 Method Prevalence Reference ECLAMC data Lowland CP 0.2/1,000 births CL 0.9/1,000 births Highland CP 0.2/1,000 births CL 1.7/1,000 births Castilla et.al., 1999 Pratisthan, Chinsurah Sadar Hospital, Baharampur Sadar Hospital, and Malda Sadar Hospital. King Fahd Specialist Hospital, Buraidah. [Plastic Surgery Division of King Khalid University Hospital to which all cleft lip or cleft palate cases are referred. kLatin American Collaborative Study of Congenital Malformations. ISpanish Collaborative Study of Congenital Malformations. mUruguay, Chile, Argentina, Brazil, Bolivia, Ecuador, Venezuela Metropolitan Atlanta Congenital Defects Program. °20% of all live births in Sweden. PItalian Multi-centric Register of Congenital Malformations. qMaternal and Child Health Department, Ministry of Health.

202 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-12 Studies on the Prevalence of Talipes Country Year Population Method Africa South Africa 1986-1989 Live births, Kalafong Physical ~ Hospital, Pretoria within 2' (n = 17,351) South Africa 1976-1977 Births Data, pet (n = 29,633) mortuary Tunisia 1983-1984 Births, Wassila Physical ~ Bourgiba Hospital, within 2' Tunis (live births 9662, stillbirths 238) (n = 10,000) Uganda 1956-1957 Births, Mulago Physical Hospital, Kampala birth (live 1927, still 141) (n = 2,068) Latin America Latin Americaa 1967-1989 Births ECLAM( (n = 2,159,065) South 1967-1978 Births, 59 maternity ECLAM( Americaa hospitals physical (n = 671,494) birth South 1982-1988 Births ECLAM( Americad (n= 869,750) Argentina 1967-1995 Births ECLAM( (n = 1,668,733) physical birth Brazil 1982-1986 Births, 3 hospitals ECLAM( (n = 10,378) Asia Malaysia 1988 Births, Maternity Physical Hospital, Kuala birth Lumpur (n = 8,369)

APPENDIX A 203 Method Prevalence Reference Physical examination within 24 hours of birth Data, pediatric ward and mortuary records Physical examination within 24 hours of birth Physical examination at birth ECLAMCb data ECLAMC data physical examination at birth ECLAMC data ECLAMC data physical examination at birth 0.5/1,000 live births 1.55/1,000 births 2.6/1,000 births 0.5/1,000 births 1.8/1,000 births 0.4/1,000 births 1.8/1,000 births Lowland Equinovarus 1.1/1,000 Talgovarus 0.2/1,000 Highland Equinovarus 0.6/1,000 Talgovarus 0.2/1,000 Delport et al., 1995 Kromberg and Jenkins, 1982 Khrouf et al., 1986 Simpkiss and Lowe, 1961 Lopez-Camelo and Orioli, 1996 Nunes and Dutra, 1986 Castilla and Lopez Camelo, 1990 Castilla et al., 1999 ECLAMC data 1.7/1,000 births Monteleone-Neto and Castilla, 1994 Physical examination at 5.6/1,000 births Boo and Ong, 1990 birth 4.5/1,000 birthse 1.3/1,000 birthsf

204 TABLE A-12 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Thailand 1975-1977 Births, Chulalongkorn Hospital hospital, Bangkok (n = not specified) Indonesia 1983-1987 Births, Gunung Physical Wenang Hospital birth Manado, Jakarta (n = 13,354) India 1980-1984 Live births Examina (n = 13,321) after birt India 1976-1987 Births, 5 hospitals Hospital West Bengal (n = 115,851) Physical 1986-1987 Births, Malda Sadar Hospital, West Bengal (n = 10,415) India 1976-1980 Births, National Hospital Medical College Hospital, Calcutta (n = 21,016) India 1989-1992 Births, Jimper Physical ~ Hospital, Pondicherry within 2' (live births 12,337, Autopsyh stillbirths 460) (n = 12,797) India Not Births, Obstetrics Physical specified Department, S.N. within 4 Medical College, Agra (n = 2,720) India 1985-1986 Births, Mahatma Physical Gandhi Institute of within 4 Medical Sciences, Wardha, Maharashtra (n = 3,014) aArgentina, Bolivia, Brazil, Chile, Colombia, Peru, Venezuela. bLatin American Collaborative Study of Congenital Malformations. CArgentina, Brazil, Chile, Equador, Peru, Uruguay, Venezuela. dSouth American countries, plus Costa Rica and Dominican Republic. eCongenital talipes equinovarus. fCongenital talipes calcaneovalgus. National Medical college, Matri Mangal Seva Prathisthan, Sishu Mangal Seva Pratisthan, Chins urah Sadar Hospital, Bahararnpur Sadar Hospital, and Mal da Sadar Hospital. hIncludes stillbirths and neonatal deaths with parental consent.

APPENDIX A 205 Method Prevalence Reference Hospital records Physical examination at birth Examination of infants after birth Hospital records" Physical examination Hospital records 1.3/1,000 live births 0.8/1,000 births 1.6/1,000 live births 0.6/1,000 births 0.3/1,000 births Physical examination 2/1,000 births within 24 hours of birth Autopsyh Limpaphayom and Jirachaiprasit, 1985 Masloman et al., 1991 Bahadur and Bhat, 1989 Choudhury et al., 1989 Choudhury et al., 1984 Bhat and Babu, 1998 Physical examination 1.5/1,000 births Kalra et al., 1984 within 48 hours of birth Physical examination 1/1,000 births Chaturvedi and within 48 hours of birth Banerjee, 1989

206 REDUCING THE IMPACT OF BIRTH DEFECTS TABLE A-13 Studies of the Prevalence of Developmental Dysplasia of the Hip (DDH) Country Year Population Method Africa South Africa 1986-1989 Live births, Kalafong Physical ~ Hospital, Pretoria within 2' (n = 17,351) Tunisia 1983-1984 Births, Wassila Bourgiba Physical ~ Hospital, Tunis within 2' (live births 9,662, stillbirths 238) (n = 10,000) Asia Malaysia 1984-1987 Live births, Alor Setar Physical General Hospital within 4E (n = 19,769) Tests use clinically cases: Lab in' Ultrasc radiolc~ examin Pakistan 1984 Births Physical (n= 1,134) within 1 India 1989-1990 Hospital births in urban Physical community Ortolani (n = 6,029) provocati Test used clinically cases: Ultrasc Radiol. India 1989-1992 Births, Jimper Hospital, Physical ~ Pondicherry within 2' (live births 12,337, stillbirths Autopsya 460) (n = 12,797) Middle East and Eastern Europe Saudia Arabia 1991-1993 Live births, King Fahd Hofuf Hospital (n = 30,159) Hospital Hungary 1970-1980s Not specified Data sol;

APPENDIX A . , lsla or 207 Method Prevalence Reference Physical examination within 24 hours of birth iba Ibirths an illbirths I Hofuf Physical examination within 24 hours of birth Physical examination within 48 hours of birth Tests used to confirm clinically suspected cases: Lab investigations, Ultrasound, radiological, cardiac, neurological . . examination Physical examination within 1 week of birth Physical examination Ortolani and Barlow provocative tests Test used to confirm clinically suspected cases: Ultrasonography Radiological evaluation Physical examination within 24 hours of birth Autopsya Hospital records Data sourceb 0.06/1,000 births Hip instability 4.1/1,000 births 0.2/1,000 births 1/1,134 births 0.9/1,000 births Unstable 18.7/1,000 births Subluxatable hips 12.1/1,000 births Dislocated hips 0.8/1,000 births 0.3/1,000 births 0.4/1,000 live births 13.62/1,000 Delport et al., 1995 Khrouf et al. 1986 Peng and Chuan, 1988 Jalil et al., 1993 Gupta et al., 1992 Bhat and Babu, 1998 Refat et al., 1995 Czeizel et al., 1993

208 TABLE A-13 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Lebanon Year Population Births (n = 3,865) Method Physical ~ within 2' Test used clinically cases: Radiog 1991-1993 Latin America South American Brazil 1982-1986 1982-1985 Latin American 1967-1989 Study Argentina Births (n = 869,750) Births, 3 maternity hospitals,e Cubatao (n = 10,378) Hospital births (n = 2,159,065) ECLAM( ECLAM( Physical at birth ECLAM( Brazil 1967-1989 Hospital births ECLAM( Chile 1967-1989 Hospital births ECLAM( Venezuela 1967-1989 Hospital births ECLAM( Colombia 1967-1989 Hospital births ECLAM( Peru 1967-1989 Hospital births ECLAM( Bolivia 1967-1989 Hospital births ECLAM(

APPENDIX A 209 Method Prevalence Reference Physical examination 1.8/1,000 births Bittar, 1995 within 24 hours of birth Test used to confirm clinically suspected cases: Radiography ECLAMC dated Hip subdislocation Castilla and 2.1/1,000 Lopez-Camelo, Hip dislocation 1990 0.2/1,000 spitals,e ECLAMC data 1.8/1,000 births Monteleone- Physical examination Neto and Castilla at birth 1994 ECLAMC data Lopez Camelo and Orioli, 1996 Buenos Aires 0.4/1,000 births Central 0.3/1,000 births Patagonia 0.7/1,000 births Northeast 0.03/1,000 births Southeast 0.3/1,000 births South 0.2/1,000 births Central 0.1/1,000 births South 0.01/1,000 births ECLAMC data ECLAMC data ECLAMC data ECLAMC data ECLAMC data ECLAMC data 0.1/1,000 births Savana 0.1/1,000 births ~- ~lerra 0.2/1,000 births 0.2/1,000 births Altiplano 0.04/1,000 births Lopez-Camelo and Orioli, 1996 Lopez-Camelo and Orioli, 1996 Lopez-Camelo and Orioli, 1996 Lopez-Camelo and Orioli, 1996 Lopez-Camelo and Orioli, 1996 Lopez-Camelo and Orioli, 1996

210 TABLE A-13 continued REDUCING THE IMPACT OF BIRTH DEFECTS Country Year Population Method Developed Countries Hong Kong 1960-1975 Israel 1968 1974 1980-1984 1980 1984 South Korea 1993-1994 1993 1994 Births, Sandy Bay Children's Hospital (n = 82,992) (n = 81,879) Births (n = 85,575) (n = 86,833) Infants <1 yr, Korean Federation of Medical Insurance (KFMI) (n = 601,376) (n = 601,459) In-patien outpat~en records Data SOI; Data from aIncludes stillbirths and neonatal deaths with parental consent. bHungarian Congenital Abnormality Registry and Medical Records, all institutions. C12 Latin American countries: 10 South American countries plus Costa Rica and Dominican Republic. dLatin American Collaborative Study of Congenital Malformations. eOswaldo Cruz, Ana Costa, and De Cubatao. Maternal and Child Health Department of the Ministry of Health.

APPENDIX A 211 Method Prevalence Reference ldren's In-patients' and outpatients' hospital records Data sourcef Data from KFMI 1968 0.1/1,000 births 1974 0.1/1,000 births 1980 3.3/1,000 births 1984 2.8/1 ,000 births 1993 1.1/1,000 infants 1994 0.9/1,000 infants Hoaglund et al., 1981 Kalir, 19 8 5 Jung et al., 1999

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216 REDUCING THE IMPACT OF BIRTH DEFECTS Limpaphayom M, Jirachaiprasit P. 1985. Factors related with the incidence of congenital clubfoot in Thai children. Journal of tile Medical Association of Thailand 68(1):1-5. Liu SR, Zuo QH. 1986. Newborn screening for phenylketonuria in eleven districts. Chinese Medical Journal 99(2):113-118. Lopez-Camelo JS, Orioli IM. 1996. Heterogeneous rates for birth defects in Latin America: Hints of causality. Genetic Epidemiology 13(5):469-481. Lugovska R. Vevere P. Andrusaite R. Kornejeva A. 1999. Newborn screening for PKU and congenital hypothyroidism in Latvia. SoutI7east Asian Journal of Tropical Medicine and Public HealtI7 30(suppl 2):52-53. Lund PM. 1996. Distribution of oculocutaneous albinism in Zimbabwe. Journal of Medical Genetics 33(8):641-644. Lund PM, Puri N. Durham-Pierre D, King RA, Brilliant MH. 1997. Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. Journal of Medical Genetics 34(9):733- 735. Masloman N. Mustadjab I, Munir M. 1991. Congenital malformation at Gunung Wenang Hospital Manado: A five-year spectrum. Paediatrica Indonesiana 31(11-12):294-302. Melnick M, Marazita ML. 1998. Neural tube defects, methylenetetrahydrofolate reductase mutation, and north/south dietary differences in China. Journal of Craniofacial Genetics and Developmental Biology 18(4):233-235. Menegotto BG, Salzano FM. 1991. Epidemiology of oral clefts in a large South American sample. Cleft Palate Craniofacial Journal 28(4):373-377. Mir NA, Fakhri M, Abdelaziz M, Kishan J. Elzouki A, Baxi AJ, Sheriff DS, Prasanan KG. 1985. Erythrocyte glucose-6-phosphate dehydrogenase status of newborns and adults in eastern Libya. Annals of Tropical Paediatrics 5(4):211-213. Missiou-Tsagaraki S. 1991. Screening for glucose-6-phosphate dehydrogenase deficiency as a preventive measure: Prevalence among 1,286,000 Greek newborn infants. Journal of Pediatrics 119(2):292-299. Molteno C, Smart R. Viljoen D, Sayed R. Roux A. 1997. Twenty-year birth prevalence of Down syndrome in Cape Town, South Africa. Paediatric and Perinatal Epidemiology 11 (4):428-435. Monteleone-Neto R. Castilla EE. 1994. Apparently normal frequency of congenital anoma- lies in the highly polluted town of Cubatao, Brazil. American Journal of Medical Genet- ics 52(3):319-323. Morrison G. Cronje AS, van Vuuren I, Op't Hof J. 1985. The incidence of cleft life and palate in the Western Cape. SoutI7 African Medical Journal 68(8):576-577. Murray JC, Daack-Hirsch S. Buetow KH, Munger R. Espina L, Paglinawan N. Villanueva E, Rary J. Magee K, Magee W. 1997. Clinical and epidemiologic studies of cleft lip and palate in the Philippines. Cleft Palate-Craniofacial Journal 34(1):7-10. Murshid WR, Jarallah JS, Dad MI. 2000. Epidemiology of infantile hydrocephalus in Saudi Arabia: Birth prevalence and associated factors. Pediatric Neurosurgery 32(3): 119-123. Natsume N. Kawai T. Kohama G. Teshima T. Kochi S. Ohashi Y. Enomoto S. Ishii M, Nakano Y. Matsuya T. Kogo M, Yoshimura Y. Ohishi M, Nakamura N. Katsuki T. Goto M, Shimizu M, Yanagisawa S. Mimura T. Sunakawa H. 2000. Incidence of cleft lip or palate in 303,738 Japanese babies born between 1994 and 1995. BritisI7 Journal of Oral and Maxillofacial Surgery 38(6):605-607. Nazer HM. 1992. Early diagnosis of cystic fibrosis in Jordanian children. Journal of Tropical Pediatrics 38(3):113-115. Niazi MA, al-Mazyad AS, al-Husain MA, al-Mofada SM, al-Zamil FA, Khashoggi TY, al- Eissa YA. 1995. Down's syndrome in Saudi Arabia: Incidence and cytogenetics. Human Heredity 45(2):65-69.

APPENDIX A 217 Nunes D, Dutra MG. 1986. Epidemiological study of congenital talipes calcaneovalgus. Bra- zilian Journal of Medical and Biological Research 19(1):59-62. Ogle OK. 1993. Incidence of cleft lip and palate in a newborn Zairian sample. TI7e Cleft P a l a t e - C r a n i o f a c i a l J o ~ r n a l 30 (2) : 250 - 251. Op't Hof J. Venter PA, Louw M. 1991. Down's syndrome in South Africa: Incidence, mater- nal age and utilization of prenatal diagnosis. SoutI7 African Medical Journal 79(4):213- 216. Ounap K, Lillevali H. Metspalu A, Lipping-Sitska M. 1998. Development of the phenylketo- nuria screening programme in Estonia. Journal of Medical Screening 5(1):22-23. Ozalp I, Coskun T. Tokol S. Demircin G. Monch E. 1990. Inherited metabolic disorders in Turkey. Journal of Inherited Metabolic Disorders 13(5):732-738. Padoa C, Goldman A, Jenkins T. Ramsay M. 1999. Cystic fibrois carrier frequencies in populations of African origin. Journal of Medical Genetics 36(1):41-44. Peng GP, Chuan YT. 1988. Major congenital anomalies in livebirths in Alor Setar General Hospital during a three-year period. Medical Journal of Malaysia 43(2):138-149. Pongpanich B. Dhanavaravibul S. Limsuwan A. 1976. Prevalence of heart disease in school children in Thailand: A preliminary survey at Bang Pa-in. SoutI7east Asian Journal of Tropical Medicine and Public HealtI7 7(1):91-94. Rajabian MH, Sherkat M. 2000. An epidemiologic study of oral clefts in Iran: Analysis of 1669 cases. TI7e Cleft Palate-Craniofacial Journal 37(2):191-196. Ramadevi R. Savithri HS, Devi AR, Bittles AH, Rao NA. 1994. An unusual distribution of glucose-6-phosphate dehydrogenase deficiency of south Indian newborn population. In- dian Journal of BiocI7emistry and Biopl7ysics 31(4):358-360. Ramasamy S. Balakrishnan K, Pitchappan RM. 1994. Prevalence of sickle cells in Irula, Kurumba, Paniya and Mullukurumba tribes of Nilgiris (Tamil Nadu, India). Indian Journal of Medical ResearcI7 100:242-245. Ratrisawadi V, Horpaopan S. Chotigeat U. Sangtawesin V, Kanjanapattanakul W. Ning- sanond V, Sunthornthepvarakul T. Khooarmompatana S. Charoensiriwatana W. 1999. Neonatal screening program in Rajavithi Hospital, Thailand. SoutI7east Asian Journal of Tropical Medicine and Public HealtI7 30(suppl 2):28-32. Rawashdeh M, Manal H. 2000. Cystic fibrosis in Arabs: A prototype from Jordan. Annals of Tropical Pediatrics 20(4):283-286. Reclos GJ, Hatzidakis CJ, Schulpis KH. 2000. Glucose-6-phosphate dehydrogenase deficiency neonatal screening: Preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening. Journal of Medical Screening 7(1):46-51. Refat M, Rashad ES, El Gazar FA, Shafie AM, Abou El Nmour MM, Sherbini AK, El Soubky MK, Eissa AM. 1994. A clinicoepidemiologic study of heart disease in school children of Menoufia, Egypt. Annals of Saudi Medicine 14(3):225-229. Rodr~guez L, Sanchez R. Hernandez J. Carrillo O. Heredero L. 1997. Results of 12 years' combined maternal serum alpha-fetoprotein screening and ultrasound fetal monitoring for prenatal detection of fetal malformations in Havana City, Cuba. Prenatal Diagnosis 17(4):301-304. Salzano FM. 1985. Incidence, effects, and management of sickle cell disease in Brazil. Ameri can Journal of Pediatric Hematology/Oncology 7(3):240-244. Sharma AK, Upreti M, Kamboj M, Mehra P. Das K, Misra A, Dhasmana S. Agarwal SS. 1994. Incidence of neural tube defects of Lucknow over a 10 year period from 1982- 1991. Indian Journal of Medical ResearcI7 99:223-226. Shi MN. 1989. Genetic epidemiological investigation of cleft lip and cleft palate [Article in Chinese] . ZI7ongI7ua Liu Xing Bing X~e Za ZI7i 10(3) :154-157.

218 REDUCING THE IMPACT OF BIRTH DEFECTS Shija JK, Kingo ARM. 1985. A prospective clinical study of congenital anomalies seen at Harare Central Hospital, Zimbabwe. Central African Journal of Medicine 31(8):145- 149. Shohat M, Legum C, Romem Y. Borochowitz Z. Bach G. Goldman B. 1995. Down syndrome prevention program in a population with an older maternal age. Obstetrics and Gyne- cology (3):368-373. Simpkiss M, Lowe A. 1961. Congenital abnormalities in the African newborn. Archives of Disease in CI7ildI7ood 36:404-406. Sin SY, Ghosh A, Tang LC, Chan V.2000. Ten years' experience of antenatal mean corpuscu- lar volume screening and prenatal diagnosis for thalassaemias in Hong Kong. Journal of Obstetrics and Gynaecology Research 26(3):203-208. Singh H. 1986. Glucose-6-phosphate dehydrogenase deficiency: A preventable cause of men- tal retardation. British Medical Journal 292(6517):397-398. Stout DB. 1942. San Blas acculturation. Social Forces 21:1. Subramanyan R. Joy J. Venugopalan P. Sapru A, al Khusaiby SM. 2000. Incidence and spectrum of congenital heart disease in Oman. Annals of Tropical Paediatrics 20(4):337- 341. Sunna EI, Gharaibeh NS, Knapp DD, Bashir NA. 1996. Prevalence of hemoglobin S and beta- thalassemia in northern Jordan. Journal of Obstetrics and Gynaecology Research 22(1):17-20. Talafih K, Hunaiti AA, Gharaibeh N. Gharaibeh M, Jaradat S. 1996. The prevalence of hemoglobin S and glucose-6-phosphate dehydrogenase deficiency in Jordanian newborn. Journal of Obstetrics and Gynaecology Research 22(5):417-420. Tamagnini GP, Kuam B. Fai Wk. 1988. Congenital anemias in Macau. Hemoglobin 12(5- 6):637-643. Tan KI. 1988. Incidence and epidemiology of cleft lip/palate in Singapore. Annals of tI7e Academy o f Medicine, Singapore 17(3) :311-314. Tikkanen J. Heinonen OP. 1992. Occupational risk factors for congenital heart disease. International Archives of Occupational and Environmental HealtI7 64(1):59-64. Verma IC. 1978. High frequency of neural tube defects in North India. Lancet 1(8069):879- 80. Verma IC. 1986. Medical genetics in India. Indian Journal of Pediatrics 53(4):437-440. Verma IC. 1988. Genetics causes of mental retardation. In Niermeijer M, Hicks E (eds.). Mental Retardation, Genetics and EtI7ical Considerations. Amsterdam: Reidel Publish- ing Co. Pp. 99-106. Verma IC, Elango R. Mehta L. 1990. Monitoring reproductive and developmental effects of environmental factors in India: A review. In All India Institute of Medical Sciences. Pp. 63-73. Verma IC, Anand NK, Modi UJ, Bharucha BA. 1998. Study of Malformations and Down Syndrome in India: A Multicentric Study. Trombay, Mumbai: Department of Atomic Energy, Bhabha Atomic Research Center. Venter PA, Christianson AL, Hutamo CM, Makhura MP, Gericke GS. 1995. Congenital anomalies in rural black South African neonates: A silent epidemic? SoutI7 African Medi- cal Journal 85(1) :15-20. Wu Y. Zeng M, Xu C, Liang J. Wang Y. Miao L, Xiao K. 1995. Analyses of the prevalences for neural tube defects and cleft lip and palate in China from 1988 to 1991. Hua Xi Yi Ke Da Me Me Bao 26(2):215-219. Wurie AT, Wurie IM, Gevao SM, Robbin-Coker DJ. 1996. The prevalence of sickle cell trait in Sierra Leone. A laboratory profile. VDest African Journal of Medicine 15(4):201-203. Xiao GZ, Zhang ZY, Li JC, et al. 1989. Epidemic investigation of cleft lip and palate in China [Article in Chinese]. Chinese Medical Journal 69:192.

APPENDIX A 219 Xiao KZ, Zhang ZY, Su YM, Liu FQ, Yan ZZ, Jiang ZQ, Zhou SF, He WG, Wang BY, Jiang HP. 1990. Central nervous system congenital malformations, especially neural tube de- fects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program. International Journal of Epidemiology 19(4):978- 982. Zhang Z. Li Z. Ji C. 1990. Prevalence study of congenital heart disease in children aged 0-2 in Zhejiang Province [Article in Chinese]. Zbonghua Liu Xing Bing Me Za Z6i 20(3):155-157.

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Each year more than 4 million children are born with birth defects. This book highlights the unprecedented opportunity to improve the lives of children and families in developing countries by preventing some birth defects and reducing the consequences of others. A number of developing countries with more comprehensive health care systems are making significant progress in the prevention and care of birth defects. In many other developing countries, however, policymakers have limited knowledge of the negative impact of birth defects and are largely unaware of the affordable and effective interventions available to reduce the impact of certain conditions. Reducing Birth Defects: Meeting the Challenge in the Developing World includes descriptions of successful programs and presents a plan of action to address critical gaps in the understanding, prevention, and treatment of birth defects in developing countries. This study also recommends capacity building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries.

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