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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

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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

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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)

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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)

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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

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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)

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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

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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.

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

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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

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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

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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

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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.

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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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212 REDUCING THE IMPACT OF BIRTH DEFECTS REFERENCES Adeyokunnu AA. 1982. The incidence of Down syndrome in Nigeria. Journal of Medical Genetics 19(4) :277-279. Airede KI. 1992. Neural tube defects in the middle belt of Nigeria. Journal of Tropical Pediatrics 38(1):27-30. Aksu TA, Essen F. Dolunay MS, Aliciguzel Y. Yucel G. Call S. Baykal Y. 1990. Erythrocyte glucose-6-phosphate dehydrogenase (1.1.1.49) deficiency in Antalya Province, Turkey: An epidemiologic and biochemical study. American Journal of Epidemiology 131(6): 1094-1097. Al-Awadi SA, Farage TI, Teebi AS, Naguib KK, Sundareshan TS, Murthy DS. 1990. Down syndrome in Kuwait. American Journal of Medical Genetics 7(suppl):87-88. Al-Mahroos F. 1998. Cystic fibrosis in Bahrain: Incidence, phenotype and outcome. Journal of Tropical Pediatrics 44(1) :35-39. Al-Naama MM, al-Naama LM, al-Sadoon TA. 1994. Glucose-6-phosphate dehydrogenase, hexokinase and pyruvate kinase activities in erythrocytes of neonates and adults in Basrah. Annals of Tropical Pediatrics 14(3):195-200. Amin-Zaki L, cl-Din ST, Kubba B. 1972. Glucose-6-phosphate dehydrogenase deficiency among ethnic groups in Iraq. Bulletin of tI7e VDorld HealtI7 Organization 47(1):1-5. Angastiniotis MA, Hadjiminas MG. 1981. Prevention of thalassaemia in Cyprus. Lancet 1(8216):369-371. Angastiniotis M, Modell B. Englezos P. Boulyjenkov V. 1995. Prevention and control of haemoglobinopathies. Bulletin of tI7e VDorld HealtI7 Organization 73(3):375-386. Aquaron R. 1990. Oculocutaneous albinism in Cameroon: A 15-year follow-up study. Opl7- tI7almic Paediatric Genetics 11 (4) :255-263. Bahadur RA, Bhat BV. 1989. Congenital musculoskeletal malformations in neonates. Journal of tI7e Indian Medical Association 87(2):27-29. Balgir RS, Murmu B. Dash BP. 1999. Hereditary hemolytic disorders among the Ashram school children in Mayurbhanj district of Orissa. Journal of tI7e Association of Pl7ysi- cians of India 47(10):987-990. Barnicot NA. 1952. Albinism in South Western Nigeria. Annals of Human Genetics 17:38- 72. Bashir N. Barkawi M, Sharif L. 1991. Prevalence of haemoglobinopathies in school children in Jordan Valley. Annals of Tropical Pediatrics 11 (4):373-376. Bashir N. Barkawi M, Sharif L, Momani A, Gharaibeh N. 1992. Prevalence of hemoglobino- pathies in north Jordan. Tropical and Geograpl7ical Medicine 44(1-2):122-125. Bhat BV, Babu L. 1998. Congenital malformations at birth: A prospective study from south India. Indian Journal of Pediatrics 65(6):873-881. Bittar Z. 1995. Major anomalies in consecutive births in south Beirut: A preliminary report about incidence of pattern. Le. Journal Me'dical Libanais 43(2):62-67. Bittar Z. 1998. Major congenital malformations presenting in the first 24 hours of life in 3865 consecutive births in south of Beirut. Incidence and pattern. Le. Journal Me'dical Libanais 46(5):256-260. Boo NY, Ong LC. 1990. Congenital talipes in Malaysian neonates: Incidence, pattern and associated factors. Singapore Medical Journal (6) :539-542. Boo NY, Hoe TS, Lye MS, Poon PK, Mahani MC. 1989. Maternal age-specific incidence of Down's syndrome in Malaysian neonates. Journal of tI7e Singapore Paediatric Society 31(3-4):138-142. Borkar AS, Mathur AK, Mahaluxmivala S. 1993. Epidemiology of facial clefts in the central province of Saudi Arabia. BritisI7 Journal of Plastic Surgery 46(8):673-675.

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APPENDIX A 213 Bouma MJ, Goris M, Akhtar T. Khan N. Khan N. Kita E. 1995. Prevalence and clinical presentation of glucose-6-phosphate dehydrogenase deficiency in Pakistani Pathan and Afghan refugee communities in Pakistan: Implications for the use of primaquine in regional malaria control programmes. Transactions of tI7e Royal Society of Tropical Medicine and Hygiene 89(1):62-64. Buccimazza SS, Molteno CD, Dunne TT, Viljoen DL. 1994. Prevalence of neural tube defects in Cape Town, South Africa. Teratology 50(3):194-199. Cao A, Rosatelli C, Pirastu M, Galanello R. l991.Thalassemias in Sardinia: Molecular pa- thology phenotype-genotype correlation and prevention. American Journal of Pediatric Hematology/Oncology 13 (2) :179-188. Castilla EE, Lopez-Camelo JS. 1990. The surveillance of birth defects in South America: I. The search for time clusters: Epidemics. Advances in Mutagenesis Research 2:191-210. Castilla EE, Martinez-Frias M. 1995. Congenital healed cleft lip. American Journal of Medi- cal Genetics 58(2):106-112. Castilla EE, Lopez-Camelo JS, Campana H. 1999. Altitude as a risk factor for congenital anomalies. American Journal of Medical Genetics 86(1):9-14. Chadha SL, Singh N. Shukla DK. 2001. Epidemiological study of congenital heart disease. Indian Journal of Pediatrics 68(6):507-510. Chaturvedi P. Banerjee KS. 1989. Spectrum of congenital malformations in the newborns from Rural Maharashtra. Indian Journal of Pediatrics 56(4):501-507. Chaturvedi P. Banerjee KS. 1993. An epidemiological study of congenital malformations in newborn. Indian Journal of Pediatrics 60(5):645-653. Chiang SH, Wu SJ, Wu KF, Hsiao KJ. 1999. Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan. SoutI7east Asian Journal of Tropical Medicine and Public HealtI7 30(suppl 2):72-74. Choudhury A, Talukder G. Sharma A. 1984. Neonatal congenital malformations in Calcutta. Indian Pediatrics 21(5):399-405. Choudhury AR, Mukherjee M, Sharma A, Talukder G. Ghosh PK. 1989. Study of 1,26,266 consecutive births for major congenital defects. Indian Journal of Pediatrics 56(4):493- 499. Cin S. Akar N. Arcasoy A, Dedeoglu S. Cavdar AO. 1984. Prevalence of thalassemia and G6PD deficiency in North Cyprus. Acta Haematology 71(1):69-70. Collaborative Study. 1975. Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: A collaborative study. Humangenetik 30(4):273-286. Cooper ME, Stone RA, Liu Y. Hu DN, Melnick M, Marazita ML. 2000. Descriptive epidemi- ology of nonsyndromic cleft lip with or without cleft palate in Shanghai, China, from 1980 to 1989. Cleft Palate-Craniofacial Journal 37(3):274-280. Crowther C, Glyn-Jones R. 1986. Lethal congenital malformations in the Greater Harare Obstetric Unit during 1983. Central African Journal of Medicine 32(2):39, 41-43. Czeizel AK. 1997. First 25 years of the Hungarian congenital abnormality registry. Teratol- ogy 55(5):229-305. Czeizel AK, Intody Z. Modell B. 1993. What proportion of congenital abnormalities can be prevented? BritisI7 Medical Journal 306(6880):499-503. Daoud AS, Al-Kaysi F. El-Shanti H. Batieha A, Obeidat A, Al-Sheyyab M. 1997. Saudi Medical Journal 17(1):78-81. Delport SD, Christianson AL, van den Berg HJ, Wolmarans L, Gericke GS. 1995. Congenital anomalies in black South African liveborn neonates at an urban academic hospital. SoutI7 A frican Medical Journal 8 5 ( 1 ): 1 1 - 1 5. El-Hazmi MA, Warsy AS, al-Swailem AR, Al-Swailem A, Bahakim HM. 1996. Sickle cell gene in the population of Saudi Arabia. Hemoglobin 20(3):187-198.

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214 REDUCING THE IMPACT OF BIRTH DEFECTS Fan GX, Jun Y. Rui-guan C. 1999. Neonatal screening of phenylketonuria and congenital hypothyroidism in China. Southeast Asian Journal of Tropical Medicine and Public Health 30(suppl 2):17-19. Farhud DD, Kabiri M. 1982. Incidence of phenylketonuria (PKU) in Iran. Indian Journal of Pediatrics 49(400):685-688. Ferencz C, Rubin JD, McCarter RJ, Brenner JI, Neill CA, Perry LW, Hepner SI, Downing JW. 1985. Congenital heart disease: Prevalence at live birth. The Baltimore-Washington in- fant study. American Journal of Epidemiology 121 (1) :31 -36. Fok TF, Lau SP, Fung KP. 1985. Cord blood G-6-PD activity by quantitative enzyme assay and fluorescent spot test in Chinese neonates. Australian Paediatric Journal 21(1):23- 25. Gabritz RG, Joffres MR, Collins-Nakai RL. 1988. Congenital heart disease: Incidence in the first year of life. The Alberta Heritage Pediatric Cardiology Program. American Journal of Epidemiology 128 (2) :381-388. Ganeshaguru K, Acquaye JK, Samuel AP, Hassounah F. Agyeiobese S. Azrai LM, Sejeny SA, A Omer. 1987. Prevalence of thalassaemias in ethnic Saudi Arabians. Tropical and Geographical Medicine 39(3):238-243. Granda H. Gispert S. Martinez G. Gomez M, Ferreira R. Collazo T. Magarino C, Heredero L. 1994. Results from a reference laboratory for prenatal diagnosis of sickle cell disor- ders in Cuba. Prenatal Diagnosis 14(8):659-662. Gupta I, Gupta ML, Parihar A, Gupta CD. 1992. Epidemiology of rheumatic and congenital heart disease in school children. Journal of the Indian Medical Association 90(3):57-59. Gurson CT, Sertel H. Gurkan M, Pala S. 1973. Newborn screening for cystic fibrosis with the chloride electrode and neutron activation analysis. Helvetica Paediatrica Acta 28(2):165- 174. Hagberg C, Larson O. Milerad J. 1998. Incidence of cleft lip palate and risks of additional malformations. Cleft Palate-Craniofacial Journal 35(1) :40-45. Harris RG, Prieto L. 1925. The scientific importance of the White Indians. VDorld's VDork 49:211-217. Himmetoglu O. Tiras MB, Gursoy R. Karabacak O. Sahin I, Onan A. 1996. The incidence of congenital malformations in a Turkish populations. International Journal of Gynaec- ology and Obstetrics 55(2):117-121. Hitzeroth HW, Niehaus CE, Brill DC. 1995. Phenylketonuria in South Africa. A report on the status quo. South African MedicalJournal 85(1):33-36. Hoaglund FT, Kalamchi A, Poon R. Chow SP, Yau AC. 1981. Congenital hip dislocation and dysplasia in Southern Chinese. International Orthopaedics 4(4):243-246. Hoe TS, Boo NY, Clyde MM. 1989. Incidence of Down's syndrome in a large Malaysian maternity hospital over an 18-month period. Singapore MedicalJournal 30(3):246-248. Hosani HA, Czeizel AK. 2000. Congenital abnormalities in the United Arab Emirates. Tera- tology 61(3):161-162. Hu YH, Li LM, Li P. 1996. A five years surveillance on neural system birth defects in rural areas of China [Article in Chinese]. Zbonghua Liu Xing Bing X~e Za Z6i 17(1):20-24. Imaizumi Y. Yamamura H. Nishikawa M, Matsuoka M, Moriyama I. 1991. The prevalence of birth congenital malformations at a maternity hospital in Osaka City, 1948-1990. Jinrui Idengaku Zasshi (Japanese Journal of Human Genetics) 36(3) :275-287. Isaac GS, Krishnamurty PS, Reddy YR, Ahuja YR. 1985. Down's syndrome in Hyderabad, India. Acta Anthropogenetica 9(4):256-260. Jalil F. Lindblad BS, Hanson LA, Khan SR, Yaqoob M, Karlberg J. 1993. Early child health in Lahore, Pakistan: IX. Perinatal events. Acta Paediatrica 390(suppl):95-107.

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APPENDIX A 215 Jaovisidha A, Ajjimarkorn S. Panburana P. Somboonsub O. Herabutya Y. Rungsiprakarn R. 2000. Prevention and control of thalassemia in Ramathibodi Hospital, Thailand. South- east Asian Journal of Tropical Medicine and Public Health 31(3):561-565. Joseph R. Ho LY, Gomez JM, Rajdurai VS, Sivasankaran S. Yip YY. 1999. Mass newborn screening for glucose-6-phospate dehydrogenase deficiency in Singapore. Southeast Asian Journal of Tropical Medicine and Public Health 30(suppl 2):70-71. Jung S-C, Kim S. Yoon, K, Lee J. 1999. Prevalence of congenital malformations and genetic diseases in Korea. Journal of Human Genetics 44(1) :30-34. Kagore F. Lund PM. 1995. Oculocutaneous albinism among schoolchildren in Harare, Zim- babwe. Journal of Medical Genetics 32(11):859-861. Kalir A. 1985. A national monitoring system for congenital malformations in Israel. Israel Journal of Medical Sciences 21 (9) :731 -736. Kalra A, Kalra K, Sharma V, Singh M, Dayal RS. 1984. Congenital malformations. Indian Pediatrics 21(12):945-950. Kamble M, Chaturvedi P. 2000. Epidemiology of sickle cell disease in a rural hospital of central India. Indian Pediatrics 37(4):391-396. Kar BC. 1991. Sickle cell disease in India. Journal of the Association of Physicians of India 39(12):954-960. Kate SL. 2000. Health problems of tribal population groups from the State of Maharashtra. Indian Journal of Medical Science 55(2):99-108. Kaur M, Das GP, Verma IC. 1997. Sickle cell trait and disease among tribal communities in Orissa, Madhya Pradesh and Kerala. Indian Journal of Medical Research 105:111-116. Kazmi KA, Rab SM. 1990. Sickle cell anaemia in Pakistan. British Journal of Clinical Practice (11):503-555. Keeler CE. 1964. The incidence of Cuna Moon-child albinos. Journal of Heredity 55:155. KeelerCE. 1970. Cuna Moon-child albinism, 1950-1970.JournalofHeredity61(6):273- 278. Keeler CE, Prieto L. 1950. The Caribe-Cuna Moon-child: A demonstration of pigment-gene pleiotrophy in man. Bulletin of the Georgia Academy of Science 8:3-6. Kerem E, Kalman YM, Yahav V, Shoshani T. Abeliovich D, Szeinberg A, Rivlin J. Blau H. Tal A, Ben-Tur L, Springer C, Augarten A, Godirey S. Lerer I, Branski D, Friedman M, Kerem B. 1995. Highly variable incidence of cystic fibrosis and different mutation distri- bution among different Jewish ethnic groups in Israel. Human Genetics 96(2):193-197. Keskin A, Turk T. Polat A, Koyuncu H. Saracoglu B. 2000. Premarital screening of beta- thalassemia trait in the province of Denizli, Turkey. Acta Haematologica 104(1):31-33. Khoury MJ, Botto L, Waters GD, Mastroliacovo P. Castilla E, Erickson JD. 1993. Monitor- ing for new multiple congenital anomalies in the search for human teratogens. American Journal of Medical Genetics 46(4):460-466. Khrouf N. Spang R. Podgorna T. Miled SB, Moussaoui M, Chibani M. 1986. Malformations in 10,000 consecutive births in Tunis. Acta Paediatrica Scandinavica 75(4):534-539. Kidd SA, Lancaster PA, McCredie RM. 1993. The incidence of congenital heart defects in the first year of life. Journal of Paediatrics and Child Health 29(5):344-349. Kromberg JG, Jenkins T. 1982. Prevalence of albinism in the South African negro. South African Medical Journal 61 (11):383-386. Kulkarni ML, Mathew MA, Ramachandran B. 1987. High incidence of neural-tube defects in South India. Lancet 1(8544):1260. Kulkarni ML, Mathew MA, Reddy V. 1989. The range of neural tube defects in southern India. Archives of Disease in Childhood 64(2):201-204. Kumar P. Hussain MT, Cardos E, Hawary MB, Hussanain J. 1991. Facial clefts in Saudi Arabia: An epidemiologic analysis in 179 patients. Plastic Reconstructive Surgery 88(6): 955-958.

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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.

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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.

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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.

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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.