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Appendix A: Prevalence of Birth Defects
Pages 135-219

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From page 135...
... 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.
From page 136...
... Births, National Center for Birth Defects Monitoring (n = 2,750,588) Births, Gunung Wenang Hospital Manado, Jakarta (n = 13,354)
From page 137...
... . 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)
From page 138...
... (n = 12,797) Births, Mahatma Gandhi Institute of Medical Sciences and Civil Hospital, Wardha, (n = 3,014)
From page 139...
... 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)
From page 140...
... 1990 Births (n = 91,440) South Korea 1993-1994 Infants <1 yr, Korean Data from Federation of Medical Insurance (KFMI)
From page 141...
... 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
From page 142...
... fOswaldo Cruz, Ana Costa and De Cubatao. "Latin American Collaborative Study of Congenital Malformations.
From page 143...
... APPENDIX A 143 Method Prevalence Reference Y Physical examination at birth 11.1/1,000 births Himmetoglu et al., 1996
From page 144...
... 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)
From page 145...
... 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
From page 146...
... 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)
From page 147...
... 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
From page 148...
... mNational Program for Detection and Prevention of Birth Defects of the Israel Ministry of Health.
From page 149...
... 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
From page 150...
... 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)
From page 151...
... APPENDIX A 15 Method Prevalence Reference MCVa < 80 femtoliters (fL) , high performance liquid chromatography MCHC < 27 picograms (pg.)
From page 152...
... 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)
From page 153...
... 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- pThalassemia 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 .
From page 154...
... Latin America Brazil 1980 Mixed parentage Brazilian (n = 8,830) Whites (n = 17,584)
From page 155...
... 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%)
From page 156...
... 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)
From page 157...
... 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 elcetrophoresiscellulose 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%)
From page 158...
... 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)
From page 159...
... . ~em~quant~tat~ve fluorometric test Survey Test used to confirm clinically suspected cases: Quantitative visual .
From page 160...
... 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)
From page 161...
... . 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)
From page 162...
... Nationwide screening using heel blood sample from infants at 1143 delivery units in Taiwan in 1997. Coverage rate of neonatal screening 99%.
From page 163...
... 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
From page 164...
... 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)
From page 165...
... with albinism Physical examination 1/35,000 (1978) Aquaron, 1990 interview and genetic 1/28,000 (1987)
From page 166...
... dpCR = polymerase chain reaction. eFifty cases confirmed by physical examination.
From page 167...
... 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 .
From page 168...
... bMinistry of Health database and Department of Pediatrics medical records. CChloride electrode and neutron activation analysis.
From page 169...
... . 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
From page 170...
... 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)
From page 171...
... ~ 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
From page 172...
... 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)
From page 173...
... 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
From page 174...
... 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.
From page 175...
... 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
From page 176...
... , 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)
From page 177...
... 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 .
From page 178...
... 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)
From page 179...
... 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
From page 180...
... 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)
From page 181...
... ~. 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
From page 182...
... CChinese Birth Defects Monitoring Program. dIncludes stillbirths and neonatal deaths with parental consent.
From page 183...
... 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.
From page 184...
... 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)
From page 185...
... . examination Physical examination within 1 week of birth Clinical history or ..
From page 186...
... 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)
From page 187...
... 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)
From page 188...
... 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)
From page 189...
... . 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 .
From page 190...
... , PS, AS, coarctation of aorta, tetral ogy of Fallot, transposition of great arteries, and miscellaneous others. iLatin American Collaborative Study of Congenital Malformations.
From page 191...
... XCardiologist records, children's hospital records, autopsy records, and death certificates. YThe Heritage Pediatric Cardiology Program, northern and central Alberta.
From page 192...
... . 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)
From page 193...
... 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
From page 194...
... (n = 1,243,284) China 1988-1991 Births, National Center for Hospital Birth Defects Monitoring (n = 2,750,588)
From page 195...
... 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
From page 196...
... 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)
From page 197...
... 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 MartinezFrias, 1995 Castilla and Martinez Frias, 1995
From page 198...
... Israel 1980-1984 Live births, 1984 Data son (n = 86,833)
From page 199...
... 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
From page 200...
... "Includes stillbirths and neonatal deaths with parental consent. hNational Medical College, Matri Mangal Seva Prathisthan, Sishu Mangal Seva
From page 201...
... [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.
From page 202...
... (n = 2,068) Latin America Latin Americaa 1967-1989 Births ECLAM( (n = 2,159,065)
From page 203...
... 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
From page 204...
... aArgentina, Bolivia, Brazil, Chile, Colombia, Peru, Venezuela. bLatin American Collaborative Study of Congenital Malformations.
From page 205...
... 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
From page 206...
... (n = 12,797) Middle East and Eastern Europe Saudia Arabia 1991-1993 Live births, King Fahd Hofuf Hospital (n = 30,159)
From page 207...
... . 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.
From page 208...
... Births, 3 maternity hospitals,e Cubatao (n = 10,378) Hospital births (n = 2,159,065)
From page 209...
... 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
From page 210...
... dLatin American Collaborative Study of Congenital Malformations. eOswaldo Cruz, Ana Costa, and De Cubatao.
From page 211...
... 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
From page 212...
... 1998. Major congenital malformations presenting in the first 24 hours of life in 3865 consecutive births in south of Beirut.
From page 213...
... 1990. The surveillance of birth defects in South America: I
From page 214...
... 1996. A five years surveillance on neural system birth defects in rural areas of China [Article in Chinese]
From page 215...
... South African Medical Journal 61 (11)
From page 216...
... 1996. Heterogeneous rates for birth defects in Latin America: Hints of causality.
From page 217...
... 1989. Genetic epidemiological investigation of cleft lip and cleft palate [Article in Chinese]
From page 218...
... 1995. Analyses of the prevalences for neural tube defects and cleft lip and palate in China from 1988 to 1991.
From page 219...
... 1990. Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program.


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