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OCR for 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.
135
OCR for page 136
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
OCR for page 137
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)
OCR for page 138
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)
OCR for page 139
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
OCR for page 140
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)
OCR for page 141
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
OCR for page 142
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.
OCR for page 143
APPENDIX A
143
Method Prevalence Reference
Y.
Physical examination at birth
11.1/1,000 births Himmetoglu
et al., 1996
OCR for page 144
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
OCR for 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
OCR for 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
OCR for page 210
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.
OCR for 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
OCR for page 212
212
REDUCING THE IMPACT OF BIRTH DEFECTS
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Representative terms from entire chapter:
physical examination
