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OCR for page 241
Index
A
Abortion
counseling, 106
ethical issues, 108
induced or spontaneous, 2,4,5,8,23,
25,26,45,52,84,98,103,105,
106,107,108
Acetylcholinesterase, 105
Acute leukemia, 25
ADRA (Adventit Development Relief
Agency), 128
Afghanistan, infant mortality rates, 16-17,
93
Africa
consanguineous marriages, 27,32
infant mortality rates, 14,15,16-17
prevalence of defects, 28,29,32,98,
136-137,144-145, 154-155, 158-
159,164-165,168-171,174-177,
184-185,192-193,202-203,206-
207
treatment of birth defects, 81-82
African Americans, disorders prevalent
among, 33
Age factors
maternal, 4,6,24,26,71,95,99,103,
230
paternal, 103
24
Albinism. See Oculocutaneous albinism
Alcohol-related neurodevelopmental
disorder, 48-49
Alcohol use during pregnancy
defects and risks associated with, 4,36,
48-49,52
interventions, 1, 6,78-79,128
Algeria, infant mortality rates, 16,93
Alpha-fetoprotein blood test, 99, 105,227
Aminopterin, 36,45
Amniocentesis, 101, 105,106-107,227,
230
Amniotic fluid, 227
Androgens and androgenic compounds, 35,
45
Anemia, 41,231. See also Sickle cell disease
acute hemolytic, 28,29,32,100,227
Anencephaly, 42,51,227
Angiotensin-converting enzyme inhibitors,
45,47
Antenatal. See Prenatal
Anticholinergic drugs, 45
Anticoagulant drugs, 36,45,48,79
Anticonvulsant drugs, 35,48,79
Anti-inflammatory drugs, nonsteroidal, 45
Antimalarial drugs, 32,100
Antithyroid drugs, 45
Aplasia cutis, 45
OCR for page 242
242
Argentina
monitoring program, 24
prevalence of defects, 148-149,182-183,
196-197,200-201,202-203,208-
209
Arthrogryposis, 48
Asia
consanguineous marriages, 27
immunization programs, 76
infant mortality rates, 14
prevalence of defects, 29,136-139,144-
148,150-151,154-157,158-161,
164-165,170-171,176-181,184-
187,192-195,202-207
Australia, prevalence of defects, 33,188-189
Autosomal disorders, 11, 27,34,227
B
Bahrain
infant mortality rates, 16-17
prevalence of defects, 168-169
Bangladesh, school-based rehabilitation
program, 89,90
Basic reproductive care, 69-71. See also
Community health programs
capacity building, 9, 125,228
collaborations, 126-128
data collection, 8,9,112
enhancement strategies, 5-6,9,122-128
and infant mortality, 15
laboratory standards, 125-126
primary, 123
recommendations, 5-6,9,71,112
secondary, 123-124
tertiary, 125
training, 8,9,126
Bendectin, 44
Bilirubin encephalopathy, 100, 233
Birth asphyxia, 15
Birth defects. See also Birth prevalence of
defects
causes and risk factors, 4,11,27; see
also Complex birth defects;
Environmental birth defects;
Genetic birth defects
. . . . · .
community varlaolllty in perceptions and
expectations, 6
data accuracy and quality, 14
defined, 3-4,11,228
global burden of disease, 14
INDEX
literature sources, 3,135-211
magnitude of the problem, 12,14
mortality and morbidity, 11, 15,233
prevalence, 1, 12,14,15,135-211
social isolation and stigmatization, 86,
87
Birth prevalence of defects. See also
individual countries
by country and disorder, 135-211
defined, 228
developed countries, 12
developing countries, 14
monitoring, 110-11 1
Blindness. See Vision and eye disorders
Blood transfusions and blood product
safety, 28,34,96,100
Bolivia, prevalence of defects, 196-197,
208-209
Bone marrow transplantation, 98
Brazil
prevalence of defects, 31,48,140-141,
148-149,154-155,180-181,186-
187,196-197,202-203,208-209
rubella immunization program, 76-77
C
Cameroon, prevalence of defects, 164-165
Canada, prevalence of defects, 23-24,188-
189
Cancer, secondary, 45,86. See also specific
types of cancer
Carbamazepine, 45,48
Cardiovascular anomalies, 12,35,36,37,
42,45,55
CARE (Cooperative for Assistance and
Relief Everywhere), 128
Caribbean
infant mortality rates, 15
prevalence of defects, 77
Catholic countries, 26
Caucasians, disorders prevalent among, 33,
34
Central nervous system damage, 35,36,40,
42,45,55
Cerebral palsy, 50
Child mortality, 28,31
Childbirth complications, 15,50,78
Chile
folic acid fortification of foods, 73
prevalence of defects, 196-197,208-209
OCR for page 243
INDEX
China
CHD treatment, 85
folic acid trials for NTDs, 72
HSV seroprevalence in pregnant women,
41
monitoring program, 23
prevalence of defects, 136-137,150-151,
170-171,176-177,184-185,192-
195
Chinese Birth Defects Monitoring Program
(CBDMP), 23
Chorionic villus sampling, 101, 105,106-
107,228
Chorioretinitis, 40,41
Christmas disease, 34
Chromosomal nondisjunction, 24,228
Cleft lip and/or cleft palate
cause and risk factors, 12,27,35,53
prevalence, 53,192-201
signs, symptoms, and sequellae, 52-53,
83-84,228
treatment, 83-84
Clinical trials
effective treatment, 230
efficacious treatment, 230
defined, 228
Clubfoot. See Talipes
Coagulation factor VIII deficiency, 34
Cocaine, 36
Colombia, prevalence of defects, 196-197,
208-209
Community-based rehabilitation, 83,87-88,
89,90,91,127,228-229
Community health programs
capacity building, 9, 80,125,128,228
collaborations, 123,126-128
data collection, 8,9,112,125
enhancement strategies, 5-6,9,122-128
genetic screening, 125-126
. . .. . .
Incorporation or Interventions Into
existing services, 1, 125,129-130
laboratory standards, 125-126
limiting factors, 17-18,112
primary care, 123,125
public health campaigns, 128
recommendations, 5-6,9,71,112
reproductive health services, 122-128
secondary care, 123-124
staffing, 123-124
tertiary care, 125
243
training of workers, 8,9,81,83,87-88,
90,102-103,123,124-125,126,
128,131
Community organizations, 126
Complex birth defects. See also specific
disorders
defined, 4,228
examples, 13,51-54
percentage of all defects, 12
Congenital abnormality, defined, 229
Congenital heart disease (CHD)
cause and risk factors, 25,229
diagnosis, 84
monitoring infants for, 78
prevalence, 184-191
signs, symptoms, and sequellae, 52
treatment, 84,85
Congenital hypothyroidism, 43,45,108,
229
Congenital infections. See also specific
diseases
CMV, 40,229
prevention, 1, 4,76-78
Congenital rubella syndrome, 76-78,229
cause and risk factors, 4,55
prevalence, 38-40
prevention, 1, 38,76-77
signs, symptoms, and sequellae, 37
surveillance, 77-78
survival, 37
Congo, iodine intervention, 74
Consanguineous unions, 4,27,31,32,33,
34,103,128,229
Constriction rings, 45
Convulsions, 229
Costa Rica
genetic screening program, 92,109
HSV seroprevalence in pregnant women,
41
infant mortality rate, 92,93
Coumarin derivatives, 36,45,47,48
Counseling
genetic, 8,102-103,108,113
preconceptional, 8,79,80,102-103
psychological, for families with defects,
84
recommendations, 79
training for, 102-103
Craniofacial defects, 36,45,48. See also
Cleft lip and/or cleft palate
OCR for page 244
244
Cretinism, 43,74,229
Cuba
genetic screening program, 15,92,98,
99,104,109,129
infant mortality rates, 18,92,93
prevalence of defects, 31,140-141,154-
155, 166-167
Cyanosis, 229
Cyclophosphamide, 45
Cyprus
genetic screening program, 15,104,109
infant mortality rates, 16-17
prevalence of defects, 152-153,160-161
Cystic fibrosis (CF)
cause and risk factors, 33
prevalence, 28,33-34,168-169
screening for, 33,100,107
signs, symptoms, and sequellae, 33,229-
230
survival rates, 230
treatment, 100
Cytogenetic techniques, 11
Cytomegalovirus (CMV), 35,39,40,229
Czech Republic, prevalence of birth defects,
170-171
D
Danazol, 45
Dandy-Walker syndrome, 45
Deafness, 35,36,37,40,41,43,50
Developed countries
maternal age-adjusted risk, 24
prevalence of defects, 140-143,148-149,
152-153,160-163,168-169,180-
183,188-191,198-201,210-211
Developing countries. See also individual
countries
burden of disease, 18
defined, 230
genetic screening programs, 15-17,92,
95,97-98,104,109
infant mortality rates, 14-15,18,93-95
limiting factors for health services, 17-18
partnerships with developed countries,
84,85
physicians and nurses, 123,124
prevalence of defects, 26
prevention and care programs for birth
defects, 2,82,85,87,88,90
public health ministries' role, 6
INDEX
statistical and registry data, 22
traditional health focus, 9
Developmental dysplasia of the hip
cause and risk factors, 12,54,230
diagnosis, 54,84,108
prevalence, 54,206-211
screening for, 108
signs, symptoms, and sequellae, 230
treatment or correction of, 54,84-86,108
Dhaka University, 90
Diabetes. See Insulin-dependent diabetes
mellitus
Diagnostic radiography, 50-51
Diazepan, 44
Diethylstilbestrol, 36,45
Disability-adjusted life years (DALY)
measure, 127
Down syndrome
cause and risk factors, 24,26,52, 55,
71,228,230
prevalence, 26,144-149
prevention, 1, 6,71
screening and detection, 105,106,111,
227,228,230
signs, symptoms, and sequellae, 25-26,
52,230
survival, 26
Drugs. See Medications; Recreational drugs
Dysarthria, 50
E
Eastern Europe, prevalence of defects, 138-
141,150-151,160-161,168-173,
206-207. See also individual
countries
Ebstein's anomaly, 36,45
Echocardiography, 46,47,52
Education programs, 5,6,71,79,86,89,
102,125,126,132
Egypt
infant mortality rates, 16-17,93
prevalence of defects, 184-185
toxoplasmosis seroprevalence in
pregnant women, 40
Encephalocele, 42,51,230
Environmental birth defects. See also
Complex birth defects;
Teratogens
alcohol and recreational drug use, 4,48-
50
OCR for page 245
INDEX
causes and risk factors, 4, 11, 13, 37-49; Folic acid
see also specific causes
defined, 230
examples of, 13
infectious pathogens, 4, 37-41
interventions, 71-80
maternal health and nutrition and, 42
percentage of all birth defects, 11
pollutants, 4, 50, 79
radiation, 50-51
Environmental pollutants, 8, 50, 79, 128
Epidemiological data
large-scale monitoring programs, 23, 24
quality and completeness of, 14, 110
recommendations on collection of, 8-9,
110-111, 125, 132, 133
sources for this study, 19
Epiphyseal stippling, 36, 48
Ergotamine, 46
Eritrea, HSV seroprevalence in pregnant defined 11 231
women, 41 . ~ ~
Estonia, prevalence of defects, 101, 170-171 detection, 11
Ethical considerations, 108-109
Ethiopia
CHD treatment, 85
infant mortality rates, 16-17, 93
Ethnic origin, and prevalence of disorders,
31, 33, 54, 103
European Register of Congenital
Abnormalities and Twins
(EUROCAT), 23
Eye. See Vision and eye disorders
antagonists, 36
deficiency, 1, 4, 42, 52, 55, 227
dietary sources, 72
fortification of foods, 1, 6, 71-73
supplementation, 70, 71-72, 98, 128
G
Gambia, cytomegalovirus immunity in
women, 40
Genetic birth defects. See also Complex
birth defects; Screening for
genetic disorders; individual
disorders
carriers, 28, 31, 32, 228, 231
chromosomal disorders, 4, 13, 23-26,
52, 103, 107, 227, 228
counseling about risk 102-103
F
Failure to thrive, 29
Family planning, 5, 55, 69, 71, 79, 104,
123, 128
Fertility rates, 18
Fetal alcohol syndrome
cause and risk factors, 48-49, 55, 78
prevalence, 49
prevention, 78-79
signs, symptoms, and sequellae, 49, 78,
231
Fetal karyotyping, 84, 106, 107
Fetal ultrasonography, 46, 47, 99, 105-106,
231
Finland, prevalence of defects, 188-189
Fogarty International Center Training and
Research Programs, 133
245
dominant traits, 11, 230
examples of, 13
maternal age and, 4, 6, 24, 26, 230
percentage of all birth defects, 11
single-gene disorders, 4, 11-12, 13, 27-
34, 105, 107
Genetic histories, 103
Genital anomalies, 35, 36, 45
Genital herpes, 41, 78
Germany, prevalence of defects, 23-24
Global Burden of Disease Study,
127-128
Glucose-6-phosphate dehydrogenase
(G6PD) deficiency
cause and risk factors, 28, 32
geographic distribution, 32
interventions, 99-100
malaria resistance in carriers, 32
prevalence, by country, 158-163
screening for, 95, 99-100, 107-108
signs, symptoms, and sequellae, 99, 100,
231
Goiter, 43, 45, 231
Goitrogens, 74
Greece
genetic screening and control program,
97, 104, 109
prevalence of defects, 97, 162-163
Growth retardation, 26, 34, 41, 45, 48
OCR for page 246
246
H
Haiti, HSV seroprevalence in pregnant
women, 41
Hb H disease, 28-29
Health care services. see also Basic
reproductive care; Community
health programs; Treatment of
birth defects; specific services
coordination of, 5, 8,111-112,130-131
evidence-based care, 230-231
Internet communication, 8-9,131-132 India
monitoring health care delivery and
outcomes, 81,131
national policy and leadership, 5, 111-
112,129-133
priority setting, 81,131
recommendations, 7,8-9,80,91
research, 90, 125,132-133
strategies for addressing birth defects,
122-129
terminal and palliative, 91
Hemarthrosis, 102
Hemolysis, 231
Hemophilias A and B
cause and risk factors, 34,102,232
prevalence, 28,34
screening for, 101-102
signs, symptoms, and sequellae, 34,232
treatment, 102
Heparin, 47,48,79
Hepatitis B. 34,102
Hepatomegaly, 28,41,232
Herpes simplex virus (HSV), 35,39,41,78
Heterozygotes, 28,232
HIV/AIDS, 14,34,44,102
Holoprosencephaly, 232
Homozygotes, 28,232
Hong Kong, prevalence of defects, 152-153
162-163,210-211
Hospital admissions and lengths of stay, 15
Human chorionic gonadotropin, 105
Hungary, prevalence of defects, 138-141,
206-207
Hydraencephaly, 232
Hydrocephalus
causes and risk factors, 41,45,48,51
defined, 232
prevalence, 174-183
Hydroxyurea, 98
INDEX
Hyperbilirubinemia, 100, 232
Hyperthermia, 42,232
Hypoglycemic drugs, 45,46
Hypothyroidism. see Congenital
hypothyroidism
Immunization programs, 6,76-78,127. see
also Vaccines
consanguineous marriages, 27
folic acid trials for NTDs, 72
HSV seroprevalence in pregnant women,
41
intervention programs, 82,102
prevalence of defects, 27,29,31,39,99,
138-139,146-147,150-151,154-
161,178-181,184-187,194-195,
204-205,206-207
privatization of health services, 126
rubella susceptibility in pregnant
women, 39
Indonesia
prevalence of defects, 136-137,146-147,
164-165,176-177,184-185,194-
195,204-205
toxoplasmosis seroprevalence in
pregnant women, 40
Infant mortality rates, 5,14-15,26,27,37,
92
by country, 93-95
defined, 232
Infectious agents. see also Congenital
infections; specific agents
defects and risks associated with, 35,36,
37
diagnostic difficulties, 37
prevention of defects from, 37,78,128
teratogenic pathogens, 4,37-41
Inhibin A, 105
Insulin-dependent diabetes mellitus (IDDM),
35,42,52, 55, 232-233
International agencies, 123,127
International Clearinghouse for Birth
Defects Monitoring System
(ICBDMS), 23
International Clinical Epidemiology
Network, 133
OCR for page 247
INDEX
Intervention strategies, 112-113. See also
Basic reproductive care;
Rehabilitation; Treatment of birth
defects
alcohol avoidance during pregnancy, 78-
Ireland, prevalence of defects, 26
Isotretinoin, 46
Israel
79
cost-effectiveness analysis, 81, 106, 132,
229
determinants of success, 6, 69
identification of risk factors, 70
incorporation into existing services, 129- Italy
130
low-cost preventive strategies, 1, 5-6, 42,
71-80
national coordination of, 5, 76, 79, 110-
112
recommendations, 5-7, 7-9, 71, 73, 76,
78, 79, 80
regulatory, 79
rehabilitation-related, 87-92
staging process, 68, 92, 112-113
surveillance and monitoring, 5, 110-112
Intracranial calcification, 41, 233 Jamaica
Intrauterine growth retardation, 50
Iodine
assessment of nutritional status, 73-74
distribution of households by iodized
salt use, 75
goitrogen interference with, 74
intramuscular injection of fortified oil, Japan
74
population with inadequate intakes, 74
recommendation, 76
salt fortification, 1, 6, 74-76
Iodine deficiency disorders
cause and risk factors, 36, 43, 55, 73,
233
prevalence, 43
prevention, 1, 6, 73-76
signs, symptoms, and sequellae, 1, 43-
44, 229, 233
Ionizing radiation, 36, 50-51
Iran
Iraq
247
prevalence of defects, 39, 148-149, 168-
169, 182-183, 190-191, 198-199,
210-211
rubella susceptibility in pregnant
women, 39
Save a Child's Heart Foundation, 84, 85
Wolison Medical Center, 85
HSV seroprevalence in pregnant women,
41
prevalence of defects, 26, 140-141, 182-
183, 188-189, 198-199
Ivory Coast
cytomegalovirus immunity in women, 40
prevalence of defects, 40
J
HSV seroprevalence in pregnant women,
41
prevalence of defects, 39
rubella susceptibility in pregnant
women, 39
3D Projects, 87, 88
HSV seroprevalence in pregnant women,
41
methylmercury poisoning, 50
prevalence of defects, 33, 54, 140-141,
198-199
traditional infant care practices, 54
Jaundice, 41, 107, 233
Jordan
infant mortality rates, 16-17, 94
prevalence of defects, 33, 150-151, 156-
157, 168-169, 180-181
genetic screening program, 15, 97, 104,
109, 129, 130
infant mortality rates, 16-17, 94
prevalence of defects, 170-171, 196-197
infant mortality rates, 16-17, 94
methylmercury poisoning, 50
prevalence of defects, 160-161
hemolytic, 32, 231-232
K
Kernicterus, 32, 107, 233
Kuwait
infant mortality rates, 16-17
prevalence of defects, 148-149
OCR for page 248
248
L
Lapps, traditional infant care practices, 54
Latin America. See also individual countries
genetic screening, 5,100
immunization programs, 76
infant mortality rates, 5,15
prevalence of defects, 33,77,100,140-
141,148-149,154-155,166-167,
180-181,186-187,196-199,202-
203,208-209
privatization of health services, 126
Latin American Collaborative Study of
Congenital Malformations
(ECLAMC), 23,24
Latvia, prevalence of birth defects, 101,
172-173
Lebanon
infant mortality rates, 16-17,94
prevalence of defects, 140-141, 208-209
Leprosy, 44
Lethal traits, 11, 28,111
Libya
infant mortality rates, 16-17, 94
prevalence of defects, 144-145,158-159
Limb reduction deformities, 36,42,44,45,
48,234
Literacy, 18,69
Lithium, 36,45,46,47
Low birth weight, 15,101,233
M
Macrosomia, 233
Malaria resistance in carriers, 28,231
Malaysia
prevalence of defects, 39,136-137,144-
145,158-159,202-203,206-207
rubella susceptibility in pregnant
women, 39
March of Dimes, 128
Maternal risk factors
age over 35 years, 4,6,24,26,71,95,
99,103,230
alcohol abuse, 4,36,48-49,52,55
educational status, 69
epilepsy polytherapy, 48,79
IDDM, 35,42,52,55
infectious agents, 37,38-39,40,41,52
medications, 44-48
nutritional deficiencies, 4,6,42-44
INDEX
occupational exposures to pollutants,
50,79
phenylketonuria, 35,42
public education campaigns, 128
screening for, 95,99,105
Medical Group Mission Christian Medical
and Dental Society, 83
Medications
defects and risks associated with, 35-36,
44-45,48
oxidant drugs, 32,100
public education campaigns, 128
safe for pregnant women, 44,46-47
teratogenic, 4,6,35-36,44-45,48,79-
80,128
Meningoencephalitis, 233
Mental retardation, 1, 2,11,23,26,34,37,
40,41,43-44,48,49,50,101,
108,230,231
Methimazole, 45
Methotrexate, 36,45
Methylmercury, 6,36,50,79
Microcephaly, 34,35,36,41,48,78
Microthalmia, 78
Microtia-anotia, 36
Middle East. See also individual countries
consanguineous marriages, 27
genetic screening, 5
infant mortality rates, 5,15,16-17
prevalence of defects, 29,138-141,146-
147,150-151,156-157,160-161,
168-171,180-181,186-187,194-
197,206-209
Misoprostol (RU-486), 45,48, 79
Moebius sequence, 45
Moldova, CHD treatment, 85
Monitoring birth defects. See Surveillance
ant momtorlng
Morocco, infant mortality rates, 16-17,
94
Mothballs, 32
Myelomenigocele, 233
Myxedema, 43,233
N
Naphthalene, 32
Nasal hypoplasia, 36,48
National Institutes of Health (U.S.), 133
National policy and leadership roles
coordination of services, 130-131
OCR for page 249
INDEX
. . . . . . .
Incorporating Interventions Into existing
programs, 129-130
Internet site, 8-9, 131-132
monitoring health care delivery and
outcomes, 81, 131
priority setting, 131
recommendations, 8-9, 111-112 Oman
research capacity building, 132-133
training standards, 131
Native Americans, traditional infant care
practices, 54
Necrotizing enterocolitis, 45
Neonatal
care, 70-71
hypoglycemia, 45
meconium ileus, 45
screening for genetic disorders, 5, 107-
108
withdrawal syndrome, 45
Neural tube defects
cause and risk factors, 27, 42, 45, 48,
52, 71, 233-234
prevalence, 42, 51-52, 174-183
prevention, 1, 6, 47, 52, 70, 71-73
screening for, 52, 99, 105, 106, 111,
227
signs, symptoms, and sequellae, 51-52
treatment, 51
types, 51-52
Neurological damage and disorders, 35, 36, Panama
40, 42, 43
NGO Networks for Health, 128
Niger, infant mortality rates, 18, 94
Nigeria
CHD treatment, 85
mortality from defects, 33
prevalence of defects, 31, 33, 39, 144-
145, 154-155, 164-165, 176-177
rubella susceptibility in pregnant
women, 39
toxoplasmosis seroprevalence in
pregnant women, 41
Nongovernmental organizations (NGOs),
123, 126, 127, 128
Nystagmus, 33
o
Oculocutaneous albinism
cause and risk factors, 32-33, 234
geographic distribution, 28, 33
249
myths and superstitions, 86
prevalence, 164-167
screening for, 111
signs, symptoms, and sequellae, 33, 86,
234
treatment, 86-87
infant mortality rates, 16-17
prevalence of defects, 39, 186-187
rubella susceptibility in pregnant
women, 39
Operation Smile, 83
Oral contraceptives, 44
Ortolani-Barlow test, 84
p
Pacific Islands, prevalence of birth defects,
29
Pakistan
infant mortality rates, 16-17, 94
prevalence of defects, 146-147, 154-155,
158-159, 176-177, 184-185, 206-
207
Palestine National Authority
CHD treatment, 85
consanguineous marriages, 27
infant mortality rates, 16-17, 27
prevalence of defects, 39
rubella susceptibility in pregnant
women, 39
Papua New Guinea, prevalence of birth
defects, 29
Paramethadione, 45
Patent ductus arteriosus, 39, 45
PATH (Program for Appropriate
Technology in Health), 128
Peru, prevalence of defects, 196-197, 208-
209
Phenobarbital, 48
Phenylalanine hydroxylase, 34
Phenylketonuria
cause and risk factors, 34, 35, 42, 234
prevalence in neonates, 28, 34, 101,
170-173
screening for, 2, 96, 99, 100-101, 108
signs, symptoms, and sequellae, 34, 101,
234
treatment, 42, 101, 108
Phenylpyruvale, 34
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250
Phenytoin, 45,48
Philippines, prevalence of birth defects, 192-
193
Photophobia, 33,234
Pigmentation disorders, 32-33,34
Placental biopsy, 101
Plan International, 128
Poland, prevalence of birth defects, 170-171
Pollutants. See Environmental pollutants
Population and Family Planning Expansion
Project, 128
Preconceptional care, 5,69-70
Pregnancy. See also Maternal risk factors
diagnostic radiography, 50-51
prevention in women over 35,71
safe medications, 44,46-47,48,79
Prenatal care
educational campaigns, 5
screening and diagnosis of defects, 2,5,
70,80,95,97-98,105-107
Prevalence of birth defects. See also Birth
prevalence of defects
defined, 234
determinants, 22,24
Primaquine, 32
Professional societies, 127,128
Propylthiouracil, 45
Protibondhi Foundation, 89
Psychoactive drugs, 45
Psychomotor retardation, 40
Public health educational campaigns, 6,7,
79,86,112,128,130
Purpose of this study, 18-19
Q
Qatar, infant mortality rates, 16-17
R
Radiation. See Ionizing radiation
Recommendations
basic reproductive care, 5-6,9,71
cost-effective interventions, 4,5-7,71,
73,76,78,79,80
education policies, 91
genetic screening programs, 7-8,110
health care improvements for infants, 7,
87,91
national coordination, surveillance, and
monitoring, 8-9,111-112
INDEX
Recreational drugs, defects and risks
associated with, 36
Rehabilitation
community-based, 83,87-88,89,90,91,
127,228-229
institutional and hospital-based care, 90-
91,102
primary health care model, 91
psychosocial support for families, 7,84,
92,127
and quality of life, 71
recommendations, 7,132
research, 132
school-based models, 7,89,90,127
villages, 90
Renal defects, 42,45
Reproductive care. See Basic reproductive
care
Research agenda, 132-133
Retinoids, systemic, 36,45,79
Risk factors. See also Maternal risk factors;
individual birth defects
identification of risk factors, 70
Rubella. See also Congenital rubella
syndrome
defects and risk associated with, 35,37,
52
immunization against, 1, 4,6,38,76-78
incidence, 38
maternal immunity, 38
screening for, 39,78
susceptibility in pregnant women. 39
Rwanda, HSV seroprevalence in pregnant
women, 41
.
S
Salicylates, 44
Sardinia
genetic screening and control program,
97,104,109
prevalence of defects, 97,152-153
Saudi Arabia
consanguineous marriages, 27
infant mortality rates, 16-17,95
prevalence of birth defects, 27,31,54,
146-147,156-157,180-181,194-
197,206-207
traditional infant care practices, 54
Save a Child's Heart Foundation, 84,85
Save the Children, 127,128,133
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INDEX
Screening for genetic disorders
components of, 109
counseling, 8, 98, 99, 102-103, 109, 113
criteria for establishing programs, 68,
96-102
defined, 231
ethical considerations, 108-109, 130
examples of national programs, 15-17,
92, 95, 97-98, 109, 111, 129
introducing services for, 109, 125, 129
neonatal, 2, 5, 95, 107-108, 129
pilot programs, 106
preconceptional, 2, 4, 95, 97, 98, 103-
104, 129
prenatal diagnosis, 2, 5, 80, 95, 97-98,
101, 105-107, 129
purpose of, 92, 95, 113
recommendations, 4-5, 7-9, 110
Screening for infectious diseases, 39
Seizure disorder, 41, 229, 235
Senegal, HSV seroprevalence in pregnant
women, 41
Sexual differentiation disorders, 23, 45
Sickle cell disease
cause and risk factors, 30, 31, 235
geographic distribution, 30, 31, 235
prevalence, 31, 154-157
prevention, 99
malaria resistance in carriers, 28, 31,
231
screening for, 95, 96, 98-99, 104, 107
signs, symptoms, and sequellae, 30-31,
98, 99, 235
treatment, 98
Sierra Leone, prevalence of defects, 154-155
~-
~mgapore
prevalence of defects, 39, 160-161, 198-
199
rubella susceptibility in pregnant
women, 39
Skin disorders, 34, 35, 86
Somalia, infant mortality rates, 16, 95
South Africa
cytomegalovirus immunity in women, 40
genetic screening program, 15, 109, 111,
129
prevalence of defects, 26, 33, 40, 49,
101, 111, 136-137, 144-145,
164-165, 170-171, 174-175, 184-
185, 192-193, 202-203
251
South America. See also Latin America,
individual countries
prevalence of defects, 26, 44, 198-199,
202-203, 208-209
South Korea
cytomegalovirus immunity in women, 40
prevalence of defects, 140-141, 182-183,
188-189, 210-211
Southeast Asia, prevalence of defects, 29.
See also individual countries
Spain
HSV seroprevalence in pregnant women,
41
prevalence of defects, 196-197
Spermicides, 44
Spina bifida, 35, 42, 51, 53, 227, 235
Splenomegaly, 28, 29, 41, 235
Squamous cell carcinoma, 32-33, 235
Sri Lanka
prevalence of defects, 39
rubella susceptibility in pregnant
women, 39
Stem cell transplant, 96-97
Stillbirths, 26, 27, 103, 111, 235
Streptococcus pneumoniae, 31
Streptokinase, 47
Sub-Saharan Africa. See also individual
countries
genetic birth defects, 31
infant mortality rates, 14
Sudan, infant mortality rates, 16-17, 95
Sulfonamide antibiotics and sulfones, 32
Support services for families, 7
Surveillance and monitoring
defined, 235
of delivery of health services and
treatment outcomes, 81, 131
large-scale programs, 23, 24
national coordination of, 5, 110-112
of rubella and CRS, 77-78
Sweden, prevalence of defects, 198-199
Syria, infant mortality rates, 16-17, 95
T
Taiwan
HSV seroprevalence in pregnant women,
41
prevalence of defects, 158-159
Talipes or clubfoot
cause and risk factors, 53, 107
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prevalence, 53, 202-205
signs, symptoms, and sequellae, 53, 235
treatment, 81-83
1 anzama
CHD treatment, 85
mortality from defects, 33
prevalence of defects, 176-177
talipes treatment program, 82
toxoplasmosis seroprevalence in
pregnant women, 40-41
Teratogens. See also Environmental birth
defects
defects and risk factors, 35-36
defined, 235-236
determinants of damage by, 35
regulation of occupational exposures, 6
Tetracycline, 45
Thailand
cytomegalovirus immunity in women, 40
genetic screening program, 98
prevalence of defects, 39, 150-151, 158-
159, 184-185, 204-205
rubella susceptibility in pregnant
women, 39
toxoplasmosis seroprevalence in
pregnant women, 40
Thalassemias
cause and risk factors, 28, 236
geographic distribution, 29-30
malaria resistance in carriers, 28
prevalence, 28, 150-153
screening for, 95, 96-98, 104, 107, 109,
130
signs, symptoms, and sequellae, 28-29,
236
treatment, 28, 96-97, 130
Thalidomide, 36, 44, 45, 79
3D Projects, 87, 88
Thymic defects, 36
Toxoplasma gondii, 40-41
Toxoplasmosis, 35, 39, 40-41, 78, 236
Treatment of birth defects. See also
Rehabilitation
access to, 80
comprehensive, 84
early diagnosis and, 7, 70, 80, 83, 100
parental education component, 82
recommendations, 7
screening and referral, 80
Trimethadione, 45
INDEX
Trinidad and Tobago
prevalence of defects, 39
rubella susceptibility in pregnant
women, 39
Turkey
Trisomy 13, 24, 26, 71, 236
Trisomy 18, 24, 26, 71, 236
Trisomy 2~. See Down Syndrome
~ . .
un~s~a
infant mortality rates, 16-17, 95
prevalence of birth defects, 33, 136-137,
174-175, 184-185, 192-193, 202-
203, 206-207
cytomegalovirus immunity in women, 40
prevalence of defects, 34, 54, 142-143,
150-151, 160-161, 168-169, 172-
173
screening and control programs, 97-98,
102
traditional infant care practices, 54
Tyrosinase, 32, 34
U
Uganda, prevalence of birth defects, 136-
137, 192-193, 202-203
Ultrasonography, 46, 47, 84-85, 99, 105-
106, 107, 231, 236
Unconjugated estriol, 105
United Arab Emirates
consanguineous marriages, 27
infant mortality rates, 16-17
prevalence of birth defects, 27, 138-139
United Kingdom
folic acid fortification of foods, 73
prevalence of defects, 26, 180-181
United Nations Children's Fund, 127
United Nations Development Programme,
127
United Nations Educational, Scientific and
Cultural Organization
Declaration of Education for All
89
United States
folic acid fortification of foods, 73
prevalence of defects, 23-24, 140-141,
180-181, 188-189, 198-199
Urinary tract defects, 36, 45
U.S. Agency for International Development,
128
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INDEX
V
Vaccines. See also Immunization programs
fetal risk, 77
measles-mumps-rubella (MMR), 76, 77
Vaginal carcinoma, 45
Valproic acid, 45, 47, 48
Venezuela, prevalence of birth defects, 196-
197, 208-209
Vision and eye disorders, 33, 35, 37, 39,
40, 41, 43, 48, 50, 78, 234
Vitamin A deficiency, 74
W
Warfarin, 45, 47, 48
World Atlas of Birth Defects, 23
World Bank, 127
World Health Organization, 87-88, 127
Special Programme for Research and
Training on Tropical Diseases,
133
World Summit for Children, 74
253
X
X-linked disorders, 27, 32, 34, 237
y
Yemen, infant mortality rates, 16-17, 95
z
Z.
alre
HSV seroprevalence in pregnant women,
41
prevalence of defects, 192-193
Zambia, "clubfoot clinic," 82
Zimbabwe
prevalence of defects, 33, 136-137, 164-
165, 174-175, 192-193
rehabilitation approaches, 86, 89, 91
Representative terms from entire chapter:
mortality rates
