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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

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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

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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

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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

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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

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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

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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

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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

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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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252 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