Reducing Birth Defects Meeting the Challenge in the Developing World (2003) / Chapter Skim
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3 Interventions to Reduce the Impact of Birth Defects
3 Interventions to Reduce the Impact of Birth Defects
Pages 68-121
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From page 68... ...
In low-resource settings this may be very limited, but as the level of health care improves, the ability to diagnose and treat birth defects can be expanded and the quality of medical support for rehabilitation programs can be improved. Once health care has reduced infant mortality due to other causes, screening for genetic defects becomes cost-effective and can further reduce the impact of birth defects.
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From page 69... ...
At each stage of development, health care services also need national leadership and coordination, surveillance to provide a sound evidence base for setting public health priorities, and monitoring of interventions to ensure their clinicaland cost-effectiveness. BASIC REPRODUCTIVE CARE Basic reproductive care, which includes family planning, and preconceptional, prenatal, and neonatal care, is the foundation for improving neonatal and infant mortality and reducing birth defects.
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From page 70... ...
when consumed during the periconceptional period. Prenatal Care An early prenatal visit permits the identification and review of risk factors for the pregnancy and prenatal diagnosis if the fetus is at high risk of having a birth defect.
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From page 71... ...
Recommendation 1. Basic reproductive health care services an essential component of primary health care in all countries should be used to reduce the impact of birth defects by providing: · Effective family planning, · Education for couples on avoidable risks for birth defects, · Effective preconceptional and prenatal care and educational campaigns to stress the importance of such care, and · Neonatal care that permits the early detection and best care locally available for management of birth defects.
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From page 72... ...
of China, pregnant women received daily supplements of 400 micrograms of synthetic folic acid before and during the first 28 days of pregnancy. This prevented 85 percent of NTDs among pregnant women taking folic acid more than 80 percent of the time (Berry et al., 1999)
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From page 73... ...
Recommendation 3. All women of reproductive age should routinely receive 400 micrograms of synthetic folic acid per day for the reduction of neural tube defects.
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From page 74... ...
, which is among the most cost-effective health interventions (WorId Bank, 19931. However, since this estimate does not encompass an assessment of the full impact of IDDs, the actual cost is likely to be lower (WorId Health Organization, United Nations Children's Fund, International Council for the Control of Iodine Deficiency Disorders, 19991.
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From page 76... ...
The decision to introduce rubella vaccination into a country or region should be based on the susceptibility of women of childbearing age, the burden of disease due to congenital rubella syndrome (CRS) , the strength of the measles immunization program, the infrastructure and resources for immunization, the record of injection safety, and other priority uses for limited health resources (WorId Health Organization, 2000b)
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From page 77... ...
. Vaccination of women of childbearing age against rubella has been shown to have a benefit-to-cost ratio of 11 to 1 in the United States (Hatziandreu et al., 1994)
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From page 78... ...
Women should be vaccinated against rubella before they reach reproductive age to prevent congenital rubella syndrome. Preventing Other Congenital Infections Primary prevention of maternal infection with herpes simplex virus and Toxoplasma gondlii is the only way to prevent mother-to-child transmission of these agents.
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From page 79... ...
Education programs and public health messages should educate health care providers and women of childbearing age about the importance of avoiding locally available teratogenic medica· ~ tlons ~ urlng pregnancy. As with teratogenic medications, public awareness of the risks for birth defects associated with environmental pollutants is an important means of prevention.
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From page 80... ...
Recommendation 9. Where possible, cost-effective interventions to prevent birth defects should be provided through public health campaigns and the primary health care system.
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From page 81... ...
The surgical techniques employed depend on the severity of the condition, the age of the patient, and the health care setting (Alexander et al., 1999; Porter, 1987; Tellis, 19881. Early surgery may be appropriate for a child whose family is unlikely or unable to comply with routines for manipulation of the foot; however, the risk of injury during complex procedures increases significantly for very small feet (Turco, 19741.
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From page 82... ...
Other authors have also described low-cost, locally appropriate technologies for treating talipes (Sengupta, 1987; Eyre-Brook, 1986; Hadidi, 19741. Box 3-3 describes simple surgical techniques developed in Calcutta to correct talipes.
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From page 83... ...
Postcorrection follow-up for talipes could be incorporated into local community-based rehabilitation or maternal and child health programs (Scott and Evans, 19971. Cleft lip and/or cleft palate Early establishment of feeding is a priority for neonates with cleft lip and/or cleft palate.
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From page 84... ...
Comprehensive treatment, which is not accessible for most developing country populations, can include speech and language therapy, preventive and restorative dental care, orthodontics, secondary surgery, otolaryngology for hearing problems, and psychological counseling (Cockell and Lees, 20001. Isolated cases of cleft lip and palate show strong familial aggregation with a significant genetic component (Christenson and Mitchell, 19961.
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From page 85... ...
INTERVENTIONS TO REDUCE THE IMPACT OF BIRTH DEFECTS 85 detection rate but may have a higher false-positive rate in primary DDH screening. Clinical examinations in industrialized countries have been shown to detect approximately three-quarters of neonates whose hips are or will become dislocated.
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From page 86... ...
Oculocutaneous albinism For affected children, the symptoms of the disorder can be treated, and health education can improve the home care (and, eventually, self-care) of affected children and dispel misconceptions that surround the condition.
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From page 87... ...
Since 1983, WHO has produced training manuals for CBR workers and promoted CBR as the most appropriate mode! of rehabilitation for people with disabilities, including those due to birth defects (WorId Health Organization, 1980, 1993; Helander et al., 19891.
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From page 88... ...
The advantages of the CBR approach are its accessibility to low-income families and its ability to work with low-cost, locally available resources. The disadvantages are the lack of skilled resources, funds, and volunteered time; the difficulty of monitoring the quality of services and effectiveness in reaching the desired outcomes; and the inadequate opportunities for ongoing training and advancement of rehabilitation workers.
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From page 89... ...
Given the already overcrowded environment of government schools in most low-income countries, a major commitment of resources is required to accommodate these children. Institution- and hospital-based models Institutional care and hospital-based services for children with birth defects are present in many low-income countries but serve only a small fraction of the children who need them.
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From page 90... ...
9o REDUCING THE IMPACT OF BIRTH DEFECTS disability, particularly those at the district and provincial levels, now provide technical, administrative, and training support to community-based programs through outreach activities. Rehabilitation villages have been constructed in rural hospitals so that disabled children and their caregivers can be accommodated for group activities and workshops.
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From page 91... ...
is based in the primary health care system and is supported by a national strategy for rehabilitation of children and adults with disabilities including those from birth defects. Rehabilitation in Zimbabwe is an example of this mode!
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From page 92... ...
Education policies at the national and local levels should ensure that all children, including those with birth defects, receive appropriate schooling. SCREENING FOR GENETIC DISORDERS Over the past four decades, infant mortality in developing countries has declined, though there is still room for considerable improvement (Table 3-11.
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From page 93... ...
1960 1999 Afghanistan 21,923 215 165 Albania 3,113 112 29 Algeria 30,774 152 36 Angola 12,479 208 172 Argentina 36,577 60 19 Armenia 3,525 38 25 Azerbaijan 7,697 55 35 Bangladesh 126,947 149 58 Barbados 269 74 14 Belarus 10,274 37 23 Benin 5,937 176 99 Bolivia 8,142 152 64 Bosnia and Herzegovina 3,839 105 15 Brazil 167,988 115 34 Bulgaria 8,279 49 14 Burkina Faso 11,616 181 106 Burundi 6,565 151 106 Cambodia 10,945 86 Cameroon 14,693 151 95 Central African Republic 3,550 187 113 Chad 7,458 195 118 Chile 15,019 107 11 China 1,266,838 150 33 Colombia 41,564 82 26 Congo 2,864 143 81 Congo, Democratic Republic 50,335 175 128 Costa Rica 3,933 80 13 Cote d'lvoire 14,526 195 102 Croatia 4,477 70 8 Cuba 11,160 39 6 Czech Republic 10,262 22 5 Dominican Republic 8,364 102 43 Ecuador 12,411 107 27 Egypt 67,266 189 41 El Salvador 6,154 130 35 Eritrea 3,719 170 66 Ethiopia 61,095 180 118 Gabon 1,197 171 85 Georgia 5,006 52 19 Ghana 19,678 127 63 Guatemala 11,090 136 45 Guinea 7,360 215 115 Haiti 8,087 169 83 (continued)
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From page 94... ...
94 TABLE 3-1 continued REDUCING THE IMPACT OF BIRTH DEFECTS Total Infant Mortality Population, Rate per 1,000 1999 Live Births Country (thousands) 1960 1999 Honduras 6,316 137 33 Hungary 10,076 51 9 India 998,056 146 70 Indonesia 209,255 128 38 Iran 66,796 164 37 Iraq 22,450 117 104 Jamaica 2,560 58 10 Jordan 6,482 97 29 Kazakhstan 16,269 55 35 Kenya 29,549 122 76 Korea, Democratic People's Republic 23,702 85 23 Korea, Republic of 46,480 90 5 Kyrgyzstan 4,669 135 55 Lao People's Democratic Republic 5,297 155 93 Latvia 2,389 35 17 Lebanon 3,236 65 28 Lesotho 2,108 137 93 Liberia 2,930 190 157 Libya 5,471 159 19 Lithuania 3,682 52 18 Madagascar 15,497 219 95 Malawi 10,640 205 132 Malaysia 21,830 73 8 Mali 10,960 293 143 Mauritania 2,598 180 120 Mexico 97,365 94 27 Moldova, Republic of 4,380 64 27 Mongolia 2,621 61 Morocco 27,867 132 45 Mozambique 19,286 180 127 Myanmar 45,059 169 79 Nepal 23,385 212 75 Nicaragua 4,938 130 38 Niger 10,400 211 162 Nigeria 108,945 123 112 Pakistan 152,331 139 84 Panama 2,812 58 21 Papua New Guinea 4,702 137 79 Paraguay 5,358 66 27 Peru 25,230 142 42 Philippines 74,454 80 31 Poland 38,740 62 9 Romania 22,402 69 21 Russian Federation 147,196 48 18 Rwanda 7,235 124 110
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From page 95... ...
Genetic screening programs can involve preconceptional detection of risk factors associated with birth defects, also prenatal and neonatal screening and diagnosis of birth defects. The criteria for establishing screening
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From page 96... ...
Criteria for Establishing Genetic Screening Programs for Genetic Disorders Screening programs need to be tailored to the health priorities of each community as cletermineci by epiclemiology, demographics, resources, and the capacity of health care services. The following prerequisites guicle the determination of which birth defects can benefit from genetic screening (Simpson and Golbus, 1992; Cuckle and Walci, 20001: · The target condition is serious and relatively common.
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From page 97... ...
A premarital screening program in the Aegean region of Turkey tested nearly 10,000 couples over 4 years and found a p-thalassemia trait prevalence of 2.6 percent in that population. Prenatal screening of the same population identifies at-risk couples who are offered prenatal diagnosis
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From page 98... ...
Where genetic screening is not available, couples who have given birth to a child with SCD should be advised on the risk for future pregnancies. Where screening for sickle cell trait and disease is undertaken, neonatal screening permits the early treatment of SCD.
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From page 99... ...
Where treatment for SCD is unavailable such as in tribal areas of Maharashtra, India a combination of health education and genetic screening has been suggested as the most effective means of reducing the impact of SCD (Kate, 20011. Glucose-6-phosphate debydrogenase deficiency The primary effects of G6PD deficiency are hematological (Verjee, 1993)
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From page 100... ...
Prenatal screening programs have not become routine even in developed countries (Haddow et al., 19991. The most important diagnostic test for CF in developing countries is the sweat electrolytes test (Mahashur, 19931.
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From page 101... ...
Because early dietary treatment has proven successful, affected women now become potential mothers (Cunningham, 20001. Avoiding mental retardation and other problems in their offspring requires that they resume the restricted diet prior to and throughout pregnancy to avoid phenylalanine levels that would be toxic to the fetus and cause severe mental retardation, birth defects, heart disease, and low birth weight.
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From page 102... ...
Prior to screening, counselors describe the conditions that can be identified and the available screening tests, diagnostic methods, and options for preventing or treating birth defects. The limitations of screening tests are explained, along with the goal of identifying high-risk pregnancies that may require invasive follow-up tests to obtain a diagnosis.
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From page 103... ...
A genetic history explores whether a couple is at risk for inherited disorders or for chromosomal abnormalities or mutations that could result in birth defects. Maternal age over 35 years is the most common risk factor for chromosomal abnormalities.
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From page 104... ...
Family planning services provide an ideal setting for genetic screening and the use of genetic histories for the preconceptional prevention of birth defects.
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From page 105... ...
Prenatal screening programs can effectively address populations at high risk for Down syndrome, NTDs, and single-gene disorders (Baird, 19991. Screening and diagnosis take place before 20 weeks' gestation to allow parents to consider the option of pregnancy termination in the case of severe birth defects or to plan the time and place of delivery in cases where surgery is necessary at birth.
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From page 106... ...
Well-planned screening programs are likely to be cost-effective since the treatment and rehabilitation of individuals with severe birth defects are expensive and since many couples choose to terminate a pregnancy if a severe birth defect is identified (Baird, 19991. Amniocentesis and chorionic villus sampling These sampling procedures provide cells of fetal origin that can used to identify a chromosomal condition by karyotyping or DNA analysis or a genetic disorder by enzymatic or DNA analysis.
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From page 107... ...
Neonatal Screening Although neonatal screening generally plays a smaller role than prenatal screening, it provides an important opportunity to identify birth defects early in the neonatal period and be able to initiate therapy or surgery early in life. Early, appropriate treatment can prevent or reduce some lethal or disabling sequelae of birth defects.
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From page 108... ...
Priority should be given to genetic tests involving birth defects that impose the heaviest burdens on the population as a whole. In particular, efforts should be directed at the primary care level toward improving access to genetic screening where it has been judged to be cost-effective (World Health
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From page 109... ...
Each country will have its own timing on the introduction of genetic screening programs, which is influenced by national and local priorities, the prevalence of preventable birth defects in the population, health care capacity, financial and human resources, and the ability to dedicate substantial additional resources. For many countries, this is likely to become important when other health interventions have reduced the infant mortality rate to the range of 20-40 per 1,000 live births.
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From page 110... ...
As a result, data on total infant mortality and mortality due to birth defects vary widely and are almost certainly underestimates. Developing countries differ widely in their needs and resources for the establishment of data systems.
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From page 111... ...
National leadership
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From page 112... ...
Providing the best possible care for patients with birth defects begins with the recognition that such care may require significant financial commitment and that the care that can be provided will vary with the setting(WorI3 Health Organization, 1985, 1997, l999;Carey, 19921. Robust programs of basic reproductive health care and public health campaigns provide a framework for new efforts to reduce the impact of birth defects.
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From page 113... ...
The screening and diagnosis of genetic disorders can further reduce infant mortality when they are tailored to national health priorities and address common and severe birth defects that can be accurately detected and effectively prevented or managed. Counseling, with the goal of enabling individuals to make free and informed health care decisions, is an essential part of screening and diagnostic programs.
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From page 114... ...
2000. Folic acid and the prevention of disease.
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From page 115... ...
2002. Folic acid supplementation and prevention of birth defects.
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From page 116... ...
Birth Defects Original Article Series 28 (3)
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From page 117... ...
2000. Neonatal screening for sickle cell disease.
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From page 118... ...
2002a. Inertia on folic acid fortification: Public health malpractice.
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From page 119... ...
Birth Defects Original Article Series 28(3)
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From page 120... ...
Acute chest syndrome in sickle cell disease: Clinical presentation and course. Blood 89(5)
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From page 121... ...
1-122. World Health Organization, United Nations Children's Fund, International Council for the Control of Iodine Deficiency Disorders (WHO, UNICEF, ICCIDD)
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