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Executive Summary ~ ~ ore than 4 million children are born with birth defects each year. |Vi There is little doubt that birth defects cause enormous harm in Bsettings where risk factors for many conditions are elevated and resources for health care are limited. Yet today there is an unprecedented opportunity to prevent many birth defects and reduce the consequences of those that occur, and to do so at reasonable cost. For example, the inci- dence of neural tube defects can be dramatically reduced if women have an adequate intake of folic acid before and during pregnancy. This can be accomplished at low cost by fortifying a widely consumed food staple, such as wheat or corn flour. Impaired mental development due to iodine defi- ciency can also be prevented at relatively low cost through the iodization of salt. Congenital rubella syndrome can be prevented through the immuniza- tion of children and women. And public health education and preventive health care services can reduce the incidence of Down syndrome by discour- aging childbearing in women over 35 years of age and can address the in Hero effects of alcohol by discouraging its use during pregnancy. Improvements in the care of children with birth defects can also be made even with limited resources. Affordable medications, surgical treat- ments, and community-based rehabilitation can help these children lead more normal lives. This care can be made accessible through existing pri- mary health services, which can make referrals to, and receive support from, secondary and tertiary care facilities. Once countries have successfully implemented basic prevention and care, screening programs for common genetic birth defects become an im- 1

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2 REDUCING THE IMPACT OF BIRTH DEFECTS portent mechanism for further lowering infant mortality. Genetic screening can detect risk factors associated with birth defects before conception as well as prenatally. For confirmed severe birth defects, where legal, termina- tion of pregnancy can be offered after nondirective counseling to support each woman in the decision that is appropriate for her. Screening of new- borns has the potential to improve the care of children born with treatable genetic or metabolic diseases. For neonates with phenylketonuria, early appropriate treatment has been shown effective in preventing mental retar- dation and other adverse health outcomes. Although such programs are significantly more expensive than the first set of interventions cited, their implementation is warranted in countries that have already reduced infant mortality from more common causes, because birth defects then become a . , . , . major cause ot Infant morta" sty. Several developing countries are making progress toward reducing in- fant mortality. A smaller number of developing countries with more com- prehensive health care systems are also making significant progress in the prevention and care of birth defects. This report describes a variety of such programs, several in low-income settings. In many developing countries, policy makers have limited knowledge of the negative impact of birth de- fects and are largely unaware of the affordable and effective interventions to prevent these conditions. This report presents a plan of action to address critical gaps in the understanding, prevention, and treatment of birth de- fects in developing countries. BACKGROUND AND SCOPE OF THE STUDY Despite important advances in the prevention and treatment of several birth defects, their incidence and impact remain high in most developing countries. As neonatal mortality falls, birth defects account for an increas- ing proportion of infant deaths. This study addresses the prevention of birth defects and the care provided to children with birth defects by: Reviewing current knowledge and practices relative to a healthy pregnancy; Identifying cost-effective opportunities for the prevention of birth defects, best available care for affected children, and the support of families with a handicapped infant; and Recommending capacity-building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries.) iTwo topics outside the scope of this report perinatal transmission of HIV/AIDS and the effect of tobacco use during pregnancy are discussed in the forthcoming companion report, Improving BirtI7 Outcomes: Meeting tile Challenge in tile Developing World.

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EXECUTIVE SUMMARY 3 This report was developed in conjunction with a companion report, Improving Birth Outcomes: Meeting the Challenge in the Developing World, for which the Institute of Medicine assembled a committee with broad inter- national expertise in fields related to birth outcomes: clinical research, epide- miology, pediatrics, neonatology, obstetrics, genetics, nutrition, and public health. The committee members were also chosen for their first-hand experi- ence in maternal and neonatal health in a wide range of low- and middle- income countries. During the development of that report, the committee was asked to expand its work and specifically consider means of reducing the impact of birth defects in developing countries. Although most committee members give priority to the issues covered in the broader report, they recog- nize that several affordable interventions can have important benefits and that an increasing proportion of the overall health burden will be attributable to birth defects as countries improve infant and neonatal mortality rates. They also recognize the need for improved data on birth outcomes, including the incidence and disease burden of birth defects. The committee had access to a large and varied body of literature from which to derive the data used for this study. These sources include biblio- graphic references on related topics, databases such as MEDLINE, univer- sity libraries, and the Internet sites of organizations associated with re- search and services for birth defects. Although much published information on these disorders in developing countries is found in international and national journals and reports, some evidence appears in local journals, proceedings of meetings, and unpublished reports prepared for the World Health Organization and other international organizations. To explore this knowledge, the committee enlisted experts with recent research experience in developing countries; these experts made workshop presentations or provided information through technical consultations. This combination of sources, the committee believes, accurately repre- sents the current state of knowledge regarding the epidemiology of birth defects; their prevention, treatment, and rehabilitation in developing coun- tries; and the capacity of local health care systems to undertake similar programs. Evaluation of this evidence enabled the committee to identify gaps in knowledge and to propose operational research to improve the effectiveness and affordability of such programs. The committee's findings, strategies, and recommendations are intended to assist local ministries of health, nongovernmental organizations, and academic institutions in devel- oping countries, as well as partner institutions, as they tailor their programs to reduce the impact of birth defects. MAGNITUDE OF THE PROBLEM A birth defect is any structural or functional abnormality in a neonate that is determined by factors operating before conception or during gesta-

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4 REDUCING THE IMPACT OF BIRTH DEFECTS tion. These abnormalities may be apparent immediately after birth or mani- fest later in life. The causes of birth defects can be grouped in three main categories: (1) genetic (25 to 30 percent of total birth defects), which in- cludes chromosomal abnormalities and single-gene defects; (2) environ- mentai (5 to 10 percent of total birth defects), which includes nutritional deficiencies, infectious diseases, maternal medical conditions, teratogenic medications, alcohol and recreational drugs, and teratogenic pollutants; and (3) complex genetic and unknown (65 to 70 percent of total birth defects), which encompasses unknown causes and probably involves more than one gene or environmental factor. Although individually rare, birth defects taken together account for a significant proportion of morbidity and mortality among infants and chil- dren, particularly in areas where infant mortality due to more common causes has been reduced. The prevalence of specific conditions varies widely in different populations. In countries where basic public health services are not available, the birth prevalence of serious birth defects is generally higher than in developed countries. The birth defects discussed in this report were selected from the thousands of known birth defects because of their sever- ity, their prevalence in developing countries, their representation in the medical literature from those countries, and the availability of effective prevention or treatment. At least eight conditions may contribute to a higher incidence of birth defects: (1) inadequate periconceptional intake of folic acid, (2) iodine deficiency in the mother's diet, (3) lack of vaccination against rubella, (4) women giving birth after 35 years of age, (5) consan- guineous marriages, (6) alcohol consumption during pregnancy, (7) the use of teratogenic medications, and (8) the lack of prenatal diagnosis and termi- nation of pregnancies where the fetus is severely affected. FINDINGS AND RECOMMENDATIONS Where resources are scarce, policy makers face difficult choices in allo- cating limited funds for health care. Effective strategies to address birth defects in developing countries must take into account the competing needs for resources and social, economic, and other factors that constrain health care resources. Health care systems and services vary widely both among and within countries. Thus to be effective, strategies and interventions need to be tailored to the specific population being served. The strategy proposed in this report for significantly reducing the im- pact of birth defects has three stages. The first involves the introduction of highly effective and relatively inexpensive interventions to prevent birth defects. The second stage involves improving the care locally available for affected infants. The third involves genetic screening, in the form of (1) preconceptional detection of risk factors associated with birth defects; (2)

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EXECUTIVE SUMMARY s prenatal diagnosis, with termination of pregnancy offered, where legal, as an option for fetuses with confirmed severe birth defects; and (3) neonatal screening and treatment of infants with treatable genetic and metabolic diseases. The third stage has been reached in some countries in Latin America and the Middle East, where successful implementation of the most cost-effective strategies against birth defects and interventions to improve birth outcomes in general have reduced infant mortality rates to approxi- mately 20 to 40 per 1,000 live births, and where additional resources have been available for genetic screening. At all three stages, the process of reducing birth defects involves national leadership and coordination; sur- veillance of birth defects and infant mortality to track progress and identify unrecognized conditions; and monitoring of interventions, even in low- resource settings, to tailor them for maximum effectiveness. Highly Cost-Effective Interventions Medical advances in recent decades have identified a number of afford- able interventions that address the causes and risks of birth defects. Several of these have been shown to be cost-effective in developing countries. These interventions may involve public health education and campaigns; collabo- ration with food manufacturers, health legislators, pharmaceutical compa- nies, and government departments responsible for environmental issues; or the expansion of established services in maternal and child health, infec- tious disease control, nutrition, and other primary care programs. This report describes interventions for prevention, counseling and diagnosis, treatment, and rehabilitation, all of which are aimed at reducing the impact of birth defects. For these interventions to be fully effective, however, a strong program of basic reproductive care must be available. Recommendation 1. Basic reproductive health care services an essen- tial 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 cam- paigns to stress the importance of such care, and Neonatal care that permits the early detection and best care lo- cally available for management of birth defects. Recommendations 2 to 8 propose specific interventions that can be considered by health ministries in conjunction with their own health care priorities and implemented within the national framework of public health education and basic reproductive care.

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6 REDUCING THE IMPACT OF BIRTH DEFECTS Recommendation 2. Women should be discouraged from reproducing after age 35 to minimize the risk of chromosomal birth defects such as Down syndrome. 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. This is best accomplished through fortification of widely consumed staple foods. Where fortification is not feasible or is incomplete, daily supplementation programs should be provided for women before and during pregnancy. Recommendation 4. A program of universal fortification of salt with 25-50 milligrams of iodine per kilogram of salt used for human and animal consumption should be adopted to prevent iodine deficiency disorders. Recommendation 5. Women should be vaccinated against rubella before they reach reproductive age to prevent congenital rubella syndrome. Recommendation 6. Education programs and public health messages should course! women to limit or avoid alcohol consumption during pregnancy including during the early weeks. Recommendation 7. 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. Recommendation 8. Ministries of public health, in collaboration with other government departments in developing countries, should estab- lish regulations to reduce occupational exposure to teratogens such as mercury and other pollutants and create programs to raise public awareness of the health risks, including birth defects, associated with these substances. The burclen imposed by birth defects justifies wiclespreaci implementa- tion of these cost-effective interventions. Their success will clepenci upon investments in personnel, training, micronutrients, vaccines, medications, and infrastructure. Variability among communities in the perception of birth defects, expectations of what meclical care can and should provide, and the cost of particular interventions complicate the identification of an effective, afforciable intervention. Optimal results are obtained when ser- vices reflect local benefits and costs and when community input and evalu- . . atlon are usec to improve programs.

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EXECUTIVE SUMMARY 7 Recommendation 9. Where possible, cost-effective interventions to pre- vent birth defects should be provided through public health campaigns and the primary health care system. The resources necessary for their success, including staff, training, and adequate supplies of nutrients, medicines, and vaccines should be provided as well. Provision of the Best Locally Available Care While some disorders cannot be treated at all or only at great expense, others can be partially or largely corrected with affordable therapies. Early diagnosis provides the best chance for the effective treatment of birth defects. Recommendation 10. Children and adults with birth defects should receive the best medical care that is available in their setting, including, where possible, medication and surgery. Treatment should be under- taken as early as possible and be provided through an organized refer- ral process. It is recommended that each country establish clear, realistic priorities for the treatment of birth defects. This process involves balancing costs and benefits for specific neonatal therapies and surgeries against those for other health care services. It includes consideration of promising models of low- cost rehabilitation services for those with birth defects, as well as support services for their families. Effective rehabilitation services have been estab- lished in settings with very limited financial and professional resources. Recommendation 11. Parents of children with birth defects should be guided to organizations that provide rehabilitation for the child and psychosocial support for the child and family. Education policies at the national and local levels should ensure that all children, including those with birth defects, receive appropriate schooling. Genetic Screening to Further Reduce the Impact of Birth Defects Once countries have implemented the basic, highly effective strategies of reproductive health care to reduce neonatal and infant mortality outlined above, further reductions can be accomplished by addressing genetic risks for birth defects. Recommendation 12. Countries with comprehensive systems of basic reproductive health care that have lowered infant mortality rates to the range of 20 to 40 per 1,000 can further reduce infant mortality by establishing genetic screening programs. These programs should ad- dress severe, locally prevalent conditions with clear screening and diag-

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8 REDUCING THE IMPACT OF BIRTH DEFECTS noetic tests; effective, acceptable strategies for prevention or treatment; and be cost-effective. Counseling, with the goal of enabling individuals to make free and informed health care decisions, including the choice, where legal, to terminate a pregnancy in the case of a severe birth defect, should be integral to all screening and diagnostic programs. Ongoing Needs for National Coordination, Surveillance, and Monitoring of Interventions The impact of individual birth defects and of birth defects in the aggre- gate must be known if the greatest needs are to be identified and addressed. However, a review of epidemiological and burden-of-disease statistics on birth defects in developing countries reveals a substantial lack of definitive data. Much of the information has either been extrapolated from statistics for industrialized countries or derived from hospital-based studies in devel- oping countries. In both cases, the data are thus subject to systematic . . unit erest~mat~on. National baseline epidemiological data to identify patterns of occur- rence of birth defects can help establish priorities for interventions and may identify unusually prevalent birth defects. Follow-up data will enable coun- tries to track trends, calculate the burden of disease associated with birth defects, and monitor the cost and effectiveness of interventions. Recommendation 13. Collection of epidemiological data on birth de- fects is necessary to understand the extent of the problem and identify intervention priorities. Depending on the infant mortality rate, the ca- pacity of the health care system, and the resources available, countries should incrementally develop the following: National demographic data on neonatal and infant mortality and morbidity, Data on causes of death, Documentation of birth defects using standardized protocols for diagnosis, and Ongoing monitoring of the common birth defects in a country or region. National programs of basic reproductive health should set uniform standards for training and performance; collect, interpret, and act on sur- veillance data; and foster communication among health care providers, researchers, and policy makers. Many organizations contribute to the strengthening of health care in developing countries. However, a coordi- nated national effort is necessary to support comprehensive reproductive care. Internet capabilities can facilitate these functions and provide access . . . . .. ..

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EXECUTIVE SUMMARY 9 to the information and expertise that will be needed as countries develop their own programs to address birth defects and other issues in reproduc- tive care. Recommendation 14. Each country should develop a strategy to reduce the impact of birth defects, a framework of activities by which this can be accomplished, and the commitment of health leaders to accomplish these goals. National programs of basic reproductive health should collect and interpret surveillance data, set uniform standards for the training and performance of health care providers, and foster communication among health care providers, researchers, and policy makers. Recommendation 15. Each country should strengthen its public health capacity for recognizing and implementing interventions that have proven effective in reducing the impact of birth defects. This includes monitoring and tuning interventions for clinical- and cost-effectiveness in the local setting. CONCLUSION Traditionally, health initiatives in developing countries have focused on the control of infectious diseases and malnutrition to reduce infant and child mortality. The next steps to reduce infant mortality and mitigate the impact of severe, lifelong disability can involve low-cost strategies to pre- vent severe birth defects. At minimal cost, countries can discourage women from reproducing after they reach 35 years of age, reduce the incidence of neural tube defects by fortifying a staple food with folic acid, and reduce iodine deficiency disorders by fortifying salt with iodine. A second set of proven and cost-effective interventions involves improved treatments to reduce disabilities caused by birth defects. A third set interventions, suitable for settings in which more comprehensive health services are available, infant mortality is lower, and birth defects have become a leading cause of neonatal mortality involves preconceptional and prenatal screening to pre- vent genetic birth defects. To achieve these objectives, senior policy makers must recognize the enormous personal and societal consequences of birth defects and provide leadership to reduce their impact. Surveillance, by providing data on the magnitude of birth defects, can facilitate action. Surveillance data are also key for setting priorities for specific interventions. It is hoped that the recommendations in this report will contribute to renewed efforts to reduce the impact of birth defects in the developing world.

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