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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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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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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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Representative terms from entire chapter:
infant mortality
