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OCR for page 122
4
Incorporating Care for Birth Defects
into Health Care Systems
Hearth care systems and the services they provide vary widely among,
and even within, countries. National and local priorities, infrastruc-
ture, and financial and human resources each play a role in deter-
mining the extent and speed with which interventions addressing birth
defects can be incorporated into primary care and thus made widely avail-
able. This chapter describes strategies for introducing interventions for the
prevention and care of birth defects into health care systems in developing
countries, the coordination of these strategies at the national level, and the
building of infrastructure to support and strengthen reproductive health
care and reduce the impact of birth defects.
STRATEGIES FOR ADDRESSING BIRTH DEFECTS
Several low-cost preventive strategies for reducing the impact of birth
defects, described in Chapter 3 and summarized in Table 4-1, can be made
widely available through community health programs. This section de-
scribes the steps to achieve this goal, also care for children who have birth
defects, and, for countries that have been successful in lowering infant
mortality through effective health care services, the introduction of genetic
screening and diagnosis for common and severe birth defects.
Enhancing Current Reproductive Health Services
Primary health care in almost all settings includes maternal and child
health (MCH) services, which include reproductive health. The services
122
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INCORPORATING CARE FOR BIRTH DEFECTS
TABLE 4-1 Interventions to Reduce the Impact of Birth Defects
123
Program Area
Reproductive health
care and family
planning
Risk Factors To Be Addressed
Before and During Pregnancy
Interventions
Unwanted births
Pregnancy in women over 35
Preexisting maternal diseases
Micronutrient
deficiencies
Exposure to
teratogens
Iodine
Folic acid
Rubella
Alcohol use
Teratogenic medications
Environmental teratogens
Family planning information
Education for couples on
birth defects
Neonatal care
Universal access to iodized
salt
Fortification of staple food
with folic acid
Vaccination
Public health messages and
. . . .
course. sing on. .~m~t~ng or
avoiding alcohol use and
. .. .
avowing teratogen~c
medications and environ-
mental teratogens
Regulations on environ-
mental teratogens
themselves vary with the needs and resources of the community and with
the level of access to secondary and tertiary care for more complex and
difficult health conditions.
Primary, secondary, and tertiary care
Primary care is provided at the local level. There are very few nurses and
physicians in most developing countries (see Figures 4-1 and 4-2), and most
of them practice in urban settings. The majority of people receive care at
community health centers served by nonspecialized health workers or by
nurses or physicians linked to specialist resources at secondary and tertiary
health centers. The introduction or expansion of prevention and care for
birth defects in developing countries is best undertaken in primary health care
facilities. Although primary care providers may have rudimentary training
and few medications or diagnostic tools, they can nonetheless provide impor-
tant preventive services, such as family planning, information on the causes
of birth defects, micronutrient supplements, immunization, and guidance on
avoiding teratogens. By forging strong linkages with secondary, tertiary, and
national health care centers and by collaborating with nongovernmental or-
ganizations (NGOs) and international agencies, primary care services can
increase their ability to address birth defects within communities.
Secondary care is provided in district or regional hospitals, which are
staffed by general physicians, medical technicians, and nurses. These facilities
OCR for page 124
124
REDUCING THE IMPACT OF BIRTH DEFECTS
1 000
900
o 800
co
Q 700
o
Q 600
Go
0 500
o
~, 400
Q
a, 300
u,
z 200
100
~ ~ ~ ~ cat ~ ~ ~ ~ ,~ c ~ ~ ~ co co co co co ~ co
Oh ~ CO CO ~ ~ s ~ Q ~ ° ~ 'A `o ~ ~ ~ E ~ m
~ C ~ ~ ~ ~ ~
._ CO S ,_ ~~ ,~
, s , N
~ C Cm ,~ ~ ~ — Cd C s
E c,3 it, O ~ ' m E t
~ m
FIGURE 4-1 Number of nurses per 100,000 population in selected countries. Black
bars represent developed countries. Gray bars represent developing countries.
SOURCE: World Health Organization, 1998a.
600 -
500 -
o
O 400
lo
lo
lo
-
c
.m
to
o)
c
300 -
200 -
100 -
O-
. _ _ _ ~ ..... ..... .... ..... .... .... ..... - ..... ..... - 1:::::~ [::::::1 1:::::1 1:::::1 F::::::l t::::~ 1::::::~ I:::::1 1:::::1 1!~
(D or ~ c ~ ~ ~ c ~ ~ ~ c ~ ~ ~ — A (D ~ ~ ~ ~ ~ c ~ (D ~ c c
~ ~ ~ ~ ° c' ~ ~ c ~ ~ ~ `' ~ o m `~ ~ ~ ~ C C ~ ° ° ~ ~9 -C U' `6 E
(I) ~ — N ~
~ Y ~ (G ~ ~ ~ C
FIGURE 4-2 Number of physicians per 100,000 population in selected countries,
1990-1998. Black bars represent developed countries. Gray bars represent devel-
. .
Oplng countries.
SOURCE: World Health Organization, 1998a.
can treat more severe and complex medical conditions and provide routine
surgery; they also have access to diagnostic equipment and laboratory facili-
ties. District hospitals can expand the services offered at primary care centers
by providing essential medications and vaccinations on-site and by using
mobile care teams. Medical professionals from secondary facilities can sup-
port and train community health care workers, make regular visits to primary
OCR for page 125
INCORPORATING CARE FOR BIRTH DEFECTS
125
care centers to monitor their reproductive health care, review more difficult
cases, and assist in identifying patients in need of referral. Training of com-
munity health workers can include, along with the care of other conditions,
instruction on the prevention of birth defects, counseling and recording of
family histories, and identification of patients requiring referral.
Tertiary care, the most specialized health care, is provided in larger,
urban hospitals. Because health care resources are limited and the operating
costs of tertiary centers are high, these facilities are limited in number in
developing countries. As part of reproductive care for patients referred
from primary care centers, tertiary care hospitals can provide genetic screen-
ing (preconceptional, prenatal, and postnatal) and surgery to correct cer-
tain birth defects. Tertiary care centers can also serve as facilities for collect-
ing epidemiological data, providing staff training, creating and distributing
educational health materials, and conducting clinical and operational re-
search (WorId Health Organization, 19991.
Support of primary and secondary health care facilities by tertiary centers
can contribute to the development and maintenance of affordable, good-qual-
ity health care. Studies conducted at tertiary centers can identify common birth
defects and their risk factors, also preventive strategies, and effective treatment
and rehabilitation. Most important is the evidence base for determining na-
tional health priorities and community health care services. Moreover, training
curricula developed at these facilities can be adapted for staff at secondary and
primary care levels (Lansang and Olveda, 19941.
Capacity for expanded services
Provision of comprehensive preventive and therapeutic care for birth
defects is a long-term goal for most countries. However, the low-cost preven-
tive strategies recommended in this report warrant immediate evaluation and
incorporation into primary care services. Continuing progress toward com-
prehensive services can be achieved through an iterative process that involves
introducing an intervention that has been proven affordable and effective in a
similar setting, then evaluating and improving its effectiveness in the local
setting all with support and oversight from secondary and tertiary centers.
Involving the relevant nonhealth sectors education, social services, indus-
try, and environment in the development of interventions can advance
progress toward common goals. International organizations can also assist
countries in the implementation of cost-effective programs.
Laboratory standards
The diagnosis of most genetic disorders and birth defects requires spe-
cialized tests. Because specimens are generally processed in regional labora-
OCR for page 126
26
REDUCING THE IMPACT OF BIRTH DEFECTS
tories to maintain quality and cost control, systems are needed for the
transportation of specimens from primary and secondary health centers to
tertiary health centers (WorId Health Organization, 19991. Laboratory staff
should be accredited, and facilities and performance monitored, in order to
maintain accurate, reliable diagnostic services. Standardization of labora-
tory tests requires external quality assessment, training, and education
(Bunyaratvej, 1 9991.
T· ~
raining
Development of staff expertise and provision of ongoing training are
essential to improving reproductive health care. The framework for train-
ing, as for specific interventions themselves, should be based on evidence of
proven effectiveness and affordability. Important areas for training include
clinical practice or treatment, epidemiology, counseling, rehabilitation, and
operational research.
Collaborations
Alliances between public health care providers and private physicians,
educators, community organizations, community-based NGOs, and reha-
bilitation programs can improve the effectiveness of interventions in reduc-
ing the impact of birth defects.
Private Physicians. Health care services in several Latin American coun-
tries and in India have been privatized over the last two decades, so that
much of primary care in these countries takes place in the private sector. In
India, for example, private physicians provide about half of all primary care
and as much as 80 percent in some states. Even the rural and urban poor
consult private physicians because they are accessible, charge a relatively
low consultation fee, and are widely perceived as providing better care than
the public health system (Chisholm et al., 20001.
Educators. Health education has been incorporated into many school
curricula. This should include instruction on reproductive health and well-
being and the locally relevant risks for birth defects.
Community Organizations. Although relatively few and often poorly
funded, community organizations can facilitate mutual support and sharing
of experience among patients, families, and caregivers. NGOs and parent
groups can together establish facilities such as vocational training centers,
day care centers, and supported-living facilities staffed by community vol-
unteers. By educating the community about birth defects, these local groups
can change negative attitudes and draw the attention of policy makers to
the needs of affected individuals and their families.
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INCORPORATING CARE FOR BIRTH DEFECTS
127
NGOs. For several community-based NGOs, health care services are
part of a broad development agenda. These organizations are found most
commonly in less developed regions that tend to be underserved by govern-
ment-provided health care services, such as India and sub-Saharan Africa.
Community-Based Rehabilitation (CBR) Programs. These low-cost pro-
grams coordinate medical guidance and community resources in the reha-
bilitation of children and adults disabled by birth defects, allowing them to
live as normally as possible (see Chapter 31. Some of the most successful
CBR programs are able to mainstream disabled children into public educa-
tion at the earliest opportunity and assist them in the transition from school
to employment. In addition to providing long-term care and support for
patients and their families, CBR addresses the isolation and stigma often
experienced by disabled persons. These programs can be linked to and
supported by institutional and hospital-based programs to create a compre-
hensive rehabilitation service.
International Partnerships. Building the capacity of developing coun-
tries to provide strong reproductive health care requires international
contributions of expertise and resources. Two kinds of international part-
nership that can be especially effective are professional societies and inter-
. . .
natlona" . organizations.
The international community of health care professionals can advocate
that birth defects receive attention from health policy makers commensu-
rate with the contribution of the disorders to the overall burden of disease.
Such attention is particularly important for conditions that result in stigma-
tization. Professional societies can provide a realistic perspective to policy
makers who are often reluctant to provide treatment and rehabilitation to
patients unless they perceive an economic return to the community and
can assist them in developing cost-effective health care policies.
WHO has supported the implementation of interventions to reduce the
impact of birth defects in developing countries, proposed guidelines for
genetic services, and addressed ethical issues arising from genetic services
(WorId Health Organization, 1998b, 1999, 20011. The United Nations
Children's Fund (UNICEF) and the United Nations Development Pro-
gramme have supported vaccination and other programs for the control of
infectious diseases. Both organizations could also take an active role in
reproductive health and the reduction of birth defects. Save the Children
has initiated a global program on reproductive health in developing coun-
tries. The World Bank and other development banks also have active pro-
grams on reproductive health. In addition, the World Bank fostered devel-
opment of the disability-adjusted life years (DALY) measure and the
estimation of disease burden in the Global Burden of Disease Study (WorId
Bank, 19931. This frontier could be further advanced with efforts to better
estimate the disease burden of birth defects among children in developing
OCR for page 128
28
REDUCING THE IMPACT OF BIRTH DEFECTS
countries, an area in which the evidence base is particularly limited. The
March of Dimes has coordinated professional organizations in the develop-
ment of international databases on birth defects, supported research, and
has educated families and the general public on these disorders.
To meet broad needs for family planning and other reproductive
health measures, child survival, and HIV/AIDS care, five private volun-
tary organizations ADRA (Adventit Development Relief Agency), CARE
(Cooperative for Assistance and Relief Everywhere), PATH (Program for
Appropriate Technology in Health), Plan International, and Save the Chil-
dren have NGO Networks for Health. This consortium aims to improve
health information and services in specific developing countries (Ashman,
20011. The Population and Family Planning Expansion Project, imple-
mented by CARE and funded by the U.S. Agency for International Devel-
opment, supports capacity building for family planning and reproductive
health care. Initial projects combined community-based services with links
to secondary and tertiary facilities to improve access to health care in
difficult-to-reach rural and periurban communities. The project also pro-
vides training for health care workers in contraceptive technology and
counseling skills and for managers in enhancing supervisory, monitoring,
and evaluative skills (Cooperative for Assistance and Relief Everywhere,
1999; Wilcox, 19991.
Launching Public Health Campaigns
An important component of some interventions involves education and
public health messages on such issues as:
· The importance of family planning,
· Prevention of unplanned births for all women and for those over 35
years of age,
unions,
and
· Awareness of the increased risk of birth defects in consanguineous
. . .. . . . .
· Prevention of iodine deficiency,
· The need for folic acid supplementation,
· Limited use or avoidance of alcohol consumption during pregnancy,
· Avoidance of exposure to teratogenic medications and pollutants,
· Control of rubella and other infectious diseases.
Such public health campaigns can employ radio and television mes-
sages and informational pamphlets. Important risks may also be addressed
through plays and films that portray the avoidance of risky behaviors
(Mohammed, 20011.
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INCORPORATING CARE FOR BIRTH DEFECTS
Introducing Genetic Services
129
Once a country has reduced infant mortality rates by incorporating the
most cost-effective interventions into health care programs, there are guide-
lines for evaluating its capacity and readiness to implement a genetic screen-
ing and counseling program (World Health Organization, 2000a). Should
such a program be found appropriate, the next step is to determine the
locally important conditions to be screened and appropriate screening pro-
cedures, so that accurate, reliable, and cost-effective services can be pro-
vided. Genetic screening programs should be developed through a logical,
orderly approach consistent with available resources, staff training and
experience, the capability for diagnostic follow-up of those identified to be
at high risk for a disorder, and the capacity of staff trained for counseling.
Staff in primary care centers can identify patients to be screened or referred.
Secondary and tertiary centers can provide genetic screening and counseling
and, where necessary, follow-up diagnoses and treatment. The number of
centers with the capacity for genetic screening will depend on the balance
between accessibility of services and provision of equitable, cost-effective
services for all segments of a population.
In countries where there is an unusually high occurrence of certain
genetic disorders, public programs can provide preconceptional screening
to identify carriers, prenatal screening to detect fetal disorders, and early
neonatal screening for high-risk pregnancies. Countries that support screen-
ing for specific birth defects include Cuba, Iran, and South Africa. In many
other countries, genetic screening is limited to middle- and high-income
patients with access to private medical practices. Finally, to be successful,
genetic screening programs must be supported and championed by political
and religious leaders and maintained through strong commitment by na-
tional and local health departments.
NATIONAL POLICY AND LEADERSHIP
National public health policy should address preventable risk factors
for birth defects, some of which are more common in developing than in
developed countries (see Chapter 2~. National governments can lead efforts
to identify and strengthen interventions that protect against these disorders.
Strategies for Intervention
When an effective program of primary care is in place, even in resource-
poor countries, it can be expanded successfully to incorporate additional
interventions (including, where appropriate, genetic screening) into basic
reproductive care. Incorporating these interventions will, however, involve
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130
REDUCING THE IMPACT OF BIRTH DEFECTS
governments in decisions concerning budget priorities. Most important to
this process will be having accurate data on the prevalence and disease
burden of specific birth defects and on the cost-effectiveness of interven-
tions that are under way in comparable settings (discussed in detail in
Chapter 31.
The specific interventions recommended in Chapter 3 that deserve uni-
versal implementation include family planning, dietary supplementation
with iodine and folic acid, control of infectious diseases, and avoidance of
teratogens during pregnancy. Information on locally relevant teratogenic
medications to be avoided should be conveyed to primary care providers, as
well as to the general public; governments may also consider limiting access
to teratogenic medications such as thalidomide. Exposure to mercury and
other "erogenic pollutants can be reduced through collaborations between
health departments and other government agencies to develop legislation
on environmental protection and occupational hazards.
Increased availability of genetic screening is likely to raise ethical issues
that require resolution at the national level. The agreement reached on
ethical dilemmas will vary with the social, religious, and legal traditions of
each country and with the capacity of the health care system.
Comprehensive programs that include prevention, treatment, and reha-
bilitation of birth defects can be costly (Waitzman et al., 19941. However,
where political will is strong, as in the example of thalassemia prevention
and treatment in Iran (see Box 3-9), impressive gains can be made in ad-
dressing birth defects with cost-effective interventions. Accurate epidemio-
logical data and parental concern about thalassemia in Iran created a na-
tional awareness of the societal burden caused by the disorder. Policy
makers recognized the need for treatment and introduced it. The high cost
of treatment then led to more affordable genetic screening and prevention
of thalassemia (Angastiniotis et al., 1995; World Health Organization,
2000b).
Public education on the causes, impact, and prevention of birth defects
deserves the support of both government agencies and NGOs and can be
provided through patient and family support groups and school-based initia-
tives. National and international alliances of people with birth defects and
their families provide valuable support and education for their members,
health professionals, and the public (World Health Organization, 19991.
Coordination of Services
A key role for governments is coordinating the care provided by differ-
ent tiers of the health care system. Support and oversight of primary care
must be emphasized, along with connections to secondary and tertiary care
through physicians and specialists at district and national facilities. Policies
OCR for page 131
INCORPORATING CARE FOR BIRTH DEFECTS
13
should be established to guide the progress of patients along established
pathways as they seek genetic screening, surgery, or other advanced care.
Although each community should define its own health care priorities,
national policy can support this process by establishing a national program
of basic reproductive care. Such a program should set uniform standards
for training and performance; collect and interpret surveillance data; and
establish networks of communication among health care providers, re-
searchers, and policy makers.
Priority setting
National and local initiatives should be based on cost-effective inter-
ventions. Since prevention is the most affordable and effective strategy for
addressing birth defects, community health workers should be trained in
the importance of educating young people, and women in particular, on
nutritional, infectious, teratogenic, and genetic risks. Likewise, health care
policies that target common, severe birth defects in a community make the
most efficient use of limited resources.
T· ~
raining
Governments should establish standards for the training of personnel
at all levels of health care to build a strong foundation for the primary care
system. National training policies should also reflect the importance of
continuing professional education for primary caregivers. Although train-
ing may be organized by local health services, it can be encouraged through
national policies that make available such resources as quality instruction,
distance learning, lectures, workshops, and access to journals and the Inter-
net. The need to reduce the impact of birth defects should be addressed in
the training of professionals, including physicians, nurses, and technicians.
Monitoring of health care delivery and outcomes
Surveillance of birth defects and related control programs, including
data collected in primary care settings, provides the evidence base for evalu-
ating the efficacy of current care and practice. National policy should there-
fore support the collection, analysis, and dissemination of information on
health care outcomes (Lorenzo, 19941.
I· ~
nternet communication
As resources can be made available, a central internet site can be estab-
lished to serve as a repository of information on reproductive health, child
OCR for page 132
32
REDUCING THE IMPACT OF BIRTH DEFECTS
health, and birth defects. This gateway site can enlist the participation of
professionals, public health organizations, and advocates worldwide. It can
include recent findings from surveillance and operational research; stan-
dardized versions of basic reproductive care, genetic screening and diagno-
sis, and therapeutic services for common birth defects in different settings;
evaluation of interventions for cost-effectiveness; and access to training
packages for distance learning. The site can also facilitate communication
among health care providers, researchers, and policy makers at national
centers and in the communities they serve.
Research
A robust agenda of epidemiological and operational research is needed
to inform and support primary care interventions aimed at reducing neona-
tal mortality and morbidity due to birth defects (see Chapter 31. Research in
the following areas should be given high priority:
· Epidemiological studies to measure the prevalence and burden of
disease caused by common and severe birth defects in national and local
settings. Even where financial resources are limited, this basic information
provides the evidence base for decisions involving the potential impact and
, ... . .
cost ot specific interventions.
· Development of affordable surveillance and information systems for
birth defects and evaluation of their reliability, validity, and feasibility.
· Rigorous evaluation of the effectiveness in local settings of interven-
tions proven clinically- and cost-effective in similar settings in the preven-
tion and treatment of birth defects. Preconceptional, prenatal, and neonatal
screening might also be evaluated in programs that target specific prevalent,
severe, and treatable birth defects. In addition, operational research should
evaluate affordable, effective strategies for rehabilitation of children with
birth defects in low-resource settings.
· Studies of the impact of health education programs for teenagers and
young adults in terms of their awareness of the risk factors for birth defects,
and on their behavior changes for a health pregnancy.
· Studies of the long-term health and psychosocial impact of birth
defects.
Establishment of an operational research capacity can strongly support
the planning and management of health care including reproductive health
and reduction of the impact of birth defects. This is accomplished by pro-
viding the data needed for setting priorities among health problems, for
OCR for page 133
INCORPORATING CARE FOR BIRTH DEFECTS
133
justifying a focus on health care, and for evaluating interventions for their
effectiveness (Morrow and Lansang, 19911. Research programs could also
promote the development of an international cadre of professionals focused
on these issues in developing countries. Successful models for such a re-
search program are the Fogarty International Center Training and Research
Programs at the U.S. National Institutes of Health, the WHO Special
Programme for Research and Training in Tropical Diseases, and the pro-
gram on reproductive health initiated recently at Save the Children. Col-
laboration on research associated with birth defects can be undertaken with
a number of organizations in developed countries. National and local pro-
grams focused on reproductive health care and specific birth defects can
increase the capacity for health research.
Two principal means of collecting epidemiological data for health care
planning purposes are surveys and record keeping at the primary care level.
In addition to surveys of the prevalence of specific birth defects among the
general population, studies that attempt to describe how people seek family
planning assistance or how patients with birth defects make use of different
kinds of health care providers could be useful. Research on pathways to
health care can identify areas for improvement in the efficiency of treatment
and referral in health care systems. Programs such as the International
Clinical Epidemiology Network strengthen epidemiological research skills.
CONCLUSION
Birth defects are an important and as yet poorly measured burden of
disease in developing countries, but their burden on individuals is clear: the
impact of birth defects is often severe, lifelong, demanding of a high level of
care, and responsible for a substantial loss in quality of life for the patient
and frequently the family as well. Epidemiological studies have provided
some basic knowledge about birth defects in developing countries, includ-
ing evidence of relatively high population prevalences, the contribution of
various causes, and prospects for prevention. While the data are, on the
whole, extremely limited, a variety of genetic, nutritional, infectious, and
teratogenic causes are known. Many of these causes are preventable, and
treatments can correct or reduce the impact of some birth defects, as can a
variety of interventions involving education and rehabilitation. Nonethe-
less, few resources are devoted to programs to prevent birth defects or treat
children with birth defects in low-income countries. The need to reduce
birth defects in the developing world calls for innovative and sustained
public health efforts and financial commitments.
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34
REDUCING THE IMPACT OF BIRTH DEFECTS
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Representative terms from entire chapter:
reproductive health