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Interventions to Reduce the
Impact of Birth Defects
Impact of birth defects in developing countries can be reduced
through a series of interventions and eventually a comprehensive pro-
gram that encompasses prevention, education about reproductive
health, diagnosis, treatment, and rehabilitation. Several interventions pre-
sented in this chapter involve prevention of common birth defects and have
been found to be affordable in even the poorest settings. These high priority
interventions can be expanded as other health problems are resolved, as
birth defects become a public health priority, and as additional resources
become available. The health care provided to children and adults with
birth defects should always be equitable with the care provided for other
health conditions. 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 rehabilita-
tion programs can be improved. Once health care has reduced infant mor-
tality due to other causes, screening for genetic defects becomes cost-effec-
tive and can further reduce the impact of birth defects. Although the number
and severity of birth defects pose a challenge to countries with limited
health resources, the process of reducing the impact of birth defects can be
undertaken in three stages:
1. Introduction of low-cost preventive interventions.
2. Provision of improved treatment for children and adults with birth
defects.
3. Introduction of screening to identify genetic birth defects that can
be prevented or treated.
68
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INTERVENTIONS TO REDUCE THE IMPACT OF BIRTH DEFECTS 69
Developing countries have a wide range of priorities, capacities, and
resources for health care services. Successful implementation of each inter-
vention requires that it be matched to the local setting. At each stage of
development, health care services also need national leadership and coordi-
nation, surveillance to provide a sound evidence base for setting public
health priorities, and monitoring of interventions to ensure their clinical-
and cost-effectiveness.
BASIC REPRODUCTIVE CARE
Basic reproductive care, which includes family planning, and precon-
ceptional, prenatal, and neonatal care, is the foundation for improving
neonatal and infant mortality and reducing birth defects. As infant mortal-
ity rates fall, birth rates tend to decline because parents become increasingly
confident that the children they conceive will survive childhood. This trend
is strongest where family planning is accessible and effective.
Family Planning
The primary goal of family planning is to provide couples with the
knowledge they need to make well-informed decisions concerning whether,
when, and under what circumstances to have children. Accomplishing this
goal involves education and assistance in preventing unintended pregnan-
cies. Planning for a family of the desired size and preventing additional
births can substantially reduce the number of children born with birth
defects simply by reducing the total number of births. In addition, couples
who have an established genetic risk of producing children with birth de-
fects can choose whether to have any (or more) children (WorId Health
Organization, 19971.
Preconceptional Care
Maternal education, literacy, and overall socioeconomic status are pow-
erful influences on the health of both mother and neonate (Bicego and
Boerma, 1993; World Bank, 1993; Rao et al., 1996; van Ginneken et al.,
19961. Where both the formal education and the health education of girls
are limited, there is an especially acute need for preconceptional health
care, which aims to ensure that women and their partners achieve an "op-
timal state of physical and emotional health at the onset of pregnancy"
(Wallace and Hurwitz, 19981.
Preconceptional care identifies risk factors for adverse birth outcomes,
including birth defects, and provides the means to minimize those risks.
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70
REDUCING THE IMPACT OF BIRTH DEFECTS
Identification of risk factors involves the following assessments (Moos,
19941:
· Medical
.
history to identify preexisting medical conditions, such as
1nsulin-dependent diabetes mellitus, epilepsy, and heart disease, that may
pose a threat to the mother and the developing fetus; medications used by
the mother; and exposure to rubella and other infectious diseases.
· Family history to identify birth defects in close family members.
· Reproductive history to identify risk factors that have contributed
to previous poor pregnancy outcomes, some of which can be addressed
through preconceptional and prenatal care.
_ T . · . · 1 /~-1 . 1 . · . 1
· l~utrltlonal profile to Determine the overall nutritional status anu
intake of micronutrients, such as iodine and folic acid.
· Life-style profile to determine the potential for maternal exposure to
infectious agents or recreational drugs such as alcohol.
· Maternal occupation should be evaluated for potential teratogenic
exposures.
Preconceptional care advises on how to prevent certain birth defects
that originate during the first weeks of pregnancy often before a mother
realizes she is pregnant. At 2 to 8 weeks' gestation, when embryonic cells
are dividing rapidly and organ systems and body parts are beginning to
differentiate, the embryo is particularly vulnerable to teratogens (Moos,
19941. For example, folic acid supplementation (discussed later in the chap-
ter) is only effective in preventing neural tube defects (NTDs) when con-
sumed 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. As noted above, this is too late for certain preventive
measures such as increasing dietary consumption of folic acid to avoid
NTDs.
Neonatal Care
Where possible, neonatal care should include a complete physical ex-
amination at birth (or prior to discharge for those born in a clinic or
hospital) to diagnose detectable conditions. Early diagnosis followed by
timely treatment can minimize some conditions and reduce disability. In-
fants with birth defects should receive the best care locally available. This
will vary with local resources, the prevalence of specific birth defects, and
the cost and effectiveness of potential interventions (Christianson et al.,
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INTERVENTIONS TO REDUCE THE IMPACT OF BIRTH DEFECTS 71
2000; World Health Organization, 1985, l999b; Alwan and Modell, 19971.
Low-cost rehabilitation may be less effective than prevention of birth de-
fects, but it can reduce dependence and provide a better quality of life for
affected individuals and their families.
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.
LOW-COST PREVENTIVE STRATEGIES
These low-cost interventions to prevent birth defects have been found to
be affordable in even the poorest settings. They address some important risk
factors and involve family planning, public health campaigns, fortification of
staple foods, maternal and child health, and infectious disease control.
Discouraging Pregnancy in Women Over 35
The simplest means of preventing Down syndrome and other chromo-
somal disorders such as trisomies 13 and 18 is to decrease the number of
pregnancies among women older than 35 years. This is accomplished by
making family planning widely available and providing information about
what Down syndrome is and how it is caused (WorId Health Organization,
1997, 2000a). This strategy was shown to be effective in Europe between
1950 and 1975 when family planning programs were expanded and the
birth prevalence of Down syndrome decreased from 2.5 to 1.0 per 1,000
live births (Modell and Kuliev, 19901.
Recommendation 2. Women should be discouraged from reproducing
after age 35 to minimize the risk of chromosomal birth defects such as
Down syndrome.
Folic Acid Fortification
The predominant cause of NTDs is folate deficiency in the early weeks
of pregnancy (Oakley, 1993~. Randomized controlled trials in Europe
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72
REDUCING THE IMPACT OF BIRTH DEFECTS
showed that folic acid supplementation in early pregnancy reduced NTDs
by 70 percent (MRC Vitamin Study Research Group, 1991) and 100 per-
cent (Czeize! and Dudas, 19921. A randomized controlled trial from India
was halted because of the ethical need to provide folic acid to all partici-
pants once its effectiveness had been established. The findings of that study
supported the conclusion that folic acid deficiency is the predominant cause
of NTDs (Indian Council of Medical Research, 20001. In a large, non-
randomized community intervention study in a high-prevalence area (4 to 5
NTDs per 1,000 births) of China, pregnant women received daily supple-
ments 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) (see Box 3-11.
Although folic acid is present in leafy vegetables, legumes, and citrus
fruits, it is unlikely that dietary advice alone can adequately increase con-
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INTERVENTIONS TO REDUCE THE IMPACT OF BIRTH DEFECTS 73
gumption of these foods by those at risk. The above studies led the United
States to fortify cereal grains with synthetic folic acid to increase consump-
tion of the nutrient by an average of 100 micrograms a day (Food and Drug
Administration, 19961. Although this amount represents just one-quarter
of the daily consumption recommended, it raised blood folate to levels that
decreased NTDs by about 20 percent (Green, 2002; Oakley 2002a). The
United Kingdom and Chile fortify at about twice the U.S. level. Since Chil-
eans consume twice as much wheat as each of the other populations, the
average woman in Chile is estimated to receive the recommended level of
400 micrograms of synthetic folic acid daily (Oakley, 2002a). Folic acid
fortification is being introduced in several South and Central American
countries, many of which already fortify wheat flour with other B vitamins.
Folic acid is so inexpensive that the cost of the vitamin premixture hardly
changes with its addition. In countries where folic acid fortification is not
already under way, its cost is estimated at 0.1 percent of the total cost of
flour.
Fortification overcomes the logistical problems of supplementation in
early pregnancy as well as taking a complete regimen. However, almost
universal coverage for women of reproductive age is relatively inexpensive.
Fortification is recommended at a level of 240 micrograms per 100 grams
of a widely consumed staple food (Oakley, 2002b). Supplementation is
useful where fortification is not possible or is below the recommended level
(Committee on Medical Aspects of Food and Nutrition Policy, 20001.
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.
Universal Salt Iodization
The primary cause of iodine deficiency disorders (IDDs) is insufficient
iodine in the diet. The adult requirement for iodine can be met with 100 to
150 micrograms daily, and an additional 50 micrograms daily during preg-
nancy (Stanbury, 1998; World Health Organization, 20011. Correction of
maternal iodine deficiency before conception is necessary to avoid adverse
effects on the fetus. Measurement of urinary iodine is a convenient and
reliable method for assessing iodine nutritional status in a community. This
method is more accepted and considerably less expensive than the use of
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74
REDUCING THE IMPACT OF BIRTH DEFECTS
thyroid-stimulating hormone or other thyroid hormone measurements
(Dunn et al., 1994; World Health Organization, 20011.
Iodine deficiency may be exacerbated by goitrogens, which interfere
with the incorporation of iodine into thyroxine (Geelhoed, 19991. The
effects of goitrogens can be mitigated by ensuring a more-than-adequate
intake of iodine; avoiding consumption of thiocyanate-containing vegetable
products such as cassava; and cooking potentially goitrogenic foods to
reduce the goitrogen content (Bourdoux et al., 19821. Soaking foods is also
effective in reducing the goitrogen level, but vitamin A and other nutrients
are also lost in this process. Vitamin A deficiency can be addressed with
dietary supplements (Vanderpas et al., 1993).
Iodine, a volatile trace element, is more abundant in the sea than on
land. Except in certain geological regions (Li et al., 1989), iodine has been
largely depleted from world soils (McClendon, 19391. Plants do not require
iodine for healthy growth, and the amount of iodine in plants and animals
generally reflects the low levels in soil. Thus to prevent iodine deficiency,
most populations need supplementation (Hetze! and Maberly, 19861.
The accepted strategy for eliminating iodine deficiency is universal salt
iodization (Stanbury, 1998), 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.
The customary level of fortification is 25-50 milligrams of iodine per kilo-
gram of salt (WorId Health Organization, 1996b). The fortified salt prod-
uct costs only slightly more ($0.02-$0.06 per person annually) than the
unfortified product.
In populations with endemic cretinism and IDDs, iodized oil has been
administered to entire populations as an emergency prophylactic and thera-
peutic (Delange, 1996; Geelhoed, 19991. In a Central African population in
remote Congo, for example, an intramuscular injection of iodized oil was
found to control goiter and cretinism and protect iodine stores for a period
of 1 to 5 years, which reduces concerns about compliance (Geelhoed, 19991.
Iodization of drinking water and bread has also been shown to provide a
safe and cost-effective alternative in some settings (EInager et al., 19971.
National leaders at the 1990 World Summit for Children set the
goal of virtually eliminating this deficiency by the year 2000. In 1990,
less than 20 percent of household salt was iodized, and more than one-
third of the worId's population was recognized as having inadequate
dietary iodine. By 2002, more than 70 percent of household salt worId-
wide was iodized. Annually, this supplementation protects about
85 million infants, but another 35 million infants remain unprotected
(Ramalingaswami, 20001. Figure 3-1 shows the percentage of house-
OCR for page 75
75
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OCR for page 76
76
REDUCING THE IMPACT OF BIRTH DEFECTS
holds worldwide that use iodized salt, and efforts are under way to
reach those households by 2005.
The rapid progress of the last decade has demonstrated the effective-
ness of national "ownership" of the challenge (Ramalingaswami, 2000)
and close collaboration among public, private, civic, and scientific groups
to support the production of good-quality iodized salt, the delivery of only
iodized salt, persistent market outreach to all parts of the country, periodic
advocacy to sustain political commitment, and continued education to sus-
tain public demand.
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.
Immunization Against Rubella
Rubella infections are common worldwide and are strongly teratoge-
nic. Vaccination programs in several, mostly developed, countries prevent
virtually all cases of congenital rubella. Some countries have immunized all
young children, some have immunized prepubescent females, and some
have used a combined approach with measles-mumps-rubella (MMR)
vaccine (Immunization Working Group, 2000; Massad et al., 19951. By
1996, 78 countries worldwide reported national rubella vaccination pro-
grams. Included among these were 43 percent of Latin American, 12 per-
cent of Eastern Mediterranean, 5 percent of South East Asian, and 11
percent of the Western Pacific populations. Notably absent were African
countries (Robertson et al., 19971.
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). In countries
where more than 80 percent of the population is immunized for other
childhood diseases, rubella should be included in the immunization pro-
gram. In countries where immunization coverage is lower than 80 percent,
overall coverage should be increased before introducing rubella immuniza-
tion because vaccination can interrupt natural transmission during child-
hood and actually increase the number of women who are not immune
(Banatvala, 19981. A vaccination strategy developed and implemented in
Brazil was able to eliminate CRS in 2 years (see Box 3-21.
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INTERVENTIONS TO REDUCE THE IMPACT OF BIRTH DEFECTS 77
The most rapid reduction in CRS has been achieved with mass cam-
paigns for all women of childbearing age. Checking for rubella antibodies
before conception allows those who test negative to be immunized and
those who test positive to be reassured. The benefits are considerable, while
the main risk is the inappropriate reassurance of women who have false-
positive tests (Tookey et al., 19911. All evidence indicates that rubella virus
vaccine does not pose a risk to the fetus, so prior screening for pregnancy is
unnecessary (Tosefson, 2001; World Health Organization, 2000b). Vacci-
nation 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) and a benefit-to-cost ratio of more than 1 in several developing-
country studies (Hinman et al., 20021.
Eradication of rubella is feasible because it infects only humans and the
vaccine is highly immunogenic, highly protective, affordable in all but the
poorest countries, and can be administered in conjunction with measles and
rubella vaccines and as part of a standard immunization schedule at 9
months of age (Plotkin et al., 19991. Eradicating rubella has not, however,
been recognized as a priority in low-income countries (Banatvala, 19981.
Combining rubella and measles vaccines can significantly reduce the cost of
rubella immunization (Cutts and Vynnycky, 19991. In Latin America and
the Caribbean, for example, 20,000 or more infants are born with CRS
each year, yet a one-time mass immunization of all females aged 5 to 39
years could control both rubella and CRS (Hinman et al., 19981.
Surveillance of rubella and CRS following an eradication campaigns
can be a challenge as rubella is often unreported and sometimes asymptom-
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78
REDUCING THE IMPACT OF BIRTH DEFECTS
atic. Rubella epidemics are monitored using immunoglobulin M (IgM) test-
ing in serum and saliva samples (Perry et al., 19931. Simple hearing tests for
infants would improve case ascertainment (Plotkin et al, 1999), while test-
ing all infants with microcephaly, developmental delay, hearing loss, mi-
crophthalmia, congenital cataracts, and congenital heart disease would cap-
ture a more complete estimate of CRS incidence.
Recommendation 5. 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.
Herpes simplex virus (HSV)
Where possible and safe, pregnant women with active genital herpes
lesions at the time of delivery should deliver by cesarean section to decrease
the risk of neonatal HSV. The risk is decreased to less than 10 percent if
performed prior to the rupture of membranes (Nahmias and Schwahn,
19851.
Toxoplasmosis
Pregnant women can avoid exposure to Toxoplasma gondii by washing
their hands after handling raw meat, cooking meat until well done, and
avoiding contact with cat feces and soil, insects, or other material contami-
nated with cat feces (Essawy et al., 19901.
Limiting Alcohol Consumption
Alcohol consumption during pregnancy causes fetal alcohol syndrome,
which is the most common preventable cause of mental retardation (Vi~joen,
19991. A safe level of maternal alcohol use has not been established. The
teratogenic risk of maternal binge drinking during pregnancy is uncertain,
but studies suggest that a single heavy binge at a critical period of embry-
onic development can damage the fetus (Gladstone et al., 19961. Since the
earliest weeks of pregnancy are critical for central nervous system develop-
ment, all women should be strongly advised to avoid (Institute of Medicine,
1996) or minimize alcohol consumption before conception as well as dur-
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INTER VENTIONS TO RED UCE THE IMPA CT OF BIR TH DEFE CTS 1 1 1
· 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.
Many organizations and parts of government can contribute to the
strengthening of health care in developing countries. National leadership
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2
REDUCING THE IMPACT OF BIRTH DEFECTS
and coordination of these organizations and capabilities can vastly improve
the quality and equity of health care, including reproductive health care and
care of birth defects.
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 in-
terpret surveillance data, set uniform standards for the training and perfor-
mance 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
Despite the existence of low-cost interventions for preventing and treat-
ing a number of birth defects, the human, economic, and social burdens
associated with these conditions remain high. Obstacles to improving care
for birth defects include financial constraints; lack of knowledge on the part
of health care workers; poor access to medical facilities; and issues sur-
rounding ethnicity, language, religion, and culture. Governments must be
educated on the cost-effectiveness of reducing the impact of birth defects
through proven methods of prevention and care, which can be adapted to
local resources and needs. Providing the best possible care for patients with
birth defects begins with the recognition that such care may require signifi-
cant 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. Reducing the impact of birth defects in developing countries
can be approached through a three-stage process. The first stage of the
process involves low-cost interventions to prevent specific birth defects.
The second stage addresses improved treatment and rehabilitation for those
with birth defects. Although generally more costly than the first stage pre-
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INTER VENTIONS TO RED UCE THE IMPA CT OF BIR TH DEFE CTS 1 1 3
ventive interventions, reducing the disease burden for those with birth de-
fects, is key to providing equitable health care as these individuals can
suffer from both the burden of disease and an associated burden of lost
social and economic opportunity. The third stage is important for countries
with comprehensive systems of basic reproductive health care and lower
IMRs. 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 en-
abling individuals to make free and informed health care decisions, is an
essential part of screening and diagnostic programs.
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Representative terms from entire chapter:
folic acid