Improving Birth Outcomes Meeting the Challenge in the Developing World (2003) / Chapter Skim
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7. Reducing Mortality and Morbidity from Birth Defects
7. Reducing Mortality and Morbidity from Birth Defects
Pages 236-261
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From page 237... ...
Birth defects may be apparent immediately after birth or may manifest themselves later in life. As infant mortality and morbidity due to infectious diseases, birth asphyxia, and other causes are controlled, the burden of disease associated with birth defects becomes more important.
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From page 238... ...
The birth prevalence of individual conditions varies widely in different populations. In low-income countries, birth defects that cause early death or chronic lifelong disability may have a birth prevalence as high as 45 per 1,000 live births triple that in wealthy countries (WorId Health Organization, 1985~.
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From page 239... ...
. Ionlzlng raulatlon Congenital malformations involving single organ systems Down syndrome oc-and p-Thalassemias Sickle cell disorder G6PDb deficiency Congenital rubella syndrome Cardiovascular and nervous system damage Neural tube defects Neural tube defects Iodine deficiency disorders Limb reduction deformities Several Several Neurologic damage Fetal alcohol syndrome Neurological damage Neurological damage Congenital heart disease Neural tube defects Cleft lip and/or cleft palate Talipes or clubfoot Developmental dysplasia of the hip aThe birth defects included in this report were selected for their severity, prevalence in developing countries, and having effective, affordable interventions to reduce their impact.
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Even with the best care, including antibiotics and corrective heart surgery, many die in early infancy or childhood and very few survive middle age. Congenital heart disease associated with Down syndrome is the major cause of death.
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From page 241... ...
Carriers of the more severe form of p-thalassemia occur at high frequencies but in a more limited area, which includes parts of Southeast Asia and the Mediterranean (Weatherall and Clegg, 2001~. Sickle cell disease, an autosomal recessive structural hemoglobin ab
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From page 242... ...
Epidemiological studies of sickle cell disease suggest a range in the birth prevalence among and within developing countries. The combined carrier rates for sickle cell disease and hemoglobin C disease would be expected to result in about 90,000 affected births per year in Nigeria alone, but the prevalence of the disorder in the general population is low because a large majority of patients with sickle cell anemia (HbSS)
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From page 243... ...
Iodine deficiency disorders (IDD) include mental retardations, hypothyroidism, goiter, cretinism, and varying degrees of other growth and developmental abnormalities, which result from inadequate thyroid hormone production as a result of an insufficient iodine intake.
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Phenobarbital, phenytoin, and primidone have each been associated with congenital heart defects or facial clefts, and carbamazepine and valproate with neural tube and other birth defects (Samren et al., 1999~. These birth defects do not appear to be associated with maternal epilepsy itself (Holmes et al., 2001~.
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From page 245... ...
factors. These conditions are usually limited to a single organ system and include the following examples: NTDs, congenital heart disease, cleft lip and/or cleft palate, talipes, and developmental dysplasia of the hip.
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From page 246... ...
The birth prevalence of NTDs varies widely among countries, due in part to genetic and environmental factors and to differences in the availability of antenatal screening and termination of severely affected pregnancies (Shibuya and Murray, 1998~. Epidemiological studies show a strong association between NTDs and inadequate maternal consumption of folic acid during the preconceptional and periconceptional periods.
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From page 247... ...
If cleft lip or palate are left untreated, resulting malnutrition and infection can be fatal (Shibuya and Murray, 1998~. Cleft lip and/or cleft palate are often associated with additional birth defects that co-occur with a genetic syndrome (Shibuya and Murray, 1998~.
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From page 248... ...
Stage One: Low-Cost Preventive Strategies Basic reproductive care provides the foundation for improving neonatal and infant mortality and reducing birth defects. It includes: · Family planning to educate young adults regarding pregnancy timing, spacing, and contraceptive methods so that they can make informed choices on childbearing.
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This strategy requires that family planning is widely available, along with appropriate information about Down syndrome and risk factors. Limiting alcohol consumption A safe level of maternal alcohol use has not been established.
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Where resources permit, testing for rubella antibodies before conception allows those who test negative to be immunized provided they can prevent pregnancy during the immunization process. Avoiding teratogenic medications during pregnancy Avoidance of birth defects due to teratogenic medications such as thalidomide, misoprostol, anticonvuisants, and anticoagulants requires awareness on the part of medical workers and women of childbearing age.
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. These programs require more resources and more highly trained staff than programs for basic reproductive health care, but they too can be cost-effective.2 2See the companion report, Reducing the Impact of Birth Defects: Meeting the Challenge in the Developing World (IOM, 2003)
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, screening programs have significantly reduced the birth prevalence of p-thalassemia. Sickle cell disease (SCD)
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Neonatal screening and diagnosis Early diagnosis and prompt, appropriate treatment of some birth defects can reduce some life-threatening or disabling sequelae. Even when little can be done to assist the infant, accurate diagnosis of birth defects alerts parents to their risk in future pregnancies.
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Basic reproductive health care, an essential component of primary health care, can prevent or reduce the impact ot birth detects by providing education for parents regarding avoidable risks for birth defects, effective family planning, effective preconceptional and antenatal care and , .
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· Surveillance to provide basic planning information on maternal, neonatal, and fetal mortality and on infants born with birth defects · Effective strategies for changing maternal behaviors to minimize the risks for birth defects, including childbearing before age 35 and limiting alcohol consumption during pregnancy. CONCLUSION Birth defects have enormous personal and societal consequences in developing countries.
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From page 256... ...
allele and sickle cell disease: a HuGE review. American Journal of Epidemiology 151(9)
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1999. The prevalence of sickle cell syndrome in south of Iran.
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2002. Neonatal screening for sickle cell disease.
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1996. Health Dimensions of Sex and Reproduction: The Global Burden of Disease: A Comprehensive Assessment of Mortality and Disability From Diseases, Injuries, and Risk Factors in 1990 and Projected to 2020.
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2000. Folic Acid and tI7e Prevention of Disease: Report of tI7e Committee on Medical Aspects of Food and Nutrition Policy.
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From page 261... ...
1996. Iodine deficiency disorders in Bangladesh.
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