March of Dimes birth defects report
Summary report about the global situation of the main groups of congenital anomalies investigated and provided by the March of Dimes:
Every year an estimated 7.9 million children—6 percent of total births worldwide—are born with a serious birth defect of genetic or partially genetic origin. Additional hundreds of thousands more are born with serious birth defects of post-conception origin, including maternal exposure to environmental agents (teratogens) such as alcohol, rubella, syphilis, and iodine deficiency that can harm a developing fetus.
Serious birth defects can be lethal. For those who survive, these disorders can cause lifelong mental, physical, auditory or visual disabilities. Data presented in this report show that at least 3.3 million children under five years of age die from birth defects each year and an estimated 3.2 million of those who survive may be disabled for life.
Birth defects are a global problem, but their impact is particularly severe in middle- and low-income countries where more than 94 percent of the births with serious birth defects and 95 percent of the deaths of these children occur. The proportion of births with birth defects as well as the absolute number of births are much higher in middle and low-income countries than in high-income countries because of sharp differences in maternal health and other significant risk factors, including poverty, a high percentage of older mothers, a greater frequency of consanguineous marriages and the survival advantage against malaria for carriers of sickle cell, thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency genes.
According to the data in this report, five common serious birth defects of genetic or partially genetic origin in 2001 were: (1) congenital heart defects; (2) neural tube defects; (3) the hemoglobin disorders, thalassemia, and sickle cell disease; (4) Down syndrome (trisomy 21); and (5) glucose-6-phosphate dehydrogenase (G6PD) deficiency. Combined, these five conditions account for about 25 percent of all of birth defects of genetic or partially genetic origin. To date, more than 7,000 different birth defects of genetic or partially genetic origin have been identified.
Comparable data could not be derived for birth defects due to post-conception damage caused by maternal exposure to teratogens, such as alcohol, drugs, some infections, and a number of toxic environmental agents. What limited data do exist suggest the highest toll results from the following four postconception birth defects: fetal alcohol spectrum disorder, iodine deficiency disorder, congenital rubella syndrome and congenital syphilis. Together, these disorders account for hundreds of thousands of affected births. As with birth defects of genetic or partially genetic origin, post-conception birth defects are more common in low- and middle-income countries, where the potential for exposure to teratogenic agents is greater and fewer preventive measures are in place than in high-income regions.
Experience from high-income countries shows that up to 70 percent of birth defects can either be prevented, or that affected children can be offered care that could be life saving or would reduce the severity of disability. These interventions include appropriate treatment, particularly surgery, and prevention, especially before conception or in very early pregnancy. For example, the United States reported a remarkable 46 percent decline in infant mortality rates from birth defects over the period 1980 to 2001, and much of this reduction can be attributed to improvements in diagnosis, care and prevention. Other high-income countries have reported similar declines.
On the other hand, limited data from low- and middle-income countries suggest that there has been little to no improvement in infant mortality rates from birth defects over the same general time period. Most middle- and low-income countries currently lack the comprehensive health services needed to reduce their toll of birth defects.
Strategies for improving the health of women, mothers, newborns and children are essential for effective prevention and care of those with birth defects. Investing in the care and prevention of birth defects reduces child mortality and disability and, therefore, should be an integral component of any comprehensive women’s maternal, newborn and child health program. This includes development of basic medical genetic services for both the prevention of birth defects and the care of affected children in middle- and low-income countries. This investment will ensure that all countries benefit from current knowledge and technology in medical genetics and genomics and that they also will benefit from future advances as they become available.
Several misperceptions identified in the report help to explain why care and prevention of birth defects have received little attention from international donors and health agencies. These misperceptions have been impediments to the development of appropriate programs, and need to be corrected.
The first is that health policy makers have not been aware of the immense global toll of birth defects, including the true extent of death and disabilities, a deficiency that should be corrected by the data presented in this report. In a few documented instances, where the burden of disease has been quantified, funding and corrective measures have usually followed. The implementation of rubella immunization in South America and the Caribbean following publication of the data on the high toll of congenital rubella syndrome in that region provides one such example.
A second misunderstanding is the belief that effective care and prevention of birth defects require costly high-technology interventions that are beyond the health budgets of low- and middle-income countries. In fact, most such efforts should be carried out in primary and secondary care settings. Effective interventions—including family planning, optimizing women’s diets, managing maternal health problems and avoiding maternal infections—are both feasible and affordable, even for financially constrained health systems, and have proven cost effective where implemented.
A third misperception is the belief that attention to birth defects will draw funding away from other high-priority maternal and child health efforts. Again, the reverse is true. Many risk factors for birth defects—including advanced maternal age, maternal medical complications, infection, poor nutrition, smoking, alcohol and drug use—are common to other maternal and child health problems. In fact, increasing efforts to reduce birth defects will also contribute to the overall health of women, mothers, newborns and children.
For the full report, please click here
