Nearly 8 million children each year are born with birth defects that are genetic in origin, and 70 percent of those defects could be prevented or mitigated, according to the first worldwide study commissioned by the March of Dimes.
In the absence of treatment, at least 3.3 million of the children die before age 5, while 3.2 million are disabled for life, according to the study released Monday.
"Our report identifies for the first time the severe and previously hidden global toll of birth defects," said Dr. Jennifer Howse, March of Dimes president. "This is a serious, vastly unappreciated and under-funded public-health problem."
The rate ranges from a high of 82 birth defects per 1,000 live births in Sudan to a low of 39.7 per 1,000 in France. In the United States, the rate is 47.8 per 1,000 births.
More than 94 percent of birth defects and deaths occur in middle- and low-income countries, according to Dr. Christopher Howson of the March of Dimes, a co-author of the report.
The authors estimate that hundreds of thousands of other birth defects occur because of environmental factors, such as congenital rubella, congenital syphilis, iodine deficiency and fetal alcohol syndrome. But Howson said there was little data available to document the incidence of those problems.
Five common birth defects accounted for about 26 percent of the total in 2001, the most recent year for which data were available. They included: congenital heart defects (1 million cases); neural tube defects, such as spina bifida (324,000 cases); the hemoglobin disorders thalassemia and sickle cell disease (308,000 cases); Down syndrome (217,000 cases); and glucose-6-phosphate dehydrogenase deficiency (177,000 cases), an enzyme disorder.
"This is an extraordinary toll," Howson said. "People are going to ask, 'Why isn't more being done to address this problem?' "
Among the reasons for the high incidence of birth defects in developing countries, the report concluded, are increasing numbers of older women having babies, marriages between blood relatives and poor nutrition among pregnant women.
A large fraction of the population at risk lives in the so-called "malaria belt," where that disease is endemic. Many people there carry a copy of a gene for an inherited disease, such as sickle cell, thalassemia, or G6PD deficiency, that provides protection against malaria but produces birth defects when carriers have children together.
The incidence of birth defects and disability can be sharply reduced in developing countries, the report concluded.
"Experience from high-income countries shows that overall mortality and disability from birth defects can be reduced by up to 70 percent if the recommendations in this report were broadly implemented," said Dr. Arnold Christianson of the University of the Witwatersrand in Johannesburg, South Africa, another co-author.
Some solutions are relatively simple, such as adding folic acid and iodine to the food supply and including a rubella shot in the vaccination program.
Folic acid supplementation in enriched flour, for example, costs about a penny per person per year. In 2000, Chile began adding folic acid to flour and saw a 40 percent drop in neural tube defects.
Genetic testing for defects such as phenylketonuria (a digestive disorder) and thalassemia can be relatively cheap, as little as $5 per test.
The report noted the case of Iran, which began testing engaged couples for the thalassemia gene in 1997 because of the growing cost of care for those with the disease. By 2001, 10,298 at-risk couples had been identified and counseled, and thalassemia births had dropped by 70 percent.
Many birth defects, such as heart defects, clubfoot and cleft lip and palate, can be corrected by surgery. Too often, however, newborns are discharged from the hospital or birthing center without anyone being aware of their problems.
"No child should leave a hospital or clinic who has not been examined by a provider who has been trained to recognize and diagnose birth defects," Howson said. "There are effective ways to care for a lot of these birth defects and save [children] from unnecessary death and disability."
The Associated Press contributed to this report.
source: http://seattletimes.nwsource.com/cgi-bin/PrintStory.pl?document_id=2002772932&zsection_id=2002107549&slug=babies31&date=20060131 16feb2006
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