Hawaii expandsParents may not know what they are because the names are so technical -- argininosuccinyl-CoA lyase deficiency, for instance -- but they can lead to severe dysfunction or death without early detection and treatment in newborns.
testing of metabolism
A new pilot study with CaliforniaIsles top in tracking birth defects
may help identify and mitigate
By Helen Altonn
They are inherited disorders that affect the body's ability to produce or break down compounds such as fats, proteins or carbohydrates into substances needed for energy, growth and repair.
Hawaii mandates newborn screening for seven such disorders and next month will begin a pilot study with California of 30 more "errors of metabolism."
Expanded screening will be offered to parents having babies during the next 10 months at Kapiolani Medical Center for Women & Children.
California received a $3.9 million federal grant for three years to conduct the research with new technology called tandem mass spectrometry.
Hawaii was invited to participate partially because of its multiethnic population, state health officials said.
"It's pretty amazing," said Sylvia Au, genetics coordinator in the state Health Department's Children with Special Health Needs Branch and principal investigator for the pilot project here. "With all this automation, they can get the result back in minutes and look at whether a child might be at risk for 30-plus disorders."
Au also heads a separate three-year project under a $300,000-a-year grant to look at ethical, legal and social issues associated with the new screening technology. Oregon, Idaho, Alaska and Washington will be included in that project.
Co-investigators for the screening study are Christine Matsumoto, coordinator of Hawaii's Newborn Metabolic Screening Program; Patricia Heu, chief of the Children with Special Health Needs Branch, and Kapiolani Drs. Venkataraman Balaraman and Sorrell Waxman.
Matsumoto said the pilot project is a great opportunity "to do supplemental testing at no extra cost to families and see what this kind of screening can do and build the program accordingly."
A piece of filter paper with four spots of blood from a baby's heel is sent to the Oregon State Public Health Laboratory for analysis for the present screening. It will send the sample on to California for expanded tests if parents consent.
Metabolic disorders can cause a variety of medical problems affecting a child's growth and development. However, treatment often provides "good outcomes" with early detection, Balaraman said.
Matsumoto said the newborn screening program "is one of our real success stories," with disorders identified even before symptoms develop.
"With tandem mass spectrometry and the same amount of blood," she said, "how many more infants could we possibly make a difference for, saving their lives and preventing morbidity?"
Data will be analyzed to see whether mass screening would be efficient and accurate, and findings on Hawaii's multiethnic babies will be compared with those in California.
Hawaii's data also will be analyzed separately to get a better idea how often various disorders occur here and if there is a pattern of diseases in different ethnic groups, Balaraman said.
"The only flip side," he said, is that California expects to have 450,000 births for the study, while Kapiolani will have about 4,500.
Abnormalities will be reported to the baby's pediatrician, and the state will provide resources for confirmatory tests and follow-up, he said.
Not all disorders diagnosed have treatments, Balaraman said. But he added, "From a medical perspective, if there are babies in the unit who pass away and we're unable to say what happened, we may be able to have an answer now in some of these cases."
Au said the screening study will help the community and the state decide what to look for in babies and how much they are willing to pay.
The birthing fee now includes $27 for screening, a confirmation test if needed, and a follow-up program. The money goes into a special fund to support the program. The total cost with an additional 30 disorders would not be more than $40, Au estimates.
Balaraman said all states have screening for phenylketonuria (PKU), a disorder in which one of the amino acids is not properly metabolized, and congenital hypothyroidism, involving low thyroid levels.
Hawaii is among states that expanded tests, adding five more amino acid, organic acid and fatty-acid disorders to newborn screening in 1997.
"It's an extremely cost-effective program," providing preventative care for newborns, Matsumoto said.
One surprise, she said, was the detection of three babies with the rare maple syrup urine disease, an enzyme deficiency causing a unique odor of burned caramel. The national rate for that condition is one in 250,000, and in Hawaii it is one in 26,000, she said.
"The children might have died or had severe neurological developmental delays if their condition wasn't detected," she said, stressing the importance of newborn screening.
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Hawaii is holding on to an A grade for one of the best tracking and prevention programs for birth defects in the nation.
Isles keep top rating
for tracking birth defects
The state receives national recognition
for its monitoring and prevention program
By Helen Altonn
It was one of eight states with the highest ranking in a national study by the Trust for America's Health, a Washington, D.C.-based advocacy group.
Hawaii also was one of eight states earning A grades in the group's last survey of birth defects programs in 1999, said Sylvia Au, genetics coordinator in the state Health Department's Children with Special Needs Branch.
She said that Hawaii was one of four states meeting all the criteria in the previous study, "and I'm sure we're still one of the four."
Most states are not doing a good job of monitoring and preventing birth defects, the No. 1 cause of infant deaths in the nation, said the trust group.
About 150,000 babies, one out of 28, are born with defects each year, resulting in almost 20 percent of all infant deaths annually, according to the report.
Genetic and environmental factors can cause birth defects, but causes are unknown in as many as 80 percent of birth defects, it said.
"Our report shows we lack the most basic tool for preventing birth defects: information," said the trust's executive director, Shelley Hearne. "Without knowing the causes of birth defects, we are helpless to prevent them."
Hawaii's Birth Defects Program has been conducted statewide since 1988 by Ruth Merz with two staff members and a patchwork of funding, Au said. "It's a program we're very proud of. ... I'm amazed at the amount of work three people can do."
Hawaii has a reputation for publishing its report on birth defects faster than any other state, generally within six months after the fiscal year closes, she said, noting some states do not report for four years.
"I think that contributes to the A grade, because when we collect data, we want to be able to use it," said Au.
Receiving top grades for surveillance, collection and verification of data besides Hawaii were Arkansas, Oklahoma, California, Georgia, Iowa, Massachusetts and Texas.
Seven states and the District of Columbia flunked minimum standards, while others had B's, C's and D's.
Hawaii's program has a tracking system for all major structural birth defects and other adverse conditions from birth to age 1, and it conducts extensive and timely data analysis and reporting, the report said.
It offers prevention activities, conducts needs assessments on babies diagnosed with birth defects, monitors outbreaks, investigates clusters and potential clusters of birth defects and environmental factors linked with birth.
The program collaborated with the Defense Department to see if Agent Orange or the Gulf War syndrome increased risks of birth defects among veterans' children, Au said.
No effect was found in either case compared with children in the general population, she said.
Data also were collected that disproved reports of a cluster of children born in Foster Village with a higher rate of birth defects, Au said.
"It's very specific data. We could tell you the rate of birth defects on one side of the street vs. the other side of the street."
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