Newborn screening extended

By Catherine E. Toth
Advertiser Staff Writer

A pilot newborn screening program will extend its free testing through next summer, giving new mothers a chance to have their babies checked for a wider variety of rare disorders.

One baby boy was diagnosed with isovaleric acidemia, an organic acid disorder caused by a deficiency of a particular enzyme that breaks down protein. The condition is found in one of every 100,000 babies born nationally.

"I feel very lucky," said the boy's 24-year-old mother, who requested not to be named to protect her child's privacy.

Her son, who is on a prescribed formula, is doing fine, thanks to the early detection. Had the disorder been discovered later, the child might have suffered from severe mental retardation or died.

"I recommend all mothers get this test because they wouldn't know if their babies had this kind of disease," said the full-time mother of three, who lives in Mililani. "If I didn't do it, I wouldn't have known."

Her experience is exactly why many health experts support expanding the screening for newborns.

"The more information you have in the newborn, the better," said Dr. Lynn Yanagihara, a pediatrician at Straub Kane'ohe Family Health Center.

The Hawai'i Newborn Screening Program, part of the state Department of Health, launched the pilot project, which uses new technology called tandem mass spectrometry, to gauge whether expanding newborn screening tests offered by the state would be cost-effective and necessary. Specimens collected are sent to Oregon State Public Health Laboratory.

The program will continue to offer the free testing at Kapi'olani Medical Center for Women & Children through Aug. 31, 2003. The state will most likely mandate the expanded screening beginning Sept. 1, 2003, said program coordinator Christine Matsumoto.

"If we can save one baby, it's worth it," Matsumoto said.

Babies born in Hawai'i are required to be screened for seven potentially serious disorders, such as congenital hypothyroidism. The pilot program screens for 18 more disorders, including isovaleric acidemia.

More than 99 percent of all babies born in Hawai'i are screened in the mandated program. About 79 percent of mothers have consented to participate in the pilot program at Kapi'olani, which handles about one-third of all births in the state.

The program hopes to have the expanded testing done in all 14 birthing facilities in the state.

The program's newborn metabolic screening advisory committee of physicians, specialists, parents, and representatives from insurance companies and birthing facilities supports the DOH's efforts to expand the testing. There will also be public hearings on the administrative rules to expand the testing in late spring.

Should the state decide to expand its required newborn screening, the cost will jump from $27 to $47. Newborn screening is typically covered by insurance. Matsumoto said the program will encourage insurance companies to cover the additional cost for the expanding testing.

"Cost is always going to be a concern, and that's a problem," Yanagihara said. "But everybody wants as much information as you can get."

Matsumoto said she was surprised that two babies have been diagnosed with forms of the rare disorders the new technology can detect. That may indicate a higher incidence rate in these metabolic disorders in babies born in Hawai'i than the rest of the country, though she said it's still too early to tell. (The state would have to screen a larger number of babies at various birthing facilities to make a more accurate assessment on incidence rates.)

But according to data compiled from July 1997 to July 2000, Hawai'i has an incidence rate higher than the national rate for four of the seven disorders mandated by the state for screening.

For example, one in 26,661 babies born in Hawai'i is detected with maple syrup urine disease, which can cause mental retardation or death; the national incidence is one in 150,000.

The higher rate may be due to the ethnic diversity in Hawai'i, experts say.

"Hawai'i is very different from the Mainland," said Janet Brumlay, a genetics nurse with the Queen's Comprehensive Genetics Center, who didn't find the higher incidence rates that surprising. "I don't think we could take national statistics and apply them to Hawai'i. It wouldn't work."

The pilot program is being financed by a $3.9 million federal grant awarded to California, which invited Hawai'i to participate. Several states have already expanded their newborn screening.

Reach Catherine E. Toth at 535-8103 or ctoth@honoluluadvertiser.com.