Most U.S. Newborns Now Screened for Genetic Disease

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Montana expects to have its 29-condition mandatory screening program in place by the beginning of 2008, Higgins added. Until now, the state has required newborn screening tests for only four types of genetic disorders, although additional testing has been available at parents' requests. Montana is already is screening almost all of its 12,000 newborns each year and in about one-third of the cases parents have asked for expanded screening.

Pennsylvania, with nine tests required, and Arkansas, which requires seven tests, will be the only remaining states requiring newborn screening for less than 10 conditions. Washington State, Nebraska, Oklahoma, Massachusetts and New Hampshire's programs now mandate between 10 and 20 tests.

"The ironic thing is that in the states that don't do all these screens, when babies show up in the ER in dire circumstances, treatment -- although too little, too late -- is automatically provided," Howse added. It makes little fiscal sense not to screen, she said, because treatment for these conditions is expensive. Even more important, "babies can die or are terribly, terribly disabled for a long period of time," Howse said.

Treatments are simple and cheap for some conditions. Dr. Mariana Glusman, a pediatrician at Children's Memorial Pediatric Uptown Clinic in Chicago, said that she has seen cases of congenital hypothyroidism caught early through newborn screening.

After treatment with a thyroid hormone, such as Synthroid, the babies develop normally, Glusman said. Without such treatment, their growth and brain development would have been retarded. "These are very rare diseases," Glusman said, referring to the 29 conditions on the screening list. "Catching them early really makes a difference."

Five of the states that screen for 28 conditions do not automatically screen for functional hearing loss, although such screening is offered. Seven other states that mandate screening for 28 conditions do not require testing for cystic fibrosis, which has a prevalence of more than one in 5,000 babies, according to the March of Dimes data. The March of Dimes only recently has begun to recommend newborn screening for cystic fibrosis.