Making the case for better newborn screening

During a visit to the School of Medicine in August, U.S. Sen. Christopher Dodd couldn’t resist showing his audience a picture of his daughter, then just a few weeks away from her first birthday. But there was a point the doting father wanted to make about her birth at a hospital in Virginia. “At no stage were we ever advised of the importance of newborn screening,” he said at Pediatrics grand rounds.

Dodd’s daughter was born healthy, but newborn screening for genetic defects can mean the difference between life and death. Congenital metabolic defects that can be detected by screening can cause mental retardation and sudden death. Physicians check for eight disorders in Connecticut, and recent legislation will expand screening in January to cover two additional metabolic disorders. Access to screening varies, however, from state to state.

Dodd has proposed federal legislation that would provide funding to expand the scope of screening. “Parents must know what their state requires and their options to receive supplemental screening if they so desire,” Dodd said. He came to Yale at the invitation of Scott A. Rivkees, M.D., associate professor of pediatrics, who testified on the topic in June before a U.S. Senate committee.