Newborn screening began in 1962 when babies were tested to identify those born with phenylketonuria (PKU). According to Saving Babies Through Screening, an organization in Port Angeles, Wash., dedicated to promoting newborn screening, at 24 hours to 48 hours old, babies are given a newborn screening test via a heel prick to screen for a variety of conditions that could cause death, mental retardation or physical disability. The test is capable of screening for up to 50 disorders, but different states require screening for different disorders, and most screen for less than eight.

"Most babies with disorders look and act normal and seem perfectly healthy," says Terilyn DePaolo, operations manager at Save Babies Through Screening. "The newborn screening test helps your doctor catch a problem with your baby before it makes him or her sick. Most babies that are diagnosed and treated early live normal lives."

The comprehensive newborn screening is comprised of state mandated screening of three to 10 disorders, plus supplemental screening of an additional 20, explains Dr. Don Chace, section chief of the division of bioanalytical chemistry and mass spectometry at Neo Gen Screening in Bridgeville, Pa. "Supplemental screening is almost always offered by private labs to supplement the disorders not screened for by a state program," he says.

Some states are close to offering the "comprehensive" package of screening for 30 diseases. "Comprehensive screening is never stagnant, as new diseases are becoming recognized, and with new methods to detect them and better treatments, they will be added to a supplemental panel," says Chace.

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