SPRINGFIELD, IL – The Illinois Department of Public Health will expand the state's newborn screening program beginning Monday (July 1) to test all babies born in Illinois for at least 28 rare genetic and metabolic disorders, Dr. John R. Lumpkin, state public health director, today announced.

Illinois becomes just the seventh state to make use of sophisticated new medical technology, called tandem mass spectrometry, to provide testing for such a wide array of disorders.

"This new equipment will provide more Illinois children with the opportunity for improved quality of life," Dr. Lumpkin said. "Early diagnosis and treatment can be the difference between a healthy life and premature death, mental retardation or other developmental disabilities."

For many years, each of the 185,000 babies born annually in Illinois hospitals or at home have been tested for six disorders, including sickle cell disease and several metabolic defects. Phenylketonuria, or PKU, an inherited enzyme deficiency that can cause poor development or mental retardation, is probably the best known and has been tested for since 1965. Prior the current expansion of the screening program, parents of Illinois newborns could request additional testing through several outside laboratories.

A day after birth, hospital staff prick a baby's heel and collect a few drops of blood on special filter paper. The sample, which will be used to check for all 28 disorders, is then sent to the Department's Chicago laboratory for analysis. Results are returned to the hospital or to the baby's physician within two to four days.

The Department began preparations for the expanded testing a year ago by purchasing four tandem mass spectrometry machines at a cost of $1 million, hiring and training staff to complete the tests, and getting approval for rules to change the newborn screening requirements.

The current fee – $32 to screen for six disorders – will remain the same until the Department can determine what effect the expanded screenings will have on the program's operating costs.

Besides laboratory testing, the Department provides follow-up for infants with abnormal results, including tracking and referral to pediatric specialists, and assistance with payment for diagnostic testing and prescription medical treatment formulas for affected children.

Illinois will be the seventh state to offer the expanded screening using tandem mass spectrometry, joining Georgia, Maine, Massachusetts, Minnesota, North Carolina and Wisconsin. Children born with errors in their body chemistry often show no outward symptoms. If these rare, but serious disorders are not discovered early, however, slow or poor physical and mental development may occur. It is estimated that 300 infants each year are identified as having one of the six conditions for which screening is currently done.

The new tests allow the Department to screen for a number of amino acid, urea cycle, fatty acid oxidation and organic acid disorders. Babies with these rare disorders cannot break down or remove certain chemicals from their bodies. Without treatment, these chemicals can build up in the baby's body and cause serious health and developmental problems. It is expected that this additional screening capability will identify about 70 babies each year.

Treatments depend on the disorder the baby has, but may include special diets, supplements, medical treatments and medications. If found early, treatment can prevent some serious problems.