Spring 2005

Expanded newborn screenings save lives and prevent disability

During the first few days of a baby’s life, a number of screenings are performed to identify any health problems. These include the Apgar test and a physical exam shortly after birth, as well as hearing tests and a blood test for genetic disorders.

The newborn’s blood, obtained from a heel stick when the baby is at least 24 hours old, is sent to a state lab. The results of the screening are then sent to the child’s pediatrician.

“A baby with a metabolic disorder may appear perfectly healthy at birth, but by the time symptoms appear, may suffer physical problems, mental retardation or even death,” says Leann Rens, R.N., nursing director for St. John’s Newborn Nursery.

This year, the state of Missouri will begin screening for more than 20 genetic disorders in newborns. While St. John’s has offered expanded newborn screenings through a private lab for an additional fee for several years, the state has traditionally screened for only five disorders: phenylketonuria (PKU), a rare inherited condition that can cause mental retardation and neurological problems if treatment is not started within the first days of life; congenital hypothyroidism, galactosemia, hemoglobinopathies, (which include sickle cell disease) and congenital adrenal hyperplasia (CAH).

“The most common genetic disorders are PKU and hypothyroidism, which are treatable,” says St. John’s pediatrician Robert Steele, M.D. “I tell parents to keep in mind that there is the chance for a false positive. Since the state is going to begin screening for four times as many disorders as was required in the past, I expect to see even more false positives. We always repeat the screening if we suspect a false positive. If a baby is in fact positive for one of the disorders, we can usually intervene to prevent future problems.”

Not all disorders can be treated, Steele says.
“There are a few metabolic disorders that cannot be treated, but there is still a definite advantage in learning about any problems early on,” he says.

Metabolic disorders interfere with how food is built up or broken down. Children with a metabolic disorder may need blood transfusions, medication or a special diet to control their condition.

“The chances of a baby screening positive for one of these disorders are collectively about 1 in 5,000,” Rens says. “But when a baby does have a disorder, it’s imperative that they get treatment for it within a certain time frame. The benefit of screenings to the children who do have a disorder is immeasurable.”