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Release: Jan. 17, 2003

Iowa Neonatal Metabolic Screening Program provides early detection of genetic diseases

Laura and Scott Conway of Polk City were happy first-time parents last April with the birth of their daughter, Brittany. The pregnancy and delivery had gone well, and their baby was healthy and vibrant.

However, newborn screening results and confirmatory testing showed that Brittany had phenylketonuria, also known as PKU, a rare genetic disorder that affects one out of every 12,000 newborns and can cause brain damage. Now nine months old, Brittany is fine and her parents are thankful, due in part to the Iowa Neonatal Metabolic Screening Program (INMSP).

The University of Iowa Hygienic Laboratory administers the INMSP under the direction of the Iowa Department of Public Health. The Hygienic Laboratory tests for seven disorders mandated by the State of Iowa that can cause mental retardation or life-threatening complications. The laboratory is currently conducting a pilot study using recently developed technology to detect more than 20 additional metabolic disorders. In Iowa, around 30 to 60 babies with metabolic disorders are detected each year.

Small blood samples are collected from every baby born in Iowa 24 to 48 hours after delivery, before the baby leaves the hospital. The dime-sized samples are applied to a special absorbent paper, allowed to dry and sent to the Hygienic Laboratory for testing. If one of the seven disorders is detected, the baby's parents and physician are notified immediately and arrangements are made for confirmatory tests. Special care for the infant is usually delivered before the disorder has time to cause damaging health effects.

For the Conways, follow-up care for Brittany is provided through the Metabolic Genetics Clinic at UI Hospitals and Clinics in Iowa City, which is also the only PKU clinic in the state. The Conways visit the clinic once every four to six weeks. The clinic does physical assessments and additional tests and provides education regarding the baby's nutritional needs. Since PKU is treatable with a special lifetime low phenylalanine diet, Brittany shows no visible signs of illness.

"When we first brought Brittany to the clinic, the staff told us that she would grow and develop like any normal child," Laura Conway said. "You don't believe it at first, since you're still somewhat shaken by the fact that your child has something you can't see. But they were right. She's doing great."

The success of the INMSP hinges on the interaction and collaboration between the UI Hygienic Laboratory, UI Hospitals and Clinics, Iowa Department of Public Health, and the hospitals that collect the blood samples and doctors who provide the regular pediatric care for these children, noted Stanton Berberich, Ph.D., who directs the INMSP through the Hygienic Laboratory.

"This program really demonstrates the effectiveness of various institutions in the public and private sector working together and really needing each other," Berberich said. "Each part of this program is essential. No one department, laboratory, hospital or clinic or physician alone could bring about the most benefit for the child."

For more information about the Iowa Neonatal Metabolic Screening Program, contact the Hygienic Laboratory's Des Moines facility at (515) 243-0141 (on the Web at www.uhl.uiowa.edu), the Iowa Department of Public Health at (515) 281-7584 (www.idph.state.ia.us/fch/fam_serv/ibdi.htm) or the Division of Medical Genetics at UI Hospitals and Clinics toll free at (800) 260-2065.