CONTACT: DAVE PEDERSEN
Iowa City IA 52242
(319) 335-8032; fax (319) 384-4638
Release: Jan. 17, 2003
Iowa Neonatal Metabolic Screening Program provides early detection of
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.