Newborn Screenings

• Iowa Neonatal Metabolic Screening
• Iowa High-risk Infant Follow-up Program

Chris and Alicia Zwirlein of Waterloo were thrilled last November with the birth of their first child, Zachariah. They had contrary emotions when they learned through newborn screening results and confirmatory testing that Zachariah has a rare genetic disorder called MCAD deficiency.

Nonetheless, the screening may have saved Zachariah's life, and the Zwirleins are grateful for the counseling, education and successful treatment Zachariah subsequently received through the Iowa Metabolic Genetics Clinic at the University of Iowa.

MCADD, or medium chain acyl-CoA dehydrogenase deficiency, prevents newborns who have used up their sugar reserves from completely breaking down fats to derive energy from them. This places newborns at risk for hypoglycemia, which can cause lethargy, seizures and even brain damage and death.

The Iowa Neonatal Metabolic Screening Program detected Zachariah's problem during a pilot newborn-screening study to detect MCADD. During pilot studies, consultants follow up on any unusual results and do confirmatory testing if necessary.

The Iowa State Board of Health has now approved the addition of MCADD to the disorders routinely screened by the program. Iowa also screens all newborns for about a half dozen other disorders, as mandated over a decade ago by the Iowa Legislature. The screening is done in the Des Moines laboratory of the University Hygienic Laboratory. The Hemoglobinopathy Screening and Comprehensive Care Program, the Metabolic Management Clinic and the Endocrine Clinic of the Department of Pediatrics at University of Iowa Hospitals and Clinics provide follow-up and education. The Iowa Department of Public Health oversees the program.

The Iowa Department of Public Health has approved a pilot study to use tandem mass spectrometry to expand the number of disorders screened. That technology, used to screen for MCADD, can potentially screen for up to 30 inheritable metabolic disorders. Iowa is one of the first five states to acquire it.

"These disorders may be rare," said state health department director Stephen Gleason, DO, "but they can devastate the families involved. I'm proud that Iowa is showing its leadership by using its world-class scientists and premier facilities and institutions to screen all Iowa newborns."

Among those world-class scientists on the university's genetics team are Val Sheffield, PhD, MD, professor and director of the genetics division in the UI Department of Pediatrics. Mary J.R. Gilchrist, PhD, director of the University Hygienic Laboratory, is president of the Association of Public Health Laboratories.

Zachariah, meanwhile, is on a special low-fat, high-carbohydrate diet as well as medication, and his prognosis is good.

"He's doing great," said his mother, Alicia.

Iowa Birth Defects Institute

Iowa Neonatal Metabolic Screening

The objective of the Iowa Neonatal Metabolic Screening Program (INMSP) is the early identification and treatment of newborns affected with certain metabolic conditions. INMSP screens for six disorders: phenylketonuria, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, the hemoglobinopathies, and medium chain acyl-CoA dehydrogenase deficiency (MCAD).

Newborn metabolic screening is required by Iowa law and must be completed before discharge from the hospital. The INMSP is a fee-for-service program with laboratory, comprehensive care and educational components. The University Hygienic Laboratory is the central screening laboratory. A comprehensive follow-up program at the University of Iowa, Department of Pediatrics, provides families and their physicians with the expertise necessary to manage identified disorders.

For more information:

Jean Anderson, RN, MA, ARNP, State Coordinator for Genetic Services

Lucas State Office Bldg.

Des Moines, IA 50319-0075

Voice: 515 281-7584

Fax: 515 242-6384

E-mail: janderso@idph.state.ia.us