The objective of neonatal screening for metabolic and genetic disorders is the early identification and treatment of affected individuals in order to avoid adverse health consequences such as mental retardation, serious illness, and death.
Neonatal screening in Iowa dates back to the 1960s when screening activities were initiated in an effort to identify newborns with phenylketonuria (PKU). The Birth Defects Institute (BDI) at the Iowa Department of Public Health was established in 1976. Legislation was passed in 1983 giving the BDI oversight responsibility for the Iowa Neonatal Metabolic Screening Program (INMSP). In 2004 the Birth Defects Institute name was changed to the Center for Congenital and Inherited Disorders.
The Center for Congenital and Inherited Disorders, with assistance from the Advisory Committee, designates the disorders to be screened and regularly evaluates the effectiveness and appropriateness of the program. Information pertaining to the Code of Iowa and the Iowa Administrative Code may be found in the Iowa Code, Rules and Regulations section.
The attending healthcare provider has the ultimate responsibility for the screening of the newborn and follow-up of abnormal screening results.
Parents or guardians may refuse the newborn metabolic screening test, but are required to sign the Iowa Neonatal Metabolic Screening Program Waiver For Newborn Screening Refusal after thorough discussion of the risks and benefits of testing with the attending healthcare provider.
The Center for Congenital and Inherited Disorders has designated the University Hygienic Laboratory (UHL) as the central screening laboratory for the program.
The Center for Congenital and Inherited Disorders has designated physicians from the Department of Pediatrics at the University of Iowa as program medical consultants. The program medical consultants assist attending healthcare providers in confirming a diagnosis, recommending treatment, and advising follow-up care.
The Center for Congenital and Inherited Disorders requires assurance of confidentiality and security of all patient records and program data.