Center for Congenital and Inherited Disorders

Iowa Neonatal Metabolic Screening Laboratory

The newborn screening section of the State Hygienic Laboratory (SHL) began providing PKU testing services in 1966. In 1980, pilot testing was initiated for galactosemia, maple syrup urine disease (MSUD), and hypothyroidism. In 1983, newborn screening became mandatory for these disorders in Iowa; the SHL was identified as the "Central Screening Laboratory." In February 1988, hemoglobinopathy screening was providing medium chain acyl-CoA dehydrogenase (MCAD) deficiency testing using tandem mass spectrometry (MS/MS) methodology since 1999. In July 2002, biotinidase deficiency screening was added to the panel. Cystic fibrosis screening was added to the screening panel in 2006.

SHL routinely provides information and consultation to the IDPH and to the Congenital and Inherited Disorders (CIDAC) Advisory Committee, IDPH's advisory committee for genetic services, for improving the program and ensuring the state program continues to provide the most appropriate services for the state and the babies born here.