Division of Chemistry and Toxicology
Newborn Screening Section

Robert Guthrie (1916 - 1995) The "Father of Newborn Screening." Courtesy of Whatman, Inc.

The State of Michigan introduced newborn screening in 1965 when laboratory technology to identify newborns with phenylketonuria (PKU) first became available.  In 1977, a test for congenital hypothyroidism (CH) was added, and in 1985, galactosemia screening was initiated.  Public Act 14 of 1987 mandated further expansion. This Act added the three disorders; biotinidase deficiency, maple syrup urine disease (MSUD), hemoglobinopathies (sickle cell), designated the state laboratory as the sole testing site, mandated a fee to fund the program, and added comprehensive follow-up, medical management centers, and quality assurance.  A seventh test for congenital adrenal hyperplasia (CAH) was added in 1993. Since 1965, more than four million Michigan newborns have received the newborn screening panel of tests shortly after birth.

When an infant screens positive for one of the seven conditions, the Newborn Screening Laboratory notifies the follow-up office in the Bureau of Community Living, Children and Families. Lab Scientists also phone/fax one of the state-contracted medical management centers. For a metabolic condition, such as Phenylketonuria or Galactosemia, the Pediatric Neurology Medical Center is notified. If the test is positive for Congenital Adrenal Hyperplasia or Hypothyroidism, staff members contact the Pediatric Endocrine Center. A positive hemoglobinopathy is referred to the Sickle Cell Disease Association of America, Michigan Chapter, Inc. The physician responsible for care of the newborn is also informed. Depending on the test result, rescreening may be required, a serum test may be ordered, or, rarely, immediate referral to a specialist or hospital emergency room is ordered.

Harry Hawkins, Section Manager