Michigan Cares

In the state of Michigan, every baby born is screened for eight rare disorders that can have serious health outcomes if not detected and treated early in life. The screening is a statewide program administered by the Michigan Department of Public Health. It is accomplished through blood tests using small samples of blood taken from the baby’s heel about two days after birth. The samples are then sent to the Michigan Department of Community Health laboratory for testing. The Newborn Screening Endocrine Follow-up Program at the University of Michigan C.S. Mott Children’s Hospital Division of Endocrinology is the only group in Michigan responsible for coordinating follow-up for babies who test positive for two of the endocrine disorders—congenital hypothyroidism and congenital adrenal hyperplasia (CAH).

These conditions are undetectable in newborns, even affected babies appear normal at birth. Therefore, it is crucial to complete these screening tests within the first few days of life. If not treated very early in life, these disorders can cause mental retardation and other serious problems, even death. According to Ram Menon, M.D., Director of Pediatric Endocrinology, “By diagnosing and treating these diseases, we have seen a significant decline in the morbidity and mortality rates in newborns attributable to these diseases. Likewise, we would see the negative impact, both monetarily and socially, if we did not screen, diagnose, and treat these children.”

In Michigan, congenital hypothyroidism occurs in about 1 out of every 3,000 births, or about 40 to 50 babies a year. Hypothyroidism occurs when a baby does not make enough thyroid hormone. Thyroid hormone is essential for proper brain development and body growth. When this disease goes untreated, irreversible mental retardation results. Screening allows this disorder to be diagnosed before mental retardation occurs, and babies can begin treatment with regular thyroid hormone replacement. Carol Foster, M.D., Director of the Endocrine Follow-up Program, states, “For newborn screening, hypothyroidism screening has been the most successful of all the programs. The goal is to eliminate mental retardation, and this is obtainable if these kids get treated while less than one month of age.”

Congenital adrenal hyperplasia occurs in about 1 out of every 17,000 babies born, or about eight babies a year in Michigan. It is a disorder that affects the hormones produced by the adrenal glands. Without screening, babies with CAH often become ill and die before a diagnosis is made. However, early diagnosis and treatment are lifesaving. Foster states, “This is a program where the goal is to prevent newborn death. In a few instances we have tracked down a family in the emergency room with their newborn who was not doing well, and told the ER staff that we suspected the child of having CAH. They gave the child medication and it was lifesaving.”