KDHE Medical Detectives Work to
Prevent Neonatal Diseases and Protect Newborn Babies

Governor Graves' recognition of Services for Children With Special Health Care Needs Week during November 9-15 calls attention to efforts being waged even now to minimize some serious childhood diseases. Laboratory scientists, doctors, nurses, and state officials work together every day to prevent many neonatal diseases from seriously and permanently affecting any of the 38,000 babies who are born in Kansas each year.

Scientists at the Kansas Health and Environmental Laboratory screen blood specimens from every baby born in Kansas for four metabolic deficiency diseases. The testing done by the state public health laboratory and the follow-up by the KDHE Bureau for Children, Youth and Families (BCYF) are required under state law to ensure that neonatal diseases are detected early, when it is still possible to prevent the diseases from seriously impairing a child's physical and mental development.

"Prevention is the cornerstone of public health," emphasized Dr. Roger Carlson, director of the Kansas Health and Environmental Laboratory. "We are very proud of the role that the state public health agency has had in protecting the health of Kansas' newest and most vulnerable citizens for over more than three decades."

Kansas law requires that specimens be taken before the babies leave the hospital. Laboratory scientists conduct screening tests to determine whether a baby might be at high risk for phenylketonuria (PKU), hypothyroidism, galactosemia, or a hemoglobinopathy.

The hemoglobinopathy test is used to screen for sickle cell anemia and a number of other abnormal hemoglobin conditions. In addition, the screening test can identify special markers that are detectable only for a short time after the child is born. Thalassemia, a hereditary hemolytic anemia, sometimes presents itself in this manner.

"Every newborn is screened for four diseases," said Neonatal Screening Laboratory Director Willie Craft. "Contrary to popular myth, each of these diseases can strike any child."

PKU is a hereditary disorder affecting roughly one in 15,000 newborns. It is important to detect PKU early and initiate a special diet to prevent mental retardation, an effect of PKU.

Hypothyroidism occurs in about 1 in 5,000 newborns. The disorder is usually due to an error in the formation or function of the thyroid gland. Hypothyroidism slows the normal development of the central nervous system and causes severe mental and physical impairment. The effects are generally irreversible if untreated within the two to three months following birth.

Galactosemia is present in approximately 1 in 62,000 newborns. If the disease is detected within the first days of life, infants can be placed on diets to prevent complications. Without early treatment, the disease can cause cataracts, liver and kidney damage, mental retardation, and sometimes death.

Sickle cell anemia takes place in about 1 in 400 African-American newborns; and in an undetermined number of children of other heritages. The disease causes red blood cells to take on the shape of a sickle and become rigid, obstructing the circulatory system. Tissue beyond the obstruction will have an inadequate blood supply, which can cause severe pain in the hands, knees, and other joints.

"The optimal time to draw the blood specimen for PKU and hypothyroidism is 72 hours after birth," said Craft. "This is one more reason why it's best that newborn babies remain in the hospital for a reasonable amount of time following delivery. Specimens drawn earlier do not yield the most accurate results possible.

"We conduct public health screening tests and refer high risk infants to neonatal physician specialists for diagnosis. This means that we look for characteristics in blood specimens which indicate the possibility of disease," emphasized Craft.

Out of the 35,372 infants screened in 1996, nineteen had test results which were confirmed positive. More than 1.25 million infants have been screened during the past 32 years. Screening for PKU was mandated in 1965, hypothyroidism in 1977, galactosemia in 1984, and hemoglobinopathy in 1990.

The state laboratory also matches specimens received with the birth records at the state Office of Vital Statistics (OVS). This is done to ensure that the laboratory receives specimens for all infants; hospitals are also required to report births to OVS. Any unmatched infants are investigated by the laboratory, which includes contacting the birthing hospital.

Copies of all test results are sent to the hospital and family doctor. When a test result indicates the possibility of disease, the state laboratory refers the matter to nursing staff at BCYF, who coordinate efforts to ensure a conclusive diagnosis and, if necessary, prompt treatment.

"We phone the family physician immediately upon receiving a report of a presumptive positive test from the state lab," said BCYF Director Cassie Lauver. "A follow-up letter is sent to the doctor within 12 hours."

The family physician contacts the family and refers the infant for diagnostic evaluation by a medical specialist. If the specialist is on state contract, the specialist's services are provided at no cost to the family. Contract specialists are normally identified in BCYF correspondence to doctors.

"The specialists we have on contract are at the K.U. Medical Center in Kansas City and at Wesley Hospital in Wichita," Lauver explained. "After the specialist makes a diagnosis and reports it to the family physician, the physician advises us of the diagnosis. We provide the family with an Application for Children With Special Health Care Needs."

If the application is returned, Lauver said, lifelong treatment for the disease, provided by the state, is available. She noted that not all families return an application because some treatments are low-cost and readily available. Cases are kept on file as long as the person is alive, Lauver said, because the family may elect at any time to begin receiving treatment from the state. Or, the child in question may make that decision after he or she has reached 18 years of age.