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| Neonatal Chemistry |
Colleen Peterson, Director Introduction Screening for neonatal phenylketonuria (PKU) was mandated in Kansas in 1965. The law was amended to include testing for congenital hypothyroidism in 1977, and amended in 1984 to add galactosemia screening. Screening for hemoglobinopathies commenced in 1990. Under State law, it is the responsibility of the person in charge of the hospital, birthing facility, or the attending physician to provide an appropriate blood specimen for PKU, hypothyroidism, galactosemia, and hemoglobin screening on all infants in their care. The specific details of newborn screening are addressed in Kansas Administrative Regulations for Phenylketonuria, Congenital Hypothyroidism, Galactosemia, and Sickle Cell Disease. A specimen for all newborns must be sent to the Kansas Department of Health and Environment. To ensure screening of all newborns in the State of Kansas, a blood specimen should be obtained prior to hospital discharge or prior to transfer to another hospital. Neonatal screening has proven to be an effective method for identifying PKU, hypothyroidism, galactosemia, and hemoglobinopathies before mental retardation or morbidity occurs. Screening will identify infants in most cases before the onset of clinical symptoms. The Neonatal Screening Laboratory identifies newborns at risk for the above genetic and metabolic disorders. A definite diagnosis and therapy is provided either by the family physician or consultants to the newborn screening program.
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