Newborn screening is an organized process of identifying medical conditions in newborn babies that, if untreated, can cause developmental delays, serious illness, or even death. Generally, these conditions cause no symptoms in the first days of life. Screening programs have therefore been developed to identify and treat babies with these conditions before permanent damage occurs. In the United States, these programs are usually mandated by state public health laws.
In 1964, phenylketonuria (PKU) became the first disorder subject to generalized newborn screening. Phenylketonuria causes mental retardation due to the baby's inability to metabolize the amino acid phenylalanine, which then accumulates in the blood. It can be successfully treated with a diet low in phenylalanine. PKU is diagnosed through a blood sample. Since 1964, technological advances allow screening for many more diseases on the same blood sample, including adrenal hyperplasia, biotinidase deficiency, blood sample, including cystic fibrosis, galactosemia, homogystinuria, hypothyroidism, maple syrup urine disease, and sickle cell disease. Abnormal results are reported to the baby's doctor with recommendations for further confirmatory testing and treatment.
Screening for hearing impairment was implemented in the 1970s. Initially, only known risk factors, such as a family history, prompted a hearing test. In the 1990s, universal newborn hearing screening began to be implemented in the United States and in Europe. Children with moderate to severe hearing impairment benefit by diagnosis and treatment early in life to maximize speech and language development.
JOHN H. VOLLMAN
Erbe, R. W., and Levy, H. L. (1997). "Neonatal Screening." In Emery and Rimoin's Principles and Practice of Medical Genetics. New York: Churchill Livingstone.
National Institutes of Health (1993). "Early Identification of Hearing Impairment in Infants and Young Children." NIH Consensus Statement 11(1):1–24. Washington, DC: Author.