Newborn Screening: Introduction and History

Clinical Issues and Considerations


	Newborn Screening: Introduction and History NOTE: The list of disorders for which screening tests are available is expanding. For the most recent information on tests, visit the Web site of the National Newborn Screening & Genetics Resource Center. The goal of newborn screening is early identification of children at increased risk for selected metabolic or genetic diseases so that medical treatment can be promptly initiated to avert metabolic crises and prevent irreversible neurological and developmental sequelae. Early identification of these conditions is crucial, as timely intervention can lead to a significant reduction of morbidity, mortality, and associated disabilities in affected infants ⁽¹⁾. Today every state in the nation provides newborn screening for phenylketonuria (PKU) and congenital hypothyroidism ⁽²⁾. These two disorders set the scope for the classical benefits newborn screening can achieve, whereby early identification and treatment change the potential course of the infant’s life from dependent mental retardation to near full-functioning normalcy. In addition to these two disorders, many other disorders are amenable to screening using the dried blood specimen (now known as the Guthrie spot) collected at least twenty-four hours after birth. Programs across the nation have selected those conditions best suited for their populations based on pilot studies, availability of funds, the abilities and limitations of screening technology, and the availability of treatment protocols ^(2,3). A child diagnosed with a condition included in the newborn screening panel is at increased risk for significant morbidity and mortality caused by the condition. Medical specialists in metabolic diseases, cystic fibrosis, endocrinology and hematology can provide either on-going medical care or act as consultants to primary care physicians, depending on the needs of the family and the nature and severity of the condition. In addition, since most of the conditions included in the newborn screening panel are caused by genetic mutations, families need to be referred for genetic education and counseling to best understand the particular condition, its impact on the child’s health and future, and to understand the risks in future pregnancies. History In the 1930s George Jervis at Letchworth Village State School in Thiells, New York, identified 50 clients whose mental retardation was attributed to PKU ⁽⁴⁾. He pursued the study in four state institutions to identify a total of 185 PKU cases among 15,000 clients. Little could be done for these adults. However, work of Horst Bickel had suggested that early diet therapy could prevent development of the mental retardation usually seen in PKU ⁽⁵⁾. Early therapy depended on early detection of the affected child—before appearance of symptoms. Robert Guthrie, a microbiologist and pediatrician at State University of New York, Buffalo, devised a simple, inexpensive test which allowed screening for PKU to be done shortly after birth ⁽⁶⁾. In the early 1960s he coordinated a 29-state pilot study of 400,000 newborns, which proved so successful in identifying infants affected with PKU that many states instituted screening programs immediately ⁽⁷⁾. Today, nearly all of the 4 million infants born each year in the United States undergo newborn screening. Since there is currently no federal law regulating newborn screening programs, each state determines its own policies and procedures. To learn more, visit the Web site of the National Newborn Screening & Genetics Resource Center: Information about your state’s newborn screening program Information about disorders that your state currently screens for References 1. A report from the Newborn Screening Task Force convened in Washington, D.C., May 10-11, 1999. Pediatrics 2000;106(2):383-427. 2. National Newborn Screening & Genetic Resource Center (NNSGRC). 3. Committee on Genetics, American Academy of Pediatrics. Newborn screening fact sheets. Pediatrics 1996;98(3):473-501. 4. Jervis G. Phenylpyruvic oligophrenia: introductory study of 50 cases of mental deficiency associated with excretion of phenylpyruvic acid. Archives of Neurology and Psychiatry 1937;38:944. 5. Bickel H, Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953;2:812. 6. Guthrie R, Susi A.A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-43. 7. Guthrie R, Whitney S. Phenylketonuria detection in the newborn infant as a routine hospital procedure: a trial of a phenylalanine screening method in 400,000 infants. Children’s Bureau Publication 419. Washington (DC): U.S. Department of Health, Education and Welfare; 1964. The information contained in this section does not constitute the endorsement of any specific state policy or procedure by the March of Dimes. Content is based on the New York State Department of Health manual “Newborn Screening in New York State: A Guide for Health Professionals,” provided by the Newborn Screening Program, Wadsworth Center, New York State Department of Health. The material has been modified for a national audience, and additional information has been added by the March of Dimes.

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