Newborn Screening in the 21st Century: Current Status and Considerations: A White Paper from the Health Promotion and Prevention Committee, American Association on Mental Retardation, June 7, 2002

By Nehring, Wendy M. | The Exceptional Parent, April 2003 | Go to article overview

Newborn Screening in the 21st Century: Current Status and Considerations: A White Paper from the Health Promotion and Prevention Committee, American Association on Mental Retardation, June 7, 2002


Nehring, Wendy M., The Exceptional Parent


The advent of a newborn screening test for phenylketonuria (PKU) in the early 1960's heralded in an era of early screening tests that when positive, could begin the appropriate interventions to prevent the onset of mental retardation. Today, the debate over what tests to include during the newborn period and what follow up should be provided by states is being held across many professional and legal sectors. This white paper serves to (a) raise awareness among AAMR members on the issues, (b) disseminate information for informed decision-making among members, and (c) initiate discussion among members in relation to this topic. AAMR welcomes comments and discussion regarding this important topic.

The purpose of this white paper is to inform the members of the American Association on Mental Retardation (AAMR) on the current status of newborn screening in this country and to discuss the controversies that presently exist. The specific goals are to: (a) raise awareness among AAMR members concerning issues related to newborn screening, (b) disseminate current information to assist members in making informed decisions, and (c) establish an initial point of discussion regarding newborn screening issues. It is important to note that genetic screening may occur at any age and may be conducted at various times in one's lifespan, from preconceptual to prenatal to newborn to when specific developmental/health problems arise. This white paper will only focus on the newborn period.

The first newborn screening test to be developed was phenylketonuria (PKU) and this test was initially mandated for use in every newborn in Massachusetts in 1963. The test to identify the presence of elevated plasma phenylalanine was developed by Robert Guthrie in 1961 after it was found that the primary symptom of mental retardation was prevented with a special diet, eliminating this amino acid. Pressure to mandate this screening test came from the National Association for Retarded Children (NARC, now the Arc US), the Children's Bureau, and the Joseph P. Kennedy, Jr. Foundation. From this time, the number of newborn screening tests grew as the tests were developed.

Currently, every state and U.S. territory mandates the number of newborn screening tests, and this number varies from three to eleven. There is no national standard. The most common inborn errors of metabolism being screened by states and territories include PKU, hypothyroidism, galactosemia, bio biotinidase deficiency, congenital hypothyroidism, and maple syrup urine disease. More recently, hemoglobinopathies, cystic fibrosis, and amino acid, organic acid, and fatty acid oxidation disorders have been added. Many states are also requiring infant hearing screening tests. The most recent compilation of state mandated screening tests is from 1998 (National Newborn Screening and Genetics Resource Center, 2001). This document also reveals the prevalence and incidences of commonly mandated inborn errors of metabolism per state and territory, summation of fees charged per state and territory, infant ages at initial and secondary testing, and the laboratories providing newborn screening services in the United States. The National Conference of State Legislators (2002) also maintains a website for current legislative action concerning newborn screening in each state and territory.

Determining the appropriate number of newborn screening tests to be mandated by each state has produced much controversy in recent years. A major reason for this was the advent of tandem mass spectrometry in the late 1980s. This instrument can measure various components of the blood, urine, or plasma in about two minutes for approximately 20-30 metabolic disorders (the most common disorders are listed in a table *). Biotinidase deficiency and galactosemia cannot be screened by tandem mass spectrometry. The cost for tandem mass spectrometry testing is approximately $25.00 and provides a cost-effective means for screening (Pollitt, 2001). …

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