NEWBORN SCREENING

Background

Newborn screening is a public health activity for early identification of infants affected by certain genetic, metabolic, hormonal and/or functional conditions for which there is effective treatment with early intervention.

Over the last 35 years, the success of newborn screening programs has made screening routine for the 4 million babies born each year in the United States. Most of these tests can be done using a few drops of blood routinely taken from the newborn’s heel, usually in the hospital in the first days after birth. Currently each state or region operates by law its own newborn screening program. Therefore, individual programs vary in the number and types of conditions for which they test.

At present, all states screen for two conditions: 1) phenylketonuria (PKU), which causes mental retardation unless children begin a special diet immediately after birth; and 2) hypothyroidism, an easily treated hormone deficiency. Today, advances in technology enable many different newborn screening tests. In August 2000, a task force convened by the American Academy of Pediatrics and the Health Resources and Services Administration released a report on newborn screening. It outlines a national agenda for strengthening newborn screening programs.

March of Dimes Policy

The March of Dimes supports the screening of newborns for specific conditions when there is a documented benefit to the child. The Foundation advocates to improve policies and resources for these programs. Programs should include provisions to assure high quality testing with state-of-the-art technology, trained personnel, resources for necessary follow-up and treatments, and public oversight by experienced health professionals. Only the best available test for any given disorder should be used. The March of Dimes recommends that every baby born in the US and its territories receive, at a minimum, a core group of screening tests. Though more than 30 diseases can now be detected, the Foundation recommends starting with a core list of nine tests for which enough experience and data have been acquired to carry them out with confidence.

They include phenlketonuria (PKU), congenital hypothyroidism, congenital adrenal hyperplasia (CAH), biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, sickle cell disease, and with recent technologic advances, medium-chain acyl-CoA dehydrogenase deficiency (MCAD). The Foundation also recommends screening of newborns for hearing deficits (see separate Field Advisory on Newborn Hearing Screening). As new opportunities arise for screening and treatment, this core group will be expanded to include tests for additional disorders. The March of Dimes further recommends that all state programs be designed to attain at least this minimum standard while encouraging the establishment of programs to test for more diseases as the expertise and resources become available. Public health agencies are encouraged to work with health professionals and families to develop and maintain newborn screening systems that include appropriate follow-up and support. March of Dimes will continue to work to ensure that parents and the general public are informed about the value of newborn screening.

March of Dimes Practice

March of Dimes grantees developed the first screening tests for phenylketonuria (PKU), biotinidase deficiency and congenital adrenal hyperplasia (CAH), and contributed to the development of tests for hypothyroidism. As genetic science expands, March of Dimes research may lead to new tests for newborn screening. In the 1970s and 1980s, the Foundation worked at the state and federal levels to establish and strengthen newborn screening programs. The March of Dimes continues to advocate on behalf of infants, children and their families to improve public policies and provide adequate resources for these programs as newborn screening tests and treatments are developed and refined. The March of Dimes has recently formed a Newborn Screening Advisory Committee to provide expert advice in the development of policies and activities in newborn screening

References

• Health Resources and Services Administration, American Academy of Pediatrics, et al. Serving the family from birth to the medical home: a report from the Newborn Screening Task Force convened in Washington, DC, May 10-11, 1999. Pediatrics. 2000; 106 (suppl): 383.
• Howse JL, Katz M. The importance of newborn screening. Pediatrics. 2000; 106: 595.
• March of Dimes. Newborn hearing screening. White Plains (NY): 1999.
• Universal Newborn Screening. EP Foundation for Education, Inc. Oradell, NJ. 2001. 9/01