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American Public Health Association
133rd Annual Meeting & Exposition
December 10-14, 2005
Philadelphia, PA
APHA 2005
 
3296.1: Monday, December 12, 2005 - Table 5

Abstract #115112

Newborn screening for metabolic disorders in the United States: Is there a need for a comprehensive federal guideline?

Gillian Haber, BS MPH, MPH Program, Barry University, 1699 Daytonia Road, Miami Beach, FL 33141, 305-864-0353, ghaber@the-beach.net

In the United States, approximately four million babies are born every year and each infant undergoes some form of newborn screening at the time of birth. The federal government currently recommends screening for three disorders – phenylketonuria, sickle cell anemia and hypothyroidism. The 50 states and the District of Columbia screen for these three disorders and galactosemia; but the uniformity of screening ends there. Due to the development of tandem mass spectrometry (MS/MS), the number of metabolic disorders that can be screened for in newborns has greatly increased. States currently screen for between 4 and 36 disorders, many of which are rare and were undetectable in their presymptomatic phase until the advent of MS/MS. MS/MS technology cannot be used to screen for all disorders and is therefore an addition to current screening technologies and not a replacement for them. There is increased pressure from parent advocacy groups and others to use MS/MS technology. Studies show promising results with early diagnosis reducing morbidity and mortality of metabolic disorders. The unresolved issues include which set of disorders to screen for; the rate, expense and parental stress of false positives; and the costs of implementing the program and establishing follow-up care. Through a literature review, I conclude that MS/MS technology will soon be accepted as the standard of care and there is need for a federal guideline of disorders to screen for as well as a need for establishing cutoff values for reporting abnormal levels of analytes.

Learning Objectives: At the conclusion of the session, the participant will be able to

Keywords: Neonatal Screening, Federal Policy

Presenting author's disclosure statement:

I wish to disclose that I have NO financial interests or other relationship with the manufactures of commercial products, suppliers of commercial services or commercial supporters.

Evidence Based Topics in Maternal Child Health

The 133rd Annual Meeting & Exposition (December 10-14, 2005) of APHA