Back to Annual Meeting Page		American Public Health Association 133rd Annual Meeting & Exposition December 10-14, 2005 Philadelphia, PA

Abstract #115112

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

• Discuss the strengths and limitations of the current practice of tandem mass spectrometry (MS/MS) in newborns in the United States.
• Assess the status of newborn screening in their state.
• Evaluate the need for federal guidelines for MS/MS screening in newborns in the United States.

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.