Published online July 1, 2008
PEDIATRICS Vol. 122 No. 1 July 2008, pp. 211 (doi:10.1542/peds.2008-1010)

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LETTER TO THE EDITOR

A False-positive Newborn Screening Result: Goat's Milk Acidopathy: In Reply

Beth A. Tarini, MD, MS
Division of General Pediatrics
Child Health Evaluation & Research Unit
University of Michigan
Ann Arbor, MI 48103

Dimitri A. Christakis, MD, MPH
Center for Child Health, Behavior and Development
Seattle Children's Hospital Research Institute
Seattle, WA 98115-8160

H. Gilbert Welch, MD, MPH
Veterans Affairs Outcomes Group
White River Junction, VT 05009
Center for the Evaluative Clinical Sciences
Dartmouth Medical School
Hanover, NH 03755

We thank Chapman et al for their description of a false-positive newborn screening result caused by goat's milk acidopathy, because it illustrates a number of important principles that are relevant to newborn screening.

First, their case exemplifies the adage that medical history often provides the most helpful information in a medical evaluation. Given our society's fascination with the latest screening and diagnostic medical technology, medical history is often undervalued. Yet, in this case, the history of undiluted goat's milk ingestion, not technology, was critical in identifying the cause of the metabolic disturbance.

The physicians' ability to find information about the potential for goat's milk to cause an acidopathy was also vital in solving this case. As states expand newborn screening and the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children considers the addition of other disorders to state newborn screening panels,¹ systematic collection and dissemination of this type of information will prove invaluable to health care providers who care for infants with positive screening results.

Finally, this case illustrates the importance of clear communication between health care providers and parents during the process of evaluating a positive newborn screening result. When notifying parents that their child's newborn screening result is positive, health care providers must ensure that parents understand that the newborn screening result is not a diagnosis. The initial screening result identifies newborns who are at risk for the disorder screened, and the majority of positive screening results will be designated as false-positive.^2,3 Only with additional medical evaluation and testing can we determine if a child actually has the specific disorder. Although this distinction may seem obvious to some, studies have shown that parents' understanding of this issue and the newborn screening process is less than optimal² and that there is room for improvement in our communication with parents.

REFERENCES

1. Green NS, Rinaldo P, Brower A, et al. Committee report: advancing the current recommended panel of conditions for newborn screening. Genet Med.2007; 9 (11):792 –796[Web of Science][Medline]
2. Waisbren SE, Albers S, Amato S, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA.2003; 290 (19):2564 –2572[Abstract/Free Full Text]
3. Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics.2006; 118 (2):448 –456[Abstract/Free Full Text]

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PEDIATRICS (ISSN 1098-4275). ©2008 by the American Academy of Pediatrics

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This Article Extract Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in Web of Science Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Tarini, B. A. Articles by Welch, H. G. Search for Related Content PubMed Articles by Tarini, B. A. Articles by Welch, H. G. Related Collections Office Practice Social Bookmarking                         What's this?