Published online August 1, 2006
PEDIATRICS Vol. 118 No. 2 August 2006, pp. 448-456 (doi:10.1542/peds.2005-2026)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via ISI Web of Science (16)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Tarini, B. A.
Right arrow Articles by Welch, H. G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Tarini, B. A.
Right arrow Articles by Welch, H. G.
Related Collections
Right arrow Office Practice

ARTICLE

State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False-Positive Results

Beth A. Tarini, MDa,b, Dimitri A. Christakis, MD, MPHa,b,c and H. Gilbert Welch, MD, MPHd,e

a Robert Wood Johnson Clinical Scholars Program
b Department of Pediatrics
c Child Health Institute, University of Washington, Seattle, Washington
d Veterans Affairs Outcomes Group, White River Junction, Vermont
e Center for the Evaluative Clinical Sciences, Dartmouth Medical School, Hanover, New Hampshire

BACKGROUND. The advent of tandem mass spectrometry has made it possible to test newborns for multiple conditions efficiently. It is not known how state newborn screening programs have changed screening practices in response to this technology and how it affects the number of false-positive test results.

METHODS. We obtained data from the National Newborn Screening and Genetics Resource Center regarding the screening practices for each of the 50 states, to determine the number of mandated disorders added to state newborn screening panels between 1995 and 2005. Combining these data with reported specificities from the literature and the number of births in each state, we estimated the number of infants who would have received false-positive results through screening with tandem mass spectrometry in 2005.

RESULTS. The average state mandated screening for 5 disorders in 1995 (range: 0–8 disorders). Wyoming was the only state that decreased its panel size over the next decade. Kansas and Texas were the only states that did not add disorders to their panels between 1995 and 2005; the average state added 19. Iowa, Minnesota, Mississippi, South Dakota, and Tennessee each added ≥40 disorders. Assuming that an individual test for a disorder had a specificity of 99.995%, we estimated that ~2575 infants would have received false-positive results through screening with tandem mass spectrometry in 2005. If specificity was assumed to be 99.9%, then the number increased to >51000.

CONCLUSIONS. State newborn screening programs have expanded dramatically in the past decade. Because the benefit of such testing may be unclear in some cases and because the number of infants who may receive false-positive results and may be labeled falsely as having disease is potentially sizeable, a more cautious approach is needed.

Key Words: newborn screening • metabolic disorders • false-positive results

Accepted Feb 23, 2006.




This article has been cited by other articles:


Home page
 J Pediatr PsycholHome page
B. Wilfond and L. F. Ross
From Genetics to Genomics: Ethics, Policy, and Parental Decision-making
J. Pediatr. Psychol., July 22, 2008; (2008) jsn075v1.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
K. A. Chapman, J. Ganesh, and C. Ficicioglu
A False-positive Newborn Screening Result: Goat's Milk Acidopathy
Pediatrics, July 1, 2008; 122(1): 210 - 211.
[Full Text] [PDF]

Home page
 PediatricsHome page
B. A. Tarini, D. A. Christakis, and H. G. Welch
A False-positive Newborn Screening Result: Goat's Milk Acidopathy: In Reply
Pediatrics, July 1, 2008; 122(1): 211 - 211.
[Full Text] [PDF]

Home page
 Policy Politics Nursing PracticeHome page
H. Bishop Hubbard
Policy Issues Related to Expanded Newborn Screening: A Review of Three Genetic/Metabolic Disorders
Policy Politics Nursing Practice, August 1, 2007; 8(3): 201 - 209.
[Abstract] [PDF]

Home page
 Arch Pediatr Adolesc MedHome page
B. A. Tarini
The Current Revolution in Newborn Screening: New Technology, Old Controversies
Arch Pediatr Adolesc Med, August 1, 2007; 161(8): 767 - 772.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
G. la Marca, S. Malvagia, E. Pasquini, M. Innocenti, M. A. Donati, and E. Zammarchi
Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography-Tandem Mass Spectrometry
Clin. Chem., July 1, 2007; 53(7): 1364 - 1369.
[Abstract] [Full Text] [PDF]

Home page
 Health Aff (Millwood)Home page
P. H. Arn
Newborn Screening: Current Status
Health Aff., March 1, 2007; 26(2): 559 - 566.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
W. B. Hanley
False-positive Results in Expanded Newborn Screening
Pediatrics, February 1, 2007; 119(2): 414 - 415.
[Full Text] [PDF]