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Newborn Screening
Newborn screening programs in the U.S. began in the early 1960s with Robert Guthrie's development of the filter paper-based testing technology still
in use and known as the "Guthrie spot." The success of a pilot study that screened 400,000 newborns for PKU in 29 states,
led to immediate adoption of PKU screening by many states. Every state now employs newborn screening on blood specimens to
identify disorders that can, without early intervention, cause potentially serious illness, injury, or death. Recent technological
advances (e.g. tandem mass spectrometry or MS/MS) allow for rapid screening for many inborn conditions on very small samples
of blood. The March of Dimes website offers a brief history of newborn screening in the US. In 2006, Utah added MS/MS to its newborn screening program, testing for the conditions listed in the table below.
As with any screening test, newborn screening results in both true-positive and false-positive tests. Schulze et al described
the doubling of detection of inborn errors, and the incidence of false positives, associated with introduction of MS/MS screening
in Germany. [Schulze: 2003] In this section we aim to enable primary care physicians to respond to notification of a positive test, collaborating with
the family, the Utah Newborn Screening Program, and relevant pediatric specialists to confirm (or not) the test result and follow through with appropriate care and education
for the patient and the family. In a study of primary care physicians' attitudes regarding newborn screening follow-up, Kemper
et al identified the need for new strategies to ensure appropriate initial counseling, diagnosis, and subspecialty referral.
[Kemper: 2006] We hope the pages that follow will assist our users in these endeavors.
A supplement to Pediatrics (2006 May;117:S193-354) addressed a number of issues related to newborn screening in the U.S. In that supplement, Peter van
Dyck, MD, Associate Administrator, federal Maternal and Child Health Bureau (and former Director, Division of Community and Family Health Services, Utah Department of Health) offers both a look at
current programs and a vision for the future of newborn screening. [van: 2006]
[Alexander: 2006] A paper by Tarini et al discusses some of the problems related to expanded newborn screening, including false positive tests.
[Tarini: 2006]
For information about the conditions tested for in Utah and links to more information for physicians and for parents, click in the table below on the condition. Pages for the conditions
that are not indicated by a link are being developed. The table was adapted with permission from the ACMG ACT Sheets and Confirmatory Algorithms page.
Authors
Page BibliographyAlexander D, van Dyck PC. Kemper AR, Uren RL, Moseley KL, Clark SJ. Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF. Tarini BA, Christakis DA, Welch HG. van Dyck PC, Edwards ES. |
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