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 technologic
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. The table below lists the conditions currently tested for in most states, with links to pages describing them.
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] 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.
A study of primary care physicians' attitudes regarding newborn screening follow-up, identified the need for new strategies
to ensure appropriate initial counseling, diagnosis, and subspecialty referral.
[Kemper: 2006] We hope the pages that follow will guide our users toward that goal.
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 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 and links to more information for physicians and for parents, click the condition name in the table below. The table was
adapted with permission from the
ACMG ACT Sheets and Confirmatory Algorithms page.
Page Bibliography
Alexander D, van Dyck PC.
A vision of the future of newborn screening.
Pediatrics.
2006;117(5 Pt 2):S350-4.
PubMed abstract
Kemper AR, Uren RL, Moseley KL, Clark SJ.
Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results.
Pediatrics.
2006;118(5):1836-41.
PubMed abstract
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome,
and implications.
Pediatrics.
2003;111(6 Pt 1):1399-406.
PubMed abstract
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):448-56.
PubMed abstract
van Dyck PC, Edwards ES.
A look at newborn screening: today and tomorrow.
Pediatrics.
2006;117(5 Pt 2):S193.
PubMed abstract
