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Newborn Disorders

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 table below lists the conditions currently tested for in most states, with links to pages describing them. For a current list of conditions screened for in each state, see National Newborn Screening Status Report (NNSBRC) (PDF Document 166 KB) .
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 local Utah Newborn Screening Program, (801-584-8256); See also Services below (choose your state, if present, from the drop-down in the upper left of this page before clicking on the link), 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] In a series of articles, Tarini et al. discuss some of the problems related to expanded newborn screening, including false positive tests and their impact on families. [Tarini: 2006] [Tarini: 2011] [Tarini: 2012]
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 ACT Sheets and Confirmatory Algorithms (ACMG) page.
Category Conditions Analyte
Amino Acid Disorders Argininemia
 Arginine
Argininosuccinic aciduria
Citrullinemia
 Citrulline
Homocystinuria
 Methionine
Maple syrup urine disease
 Leucine
PKU
 Phenylalanine
Tyrosinemia type 1
 Tyrosine
Endocrine Disorders Congenital adrenal hyperplasia
 17-OHP
Congenital hypothyroidism
 TSH, T4
Exocrine Disorders Cystic fibrosis
 Elevated trypsinogen
Fatty Acid Oxidation Disorders CACT deficiency
 C16 and/or C18:1
CPT1 deficiency
 C0; C0/C16+C18
Carnitine uptake deficiency
 C0
Glutaric acidemia type 2
 C4, C5, (C5-DC), C8, C10, C12 carnitines
LCHADD/TFP deficiency
 C16-OH +/- C18:1-OH
MCADD
 C8; C6,C10
Short-chain acyl-CoA deficiency (SCADD)
 C4
VLCADD
 C14:1 +/-
Hemoglobinopathies Sickle cell disease
 Hemoglobin FS
Organic Acidemias Glutaric acidemia type 1
 C5-DC
2M3HBA deficiency
3MCC deficiency
Beta-Ketothiolase deficiency
Biotinidase deficiency
HMG-CoA lyase deficiency
Holocarboxylase/multiple carboxylase deficiency
 C5-OH
Isobutyryl Co-A dehydrogenase deficiency
 C4
Malonic aciduria
 C3-DC
Methylmalonic acidemias
Propionic acidemia
 C3
Isovaleric acidemia
Short/branched chain acyl-CoA dehydrogenase deficiency
 C5
Other Disorders Galactosemia
 GALT, galactose
Hearing impairment
 Hearing loss

Resources

Information & Support

For Professionals

National Newborn Screening & Genetics Resource Center
Provides information for families and professionals about genetic screening; links to support and advocacy groups; links to state genetic contacts; newsletters; fact sheets; data reports; publications; and more.

Genetic Alliance
A nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities; their site provides access to myriad resources, services, policies, and publications.

Newborn Screening Coding and Terminology Guide (NLM)
Site sponsored by the National Library of Medicine to promote and facilitate the use of electronic health data standards in recording and transmitting newborn screening test results; includes standard codes and terminology for newborn tests and the conditions for which they screen, and links to other related sites.

Services

Newborn Screening Programs

Utah Newborn Screening Program, more info...
44 Mario Capecchi Drive
Salt Lake City, UT 84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

For other services related to this condition, browse our Services categories or search our database.

Authors

Author: Chuck Norlin MD, 4/2007
Reviewing Author: Nicola Longo MD, PhD, 4/2007
Content Last Updated: 1/2012

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.
Communicating with parents about newborn screening: the skill of eliciting unspoken emotions.
Arch Pediatr Adolesc Med. 2012;166(1):95-6. 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

Tarini BA, Clark SJ, Pilli S, Dombkowski KJ, Korzeniewski SJ, Gebremariam A, Eisenhandler J, Grigorescu V.
False-positive newborn screening result and future health care use in a state Medicaid cohort.
Pediatrics. 2011;128(4):715-22. PubMed abstract / Full Text

van Dyck PC, Edwards ES.
A look at newborn screening: today and tomorrow.
Pediatrics. 2006;117(5 Pt 2):S193. PubMed abstract