Newborn Screening: What's New?

Patricia Jones
December 2008
Laboratory Medicine;Dec2008, Vol. 39 Issue 12, p737
Academic Journal
Screening newborn infants for inborn errors of metabolism (IEM) began in the United States almost 50 years ago with the introduction of testing for phenylketonuria (PKU) in the state of Maine. As the understanding of genetics and metabolism grew, and as testing methodologies became more automated and sensitive, both the number of states performing newborn screening (NBS) and the number of disorders for which patients can be screened began to grow. During the 1990s and the first decade of the 2000s, a new technology was introduced called tandem mass spectrometry (MS/MS) into the clinical laboratory and NBS arenas, which spurred the growth of screening to include as many as 30 disorders by almost all 50 states and Washington, DC. This technology gave laboratories the ability to rapidly and accurately test for multiple IEM simultaneously. Newborn screening programs became an integral part of assessing the health and well-being of every infant born in the United States.


Related Articles

  • Expanded newborn blood spot screening. Mackie, Anne // British Journal of Midwifery;Feb2015, Vol. 23 Issue 2, p86 

    The author discusses the expanded National Health Services (NHS) Newborn Blood Spot Screening Programme to screen all newborn babies in England for rare but potentially disabling conditions such as maple syrup urine disease (MSUD), isovaleric acidaemia (IVA) and glutaric aciduria type 1 (GA1)....

  • Editorial: Newborn screening for inborn errors of metabolism (IEM). Arif, Hala S. // Iraqi Journal of Medical Sciences;2009, Vol. 7 Issue 2, p1 

    The author reflects on the issue regarding the incidence of inborn errors of metabolism (IEM). The author comments that IEM mostly happens due to a block in a metabolic pathway caused by a defect in an enzyme or transport protein. The author stresses that it could possibly be due to toxic...

  • New born screening: A boon for your child.  // Prevention India;Apr2010, p12 

    The article offers ways for preventing the infants from inborn errors of metabolism (IEM). It mentions about the implications of untreated phenylketonuria (PKU), that could result in neurological damage and mental retardation, for which the exclusion of amino acid phenylalanine in the diet and...

  • Promising outcomes in glutaric aciduria type I patients detected by newborn screening. Lee, Chee-Seng; Chien, Yin-Hsiu; Peng, Shinn-Forng; Cheng, Pin-Wen; Chang, Lih-Maan; Huang, Ai-Chu; Hwu, Wuh-Liang; Lee, Ni-Chung // Metabolic Brain Disease;Mar2013, Vol. 28 Issue 1, p61 

    Glutaric aciduria type I (GA-I) is an inborn error of lysine and tryptophan metabolism. Clinical manifestations of GA-I include dystonic or dyskinetic cerebral palsy, but when the symptoms occur, treatment is not effective. In Taiwan, newborn screening for GA-I started in 2001; we wish to...

  • Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.  // Current Medical Literature: Lysosomal Storage Disease;2012, Vol. 10 Issue 1, p13 

    The article presents the author's insights regarding the publication "Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals," by R. Y. Wang and colleagues. The author says that the publication is significant in summarizing the uncertainties and evidence...

  • Modelo de atención inicial de la fenilcetonuria y otras hiperfenilalaninemias en el Instituto Nacional de Pediatría. Vela-Amieva, Marcela; Ibarra-González, M. Isabel; Ibarra-González, C. Isabel; Monroy-Santoyo, Susana; Fernández-Laínez, Cynthia; Guillén-López, Sara; Belmont-Martínez, Leticia; Hernández-Montiel, Aída; Angel, Ariadna González-del; Ruiz-García, Matilde; Sánchez-Pérez, María del Carmen; Mejía-Navarro, Jesús; de la Luz Iracheta-Gerez, Ma. // Acta Pediatrica de Mexico;nov/dic2010, Vol. 31 Issue 6, p297 

    No abstract available.

  • Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital. Gündüz, Mehmet; Ünal, Sevim; Okur, İlyas; Ayrancı-Sucaklı, İclal; Güzel, Fatma; Koç, Nevra // Turkish Journal of Pediatrics;Jan/Feb2015, Vol. 57 Issue 1, p45 

    We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%). Admission complaints were poor feeding, decreased activity, jaundice, seizures, abnormal screening and respiratory...

  • The Price of Life. Stolberg, Sheryl Gay // Parenting;Aug2000, Vol. 14 Issue 6, p96 

    Deals with the availability of a technology which makes it possible to test for rare deadly diseases in newborn babies. Functionality of tandem mass spectrometry; Treatments for inborn errors of metabolism; Obstacles to newborn health screening.

  • Phenylketonuria.  // Journal of Medical Screening;Jun1999, Vol. 6 Issue 2, p113 

    The article presents information related to the disease phenylketonuroa (PKU), and its screening. The biochemically severe PKU carries a high percentage of risk of mental handicap often with epilepsy and microcephaly. It has been found that 1/10, 000 newborns in Great Britain have high...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics