The history of New Born Screening

The history of New Born Screening

  • 1960s – Robert Guthrie is given much of the credit for pioneering the earliest screening for phenylketonuria in the late 1960s using blood samples obtained by pricking a newborn baby’s heel on the second day of life on filter paper.
  • 1961 – Robert Guthrie came up with bacterial inhibition assay for PKU, no technology could reliably identify asymptomatic infants with PKU within the first week of birth, when treatment impact is greatest. In contrast, Guthrie’s test was cheap, easy, and reliable.
    • the National Association for Retarded Children, whose members included health professionals and parents of children with mental retardation, began a public campaign in support of PKU screening.
    • Meanwhile, President John F. Kennedy promised to double funding of the National Institute of Health for mental retardation research and created a presidential advisory commission on mental retardation.
  • 1963 – Massachusets universal screening
    • His history of broad-based PKU screening began in 1963, when, following the invention of a vastly improved test to detect PKU in infants, Massachusetts became the first state to mandate screening—that is, to make screening of all newborns compulsory by law.
    • The National Association for Retarded Children (NARC), an organization representing parents of retarded children and professionals in the field, advocated the screening and found that its application was very uneven.
  • 1965 – 32 American states had enacted screening laws, all but 5 making the test compulsory.
  • Mid-1970s, NBS for PKU had become routine in nearly every industrialized nation, and had even extended to many poorer countries.2
  • 1970s – Congenital hypothyroidism was the second disease widely added in the 1970s. Guthrie and colleagues also developed bacterial inhibition assays for the detection of maple syrup urine disease and classic galactosemia.
  • 1975 – electrophoresis for SSD first multiplex test
    • forty-three states had enacted such laws and 90 percent of all newborns were being tested. Today, every American state screens newborns for PKU and congenital hypothyroidism. Nearly all screen for additional metabolic disorders as well. In only two states (Maryland and Wyoming) is explicit parental consent required for every screening program.
  • 1985 – Galactosemia Screening Begins… Galactosemia is a disorder resulting from the inability to breakdown galactose in milk and milk products. Although classical galactosemia only has an incidence of 1 in 41,000, without treatment the disease is fatal within a few days or weeks after birth. Also in 1985, the Missouri Genetics Disease Advisory Committee was formed. Legislation required this committee to advise DHSS regarding the NBS program’s policies and panel of disorders.
  • 1990s –
    • In the early 1990s, scientists proposed that tandem mass spectrometry, a technology used in biochemistry laboratories, might prove useful in newborn screening.
    • The development of tandem mass spectrometry screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases that can be identified by characteristic patterns of amino acids and acylcarnitines
  • 1994 – MS/MS second multiplex test
    • In the United States, the American College of Medical Genetics recommended a uniform panel of diseases that all infants born in every state should be screened for. They also developed an evidence-based review process for the addition of conditions in the future. The implementation of this panel across the United States meant all babies born would be screened for the same number of conditions. Prior to this, babies born in different states had received different levels of screening.
  • 2000 – DNA Analysis as second tier
  • 2006 – LSDs first to challenge functioning system
    • Towards a uniform NBS system with a panel.
  • 2007 – Newborn Screening Saves Lives Act, USA.
  • 2008 – On April 24, 2008, President George W. Bush signed into law the Newborn Screening Saves Lives Act of 2007. This act was enacted to increase awareness among parents, health professionals, and the public on testing newborns to identify certain disorders. It also sought to improve, expand, and enhance current newborn screening programs at the state level.


  • Wikipedia
  • American academy of pediatrics
  • National Human Genome Research Institute

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