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FISH for Pre-implantation Genetic Diagnosis
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FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Genetic screening of the newborn in Australia. Results for 1978

D Pitt, J Connelly, I Francis

    The Medical Journal of Australia
    |September 8, 1979
    PubMed

    Insights

    Newborn screening in Australia has detected phenylketonuria (PKU) in 1 in 11,224 infants since the 1960s. In 1978, screening also identified 29 cases of congenital hypothyroidism.

    Area of Science:

    • Medical Genetics
    • Pediatrics
    • Public Health

    Background:

    • Newborn screening programs are crucial for early detection of genetic disorders.
    • Phenylketonuria (PKU) and congenital hypothyroidism are treatable conditions if identified early.
    • The Guthrie bacterial inhibition assay has been a standard for PKU screening since the 1960s.

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