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Coordinated system for comprehensive newborn metabolic screening

P M Fernhoff, N Fitzmaurice, J Milner

    Southern Medical Journal
    |May 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

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    Georgia

    Area of Science:

    • Medical screening
    • Pediatric medicine
    • Metabolic disorders

    Background:

    • Expanded newborn screening in Georgia began in September 1978.
    • Included phenylketonuria (PKU) and five additional metabolic disorders.
    • Aims included initiating therapy within three weeks of birth.

    Purpose of the Study:

    • To evaluate the effectiveness of expanded newborn screening in Georgia.
    • To determine the incidence of detected metabolic disorders.
    • To assess the timeliness of diagnosis and initiation of therapy.

    Main Methods:

    • Screening of 167,458 specimens from infants, with 151,250 from those ≤1 week old.
    • Retesting over 90% of 2,299 infants with abnormal screening results.
    • Analysis of detection rates and time to diagnosis/treatment for various disorders.

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    Main Results:

    • Detected hyperphenylalaninemia (1/31,579), homocystinuria (1/151,250), galactosemia (1/63,352), transient tyrosinemia (1/3,158), congenital hypothyroidism (1/7,453), and thyroid binding globulin deficiency (1/12,670).
    • Average time to therapy initiation was 9.9 days for hyperphenylalaninemia, homocystinuria, and galactosemia.
    • Average time to therapy initiation was 21.3 days for congenital hypothyroidism.

    Conclusions:

    • Expanded newborn screening effectively identified infants with serious metabolic disorders.
    • Timely diagnosis and initiation of therapy were achieved for most screened conditions.
    • The program demonstrated the feasibility and benefits of comprehensive newborn metabolic screening.