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    • This is a Non-Federal dataset covered by different Terms of Use than Data.gov.

    Newborn Screening Disorders

    Metadata Updated: July 23, 2025

    This dataset contains three tables of aggregated (2009-2019) data on newborn screening disorders: 1) counts statewide , 2) counts by race/ethnicity, 3) counts by California region. The tables present counts of disorders that have been diagnosed by the California Newborn Screening Program. Counts were suppressed for disorders with fewer than 6 cases, as described in the individual table descriptions.

    The disorders are included on the core Recommended Uniform Screening Panel (RUSP) put forth by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) established under Section 1111 of the Public Health Service (PHS) Act, 42 U.S.C. 300b-10, as amended in the Newborn Screening Saves Lives Act of 2008. The SACHDNC recommends that every state newborn screening program include a uniform screening panel that currently includes 33 core disorders. The Newborn Screening Program screens for all of the core conditions except Spinal Muscular Atrophy, which began in June 2020. Newborn hearing loss screening and critical congenital heart disease screening are programs administered by the California Department of Health Care Services. Details of the disorders included on the RUSP can be found in the attachment: Recommended Uniform Screening Panel.pdf.

    Caution must be taken in interpreting these data because there is not a one-to-one relationship between a screen-positive test result and a disorder. A newborn can be screen-positive for more than one disorder. Conversely, a positive screen for one disorder can be associated with the diagnosis of a different disorder. Four types of sickle cell-related hemoglobinopathies (Sickle Beta0 Thalassemia, Sickle Beta+ Thalassemia, Sickle S/S Disease, and Sickle S/C Disease) were combined into one group called "Sickle Cell Disease." SCID cases are reported beginning March 2013. ALD cases are reported beginning February 2016. Pompe and MPS I cases are reported beginning August 2018.

    Access & Use Information

    Public: This dataset is intended for public access and use. Non-Federal: This dataset is covered by different Terms of Use than Data.gov. License: See this page for license information.

    Downloads & Resources

    Dates

    Metadata Created Date November 27, 2024
    Metadata Updated Date July 23, 2025

    Metadata Source

    Harvested from State of California

    Other Data Resources

    Additional Metadata

    Resource Type Dataset
    Metadata Created Date November 27, 2024
    Metadata Updated Date July 23, 2025
    Publisher California Department of Public Health
    Maintainer
    Identifier 616c959b-9fac-4017-9d04-23b9fe3ab105
    Data First Published 2019-03-18T17:57:25.331039
    Data Last Modified 2024-08-29T01:35:25.404173
    Category Health and Human Services
    Public Access Level public
    Metadata Context https://project-open-data.cio.gov/v1.1/schema/catalog.jsonld
    Schema Version https://project-open-data.cio.gov/v1.1/schema
    Catalog Describedby https://project-open-data.cio.gov/v1.1/schema/catalog.json
    Harvest Object Id c8993a1c-b7c4-4006-bb2e-072759f458e3
    Harvest Source Id 3ba8a0c1-5dc2-4897-940f-81922d3cf8bc
    Harvest Source Title State of California
    License http://www.opendefinition.org/licenses/cc-by
    Source Datajson Identifier True
    Source Hash 7917d4955431f6a1109bc8adabfbfc303ad05702ea7b5492c0b09e715fae61fd
    Source Schema Version 1.1

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