Newborn Screening Disorders

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.

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.

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.