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.
Data files
| Data title and description | Access data | File details | Last updated |
|---|---|---|---|
Screening Disorders by California Region This table presents counts of disorders that have been identified by the California Newborn Screening Program from 2009 through 2019. Disorders with counts fewer than 6 were suppressed; these disorders are listed as blank in the "Case Count" column as described in the attached Data Dictionary. For details of the disorders, please refer to the attachment: Recommended Uniform Screening Panel.pdf. For details of how the regions are broken down by California counties see attachment: California Regions Break-Out by County.xlsx. 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. | Download | CSV | 11/12/24 |
Screening Disorders by Race/Ethnicity This table presents the disorders identified by the California Newborn Screening Program from 2009 through 2019. The counts of disorders are presented by race/ethnicity groups. The disorders included are part of the Recommended Uniform Screening Panel (RUSP) put forth by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) established under the 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. Counts were suppressed for disorders with fewer than 6 cases statewide. 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. | Download | CSV | 11/12/24 |
Screening Disorders Statewide This table presents counts of disorders that have been identified by the California Newborn Screening Program from 2009 through 2019. Counts were suppressed for disorders with fewer than 6 cases statewide; these show as blank in the "Disorder Count" column as described in the Data Dictionary. | Download | CSV | 11/12/24 |
All resource data | Download | ZIP | 11/12/24 |
Supporting files
| Data title and description | Access data | File details | Last updated |
|---|---|---|---|
Recommended Uniform Screening Panel (RUSP) The disorders included on the Recommended Uniform Screening Panel (RUSP) are put forth by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) established under the 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 identifies 33 core disorders. The Genetic Disease Screening program screens for all of the core conditions except Spinal Muscular Atrophy (SMA); screening for SMA will begin in 2020. Screening for newborn hearing loss and critical congenital heart disease are programs administered by the Department of Health Care Services. Details of the disorders included in the RUSP can be found in the attachment: Recommended Uniform Screening Panel.pdf. | Download | PDF | 11/12/24 |
Screening Disorders by Region-Data Dictionary | Download | XLSX | 11/12/24 |
California Regions-break out by County | Download | XLSX | 11/12/24 |
Screening Disorders by Race/Ethnicity-Data Dictionary | Download | XLSX | 11/12/24 |
Screening Disorders Statewide-Data Dictionary This table describes the variables in the data table Newborn Screening Disorders in California. | Download | XLSX | 11/12/24 |