Newborn Screening Disorders, California

This table presents counts of disorders that have been diagnosed by the California Newborn Screening program during the five-year period from 2009 through 2015. Counts of disorders that were <6 were suppressed; these case counts are indicated as blank in the "CA Total" column as indicated in the attached Data Dictionary.

The disorders included are part of the core recommended panel 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 Committee recommends that every state newborn screening program include a uniform screening panel that currently includes 31 core disorders; the Genetic Disease Screening program screens for all of the core conditions excluding newborn hearing loss screening and critical congenital heart disease screening which are programs administered by the Department of Health Care Services. Details of the disorders included in the Recommended Uniform Screening Panel (RUSP) can be found in the attachment: Recommended Uniform Screening Panel.pdf.

Caution must be taken in interpreting this data because there is not a one-to-one relationship between type of screen positive test result and disorder type. One newborn can be screen-positive for more than one disorder. Conversely, a positive screen for one disorder can be associated with a diagnosis of a different disorder. Three types of sickle cell-related hemoglobinopathies (Sickle Beta+ Thalassemia, Sickle S/S Disease and Sickle S/C Disease) were combined into one group called "Sickle Cell Disease".

This dataset updates every year

Data and Resources

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