āProvider action sheet for primary congenital hypothyroidism (PCH)
āPrintable PDF of this Action Sheetā
If the California Newborn Screening (NBS) Program has identified an infant in your care who has a screen-positive result for primary congenital hypothyroidism (PCH):
What steps doā I need to take?
-
Review the California state recommended guidelines for follow up on PCH provided by the Area Service Center (ASC) staff. Confirmatory testing is needed immediately.
-
Consult with a California Childrenās Services Special Care Center (SCC) endocrinology specialist. They will ask for your assessment of the infantās current health status and whether the infant has any signs of the disorder as they help formulate a diagnostic follow-up plan. Further evaluation may be required to make a final diagnosis. If the infant has a diagnosed condition, the SCC will provide clinical follow-up care.
-
Contact the family to explain the positive newborn screening test result. For information on how best to communicate, consult the
Health Resources & Services Administration Newborn Communication Guide (PDF)ā (or search online for āhrsaā āheritableā ācommunicationā)
-
Review the accompanying, āFamily action sheet for primary congenital hypothyroidism (PCH)ā with the family and ensure they understand.
-
Remind the family that their infant was positive on a screen, and it is not diagnostic. Emphasize that you, with ASC staff and the SCC endocrinology specialist, will guide them through the next steps of confirmatory testing and follow-up services.
-
Advise parents to (1) follow the plan for confirmatory testing right away, and (2) keep their infantās appointments with an SCC endocrinology specialist, if any are scheduled. The family should receive services from a multidisciplinary team of specialists, including genetic counseling services.
Clinical information
PCH is an endocrine disorder characterized by absent or decreased thyroid hormones that can affect normal metabolismā, growth, and brain development. Treatment, usually thyroid hormone replacement, should be started within the first week of life to prevent development of intellectual disabilities and/or growth delays.
Please visit these sites. Search for the site name and ācongenital hypothyroidismā if needed.
āQuestions?
For follow-up questions, please call your NBS Program Area Service Center.
For program questions, please email NBS Program staff at
NBS@cdph.ca.govā or visit the
NBS Program website.
California Department of Public Health
Ā© Genetic Disease Screening Program, 8/2023āāāāā