California Newborn Screening Program
Newborn Screening Program Overview
Newborn Screening is recognized nationally as an essential preventive public health measure. All states in the nation and the District of Columbia have established newborn screening programs. The California Newborn Screening Program, which now screens for 80 conditions, began in 1966 with the testing for phenylketonuria (PKU). In October 1980, the program was expanded to include galactosemia, primary congenital hypothyroidism, and a more comprehensive follow-up system. In 1990, screening for sickle cell disease was added to the State's existing program. This also allowed for the identification of some of the related non-sickling hemoglobin disorders, including Beta0 Thalassemia major, and Hb E-Beta Thalassemia. In 1999, the Program implemented screening for hemoglobin H and hemoglobin H - Constant Spring disease. In 2005, the Program expanded to include congenital adrenal hyperplasia (CAH) and metabolic disorders detectable by MS/MS screening. Cystic fibrosis (CF) and biotinidase (BD) deficiency were added in 2007. Additionally, starting in August 2010, each newborn has also been screened for Severe Combined Immunodeficiency (SCID).
Informing Parents of the Test
State regulations (17 CCR 6504 and 6504.2) require that birth attendents and perinatal licensed health facilities give pregnant women informational material about the newborn screening program. Important Information for Parents about the Newborn Screening Test (IIP), The California Newborn Screening Program supplies copies of this pamphlet at no cost to all health professionals who serve maternity patients, to hospitals that provide maternity and/or newborn care, to local health departments, and county birth registrars.
How to Order Important Information for Parents
Over 99% of the babies born in California are screened. The actual sample of newborn blood is obtained ideally between 12 - 48 hours of life by a heel-stick. State regulations require that the sample be collected by the 2nd day of life, and prior to a red blood cell transfusion. To decrease the chances of a false positive (requiring additional testing) or false negative (resulting in a missed case), the State strongly recommends delaying collection on healthy full term infants until at least 12 hours of age. If for any reason (e.g., transfusion, discharge earlier than 12 hours or hospital error) the specimen is collected prior to 12 hours, a second specimen will be required.
The blood sample is collected on special filter paper, and transported to a pre-assigned regional screening laboratory approved by the State for testing. These State-contract Newborn and Prenatal Screening (NAPS) laboratories review each specimen for adequacy. Fewer than 1% of the samples are deemed inadequate (i.e., unacceptable) by the NAPS laboratories. The newborn’s physician is notified of all inadequate samples. It is the physician’s responsibility to ensure that a second specimen is collected in a timely manner. The Area Service Centers track all inadequate specimens and positive specimens to ensure a subsequent adequate specimen or confirmatory testing is obtained.
Specimen Collection Procedure
When to Collect Specimens
Infants Requiring Transfusions
Test Request Form
Follow-up of Initial Positive Screening Results