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 State of California began its Newborn Screening Program 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.

Very early detection permits the metabolic disorders PKU and galactosemia to be treated with a diet, and hypothyroidism with thyroid hormones, thus preventing the development of mental retardation and other severe health problems. Detection of sickle cell disease in newborns makes possible early entry into comprehensive care, which includes the initiation penicillin prophylaxis and parent education (e.g., identification of early warning signs and preventive health measures), factors which have been shown to reduce morbidity and mortality. Early detection of thalassemia disorders allows for close monitoring for infections and anemia. Ongoing health care and close monitoring help children with hemoglobin disorders stay as healthy as possible.

Informing Parents of the Test

State regulations (17 CCR 6500) require that prenatal care providers give pregnant women informational material about the newborn screening program. Because some women do not receive prenatal care, the same informational material, Important Information for Parents about the Newborn Screening Test (IIP), is also distributed upon admission to a licensed perinatal health facility for delivery. 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.

Over 99% of the babies born in California are screened. The actual sample of newborn blood is obtained before the sixth day of life by a heel-stick. State regulations require that the sample be collected at discharge, prior to a red blood cell transfusion, or for infants with extended hospital stays, on the sixth day of life. 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 mailed 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 inadequates to ensure a subsequent adequate specimen is obtained.

Specimen Collection Procedure
Inadequate Specimens
When to Collect Specimens
Infants Requiring Transfusions
Test Request Form
Completing Demographic Information on the NBS Specimen Collection Form
Follow-up of Initial Positive Screening Results
Follow-up of Inadequate Tests
Follow-up of Confirmed Positive Screening Results
Results Reporting
Recall/Confirmatory Testing
Ensuring Testing of All Infants
Information for County Birth Registrars
Reference Ranges (PDF)  
Forms
Frequently-Asked Questions