Newborn Screening Program Overview - for Parents
Newborn Screening is recognized nationally as an essential preventive health measure. All States in the nation and the District of Columbia have established newborn screening programs. The State of California began it's 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. In July 2005 the Program was expanded to include additional metabolic disorders and congenital adrenal hyperplasia (CAH), and in July of 2007, the Program was expanded to include cystic fibrosis (CF) and biotinidase deficiency (BD). Additionally, starting in August 2010, each newborn has also been screened for Severe Combined Immunodeficiency (SCID).
Disorders screened for by the program have varying degrees of severity. If identified early many of these conditions can be treated before they cause serious health problems. Treatment for metabolic disorders varies by the condition including close monitoring of a person's health, medication, dietary supplements, avoidance of fasting and/or special diets. Treatment for hypothyroidism and CAH includes hormone medication. Detection of sickle cell disease in newborns makes possible early entry into comprehensive care, which includes the initiation of 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. Early detection and treatment for SCID before a baby becomes sick can help a baby survive.
How Are Babies Tested?
Prior to leaving the hospital, a few drops of blood from the newborn's heel are collected on filter paper. Testing of over 16 million babies has established this as a simple and safe test. The sample is sent to one of eight regional laboratories that contract with the State for testing. The laboratories enter demographic data and test results on terminals linked to the Genetic Disease Screening Program central computer in Richmond. This computer is programmed to detect and minimize data entry errors. Laboratory work is subjected to both computerized and manual quality control checks before test results are released.
How Can Parents Get the Results?
Parents can get the test results from the baby's doctor or clinic. It takes about two weeks for the doctor to receive the written results. If the baby needs more tests, parents will get a letter or a phone call a few days after discharge from the hospital. Parents who move soon after their baby is born should make sure that the baby's doctor or the clinic staff has their new address and phone number.
What Happens When a Baby has an Initial Positive Test?
Positive test results are immediately telephoned to a follow-up coordinator at one of the Newborn Screening Area Service Centers throughout the State. The coordinator contacts the newborn's physician to arrange for repeat testing. If repeat testing determines that the baby has a disorder, the coordinator will supply the latest clinical information on diagnosis and treatment and assist with referrals to special care clinics (CCS Metabolic or Endocrine Clinics, Cystic Fibrosis Centers or Sickle Cell/Hemoglobinopathy Centers).
Currently, the cost of the test is $129.25. Medi-Cal, health plans and most private insurance will pay for the test.
Information about the storage and use of my baby's leftover dried blood spot
How Common are These Disorders in California?
Video: One Foot at a Time
Test Refusal Form