Newborn screening can save your baby's life or prevent serious brain damage.
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 purpose of newborn screening is to identify treatable disorders before they cause serious health problems in a baby. Most of the conditions are not easily recognized at birth without testing. If left untreated, some disorders can cause mental retardation and even lead to death. Early treatment can often reduce or eliminate some of the medical problems cause by these conditions.
The newborn screening test is a simple, safe and reliable blood test that will be done before your baby leaves the hospital. A few drops of blood are taken from the baby's heel and put on special filter paper. The blood is then sent to a state approved laboratory for testing. The test should be done when the baby is at least twelve hours old but no later than four days old. Babies not born in the hospital must also have this test.
Your obstetrician, nurse practitioner, or prenatal health educator will give you a booklet explaining the Newborn Screening Program during your pregnancy. The booklet will be given to you a second time when you are admitted to the hospital for your baby's delivery. This allows you to become familiar with the program before your baby is born.
To watch a video about newborn screening: http://savebabies.org/video_cc.html
For more information about newborn screening visit: http://www.babysfirsttest.org/
The Newborn Screening Program was established by the California Department of Health Services Genetic Disease Branch to provide newborn screening for all babies born in California. The state of California began its Newborn Screening Program in 1966 with testing for a single disease, phenylketonuria (PKU). In 1980, the program was expanded to include galactosemia and primary congenital hypothyroidism, as well as 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 hemoglobin disorders. California has continued to add new diseases to the testing panel and currently tests for over 70 different disorders.
Examples of conditions detected by the California Newborn Screening Program:
For more information about the California Newborn Screening Program and a complete list of the detectable disorders visit the California Department of Health Services Newborn Screening Program website.
A few drops of blood will be taken from your baby's heel after 12 hours of age, as close to hospital discharge as possible, but no later than the sixth day of life. The test is simple and safe. The blood is dropped onto laboratory filter paper completely filling five spots
When you bring your baby to the Kaiser pediatric clinic for the two-week-check-up, the newborn screening test results should be in your baby's medical record. If the results are not available, the clinic staff can call the Kaiser Newborn Screening Office to get the results.
Kaiser Permanente Newborn Screening Program Office
Phone: (510) 752-6192
Fax: (510) 752-6921
You will be contacted by telephone or letter if your baby's test result indicates that additional testing is needed.
The California Department of Public Health Genetic Disease Laboratory sets a specific value for each disorder, which determines a negative or positive result. If your baby has a positive newborn screen, it does not necessarily mean that your baby has the disorder. A second or confirmatory test will be needed to determine whether or not your baby has the disorder. Instructions will be given to you about how to obtain further testing for your baby.
Depending on the type of confirmatory test, it can take from two days to a week or longer for results. When you are contacted to bring your baby in for the test, you will be told how long you will need to wait for results.
What kind of medical care will my baby need if he or she has one of these conditions?
The type of care needed depends upon the specific disorder:
Metabolic disorders - Babies who are found to have a metabolic disorder will be referred to the Kaiser Regional Metabolic Clinic where they will be cared for by a team of specialists. The treatment and monitoring will be explained. Both children and adults are followed in the clinic.
Endocrine disorders - Babies with primary congenital hypothyroidism and congenital adrenal hyperplasia are referred to and followed by a pediatric endocrinologist, who specializes in caring for babies and children with this kind of disorder.
Hemoglobin disorders - Babies who test positive for an inherited blood disease (hemoglobin disorder) will be referred to a pediatric hematologist, who specializes in treating children with disorders of the blood.
Cystic fibrosis - Babies who are found to have cystic fibrosis will be referred to a cystic fibrosis clinic where they will be cared for by a team of specialists including a pediatric pulmonologist.
Remember that in most cases, newborn screening identifies infants with these disorders before any symptoms develop. Prompt and on-going medical care helps these babies stay their healthiest.
Last reviewed: January 11. 2013
Reviewed by: Kathleen Fergus, MS, LCGC and Kimberly Barr, MS, LCGC