Newborn Screening
Newborn screening can save your baby's life or prevent serious brain damage.
Newborn screening is a public health service provided to all newborns in the United States. This screening test helps detect 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 cognitive disabilities and even lead to death. Early treatment often reduces or eliminates the medical problems caused 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.
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. For general information about newborn screening: http://www.babysfirsttest.org/
Every state in the United States and the District of Columbia have established newborn screening programs.
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 this screening program in 1966 with testing for a single disease, phenylketonuria (PKU). In 1980, the program added more conditions and a better follow-up system. In 1990 screening for sickle cell disease was added to the existing program. This new part of the screening program also found other related hemoglobin disorders. California has continued to add new diseases to the testing panel and currently tests for over 70 different disorders. Click here for the list of conditions currently included in the screening program.
To learn more about newborn screening in California: https://www.cdph.ca.gov/Programs/CFH/DGDS/Pages/nbs/default.aspx
How is newborn screening done?
A few drops of blood will be taken from your baby's heel 12 to 48 hours after birth 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 born in the hospital have the test done before going home. Babies not born in the hospital must also have this test.
How do I get results from the newborn screening test?
Your pediatrician will review the newborn screening results at your baby's two-week-visit. If the results are not in the medical record, 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
What happens if my baby has a positive newborn screen?
You will be contacted by telephone or letter if your baby's test result is "POSITIVE". This means that additional testing is needed, but it does not necessarily mean that your baby has the disorder. A follow-up test is done to determine whether or not your baby has the disorder. You are given instructions on how to obtain further testing for your baby.
Depending on the type of follow-up test, it can take from two days to a week or longer for results. You will be told when to expect for results from follow-up testing.
In most cases, newborn screening identifies genetic conditions before any symptoms develop. Prompt and on-going medical care helps babies with these conditions stay their healthiest.
The type of care needed depends upon the specific disorder:
- Metabolic disorders - Babies who have a metabolic disorder will be referred to the Kaiser Regional Metabolic Clinic where they are cared for by a team of specialists. The treatment and monitoring is explained.
- 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 have 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 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.
Last reviewed: January 2020
Reviewed by: Kimberly Barr, MS, LCGC