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Newborn Screening Program
Overview
Newborn screening is a public health service provided to all newborns in every state in the U.S. It’s a simple, safe, and reliable blood test that’s done before your baby leaves the hospital. Screening helps us find serious but treatable conditions, often before a baby has any symptoms. Early treatment can reduce or prevent serious health problems from developing in a baby. Left untreated, some conditions can cause severe disabilities and may even lead to death.
Your obstetrician or other member of your prenatal care team will talk to you about the test and how it’s done. They’ll give you information about newborn screening. When you come to the hospital to have your baby, you’ll be given a booklet about newborn screening so you'll know what to expect during the test.
Newborn screening in California
The California Department of Health Services Genetic Disease Branch established the Newborn Screening Program to provide newborn screening for all babies born in California. The state of California began the screening program in 1966 with testing for a single disease, phenylketonuria (PKU). Since then, the program has expanded and now screens for over 80 different conditions, including cystic fibrosis, sickle cell anemia, and spinal muscular atrophy. Learn which conditions are included on the California Newborn Screening test.
How the Test Is Done
The newborn screening test is usually done between 12 and 48 hours after the baby’s born. A few drops of blood are taken from the baby’s heel and put on special filter paper called a “blood spot collection card.” The card is sent to a state-approved laboratory for testing. Babies born in the hospital have the test before going home. Babies not born in the hospital must also have this test.
Results
Newborn screening test results are usually available within a few weeks. Normal results are documented in your child’s medical record. You can ask your child’s pediatrician to review the results with you if you want to know more.
If the test shows a "screen positive" result for a medical condition, you’ll be contacted right away by phone or letter. A screen positive result doesn’t necessarily mean that the child has the condition. Further testing is needed. Your child’s doctor or a specialist will discuss additional testing with you and let you know when to expect results.
Treatment
In most cases, newborn screening identifies conditions before any symptoms develop. Prompt and ongoing medical care helps babies with these conditions stay their healthiest. Babies born with one of these conditions are referred to experts who specialize in that disorder. For example, babies who have:
- Metabolic disorders will be referred to the Kaiser Permanente Regional Metabolic Program.
- Endocrine disorders will be referred to a pediatric endocrinologist. Examples of these conditions include primary congenital hypothyroidism and congenital adrenal hyperplasia.
- Hemoglobin disorders will be referred to a pediatric hematologist who specializes in treating children with inherited blood diseases, like sickle cell anemia.
- Cystic fibrosis will be referred to our cystic fibrosis clinic where they will be cared for by a team of specialists, including a pediatric pulmonologist.
- Severe combined immunodeficiency (SCID) will be referred to a pediatric infectious disease specialist.
- Spinal muscular atrophy (SMA) will be referred to a pediatric neurologist.
Additional References
Disclaimer
If you have an emergency medical condition, call 911 or go to the nearest hospital. An emergency medical condition is any of the following: (1) a medical condition that manifests itself by acute symptoms of sufficient severity (including severe pain) such that you could reasonably expect the absence of immediate medical attention to result in serious jeopardy to your health or body functions or organs; (2) active labor when there isn't enough time for safe transfer to a Plan hospital (or designated hospital) before delivery, or if transfer poses a threat to your (or your unborn child's) health and safety, or (3) a mental disorder that manifests itself by acute symptoms of sufficient severity such that either you are an immediate danger to yourself or others, or you are not immediately able to provide for, or use, food, shelter, or clothing, due to the mental disorder.
This information is not intended to diagnose health problems or to take the place of specific medical advice or care you receive from your physician or other health care professional. If you have persistent health problems, or if you have additional questions, please consult with your doctor. If you have questions or need more information about your medication, please speak to your pharmacist. Kaiser Permanente does not endorse the medications or products mentioned. Any trade names listed are for easy identification only.