Welcome to the State of California 

California Newborn Screening Program

Important Notice for Parents Whose Babies Have an Initial Positive Screen on a Newborn Screening Test for:

 

Phenylketonuria (PKU)

If you are a parent and are told that your baby had an initial positive screen for PKU, it does not necessarily mean your baby has PKU. The ability to use phenylalanine (phe) normally improves over the first weeks of life. However, you must return with your baby to either the baby’s doctor or the hospital’s laboratory and have a second blood sample collected from your baby. While you are waiting for the test result, you should continue to breastfeed or use infant formula for your baby. Do not use the PKU special formula until your baby has been diagnosed with PKU and your baby’s doctor instructs you to start feeding the special formula to your baby. You should always consult your baby’s doctor regarding your baby’s health, well-being, and safety.

Galactosemia

If you are a parent and are told that your baby had an initial positive screen for Galactosemia, it does not necessarily mean your baby has Galactosemia. However, you must return with your baby to either your baby’s doctor or the hospital’s laboratory and have a second blood sample collected from your baby. While you are waiting for the test result, you should follow your baby’s doctor’s directions about what formula to feed your baby.

Primary Congenital Hypothyroidism

If you are a parent and are told that your baby had an initial positive screen for Primary Congenital Hypothyroidism, it does not necessarily mean your baby has this condition. However, additional testing is needed. Your doctor will provide you with information on where you will need to take your baby for a second blood test and/or other testing. The doctor may begin treatment for the baby and/or ask you to take the baby to a medical specialist. Call your baby’s doctor if you have any questions or concerns about your baby. 

Sickle Cell Disease

You will be contacted by your baby’s doctor or the Newborn Screening Coordinator to return to the doctor’s office or the hospital’s lab.  The baby will have a blood sample drawn to determine what type of sickle cell disease the baby has. One or both parents will also be asked to have a blood sample drawn for testing, to help make the diagnosis. The doctor may begin treatment for the baby and/or ask you to take the baby to a medical specialist. Call your baby’s doctor if you have any questions or concerns about your baby.

Hemoglobin H Disease

You will be contacted by your baby’s doctor or the Newborn Screening Coordinator to return to the doctor’s office or hospital’s lab. The baby will have a blood sample drawn to determine what type of hemoglobin H disease the baby has. One or both parents will also be asked to have a blood sample drawn for testing, to help make the diagnosis. The baby’s doctor may ask you to take the baby to a medical specialist. Make sure your child does not come into contact with mothballs or fava beans. Call your baby’s doctor if you have any questions or concerns about your baby.

Beta Thalassemia Major

You will be contacted by your baby’s doctor or the Newborn Screening Coordinator to return to the doctor’s office or hospital’s lab. The baby will have a blood sample drawn to determine what type of beta thalassemia disease the baby has. One or both parents will also be asked to have a blood sample drawn for testing, to help make the diagnosis. The baby’s doctor may ask you to take the baby to a medical specialist. Call your baby’s doctor if you have any questions or concerns about your baby.

Hemoglobin C, D, CE, DE, DC, etc.

You will be contacted by your baby’s doctor or the Newborn Screening Coordinator to return to the doctor’s office or hospital’s lab. The baby will have a blood sample drawn to determine the exact type of hemoglobin condition. One or both parents will also be asked to have a blood sample drawn for testing, to help make the diagnosis. The baby’s doctor may ask you to take the baby to a medical specialist. The doctor or specialist will discuss the test results with you, and tell you about any health problems the baby might have. The doctor will also discuss how to care for the baby, and any treatment that may be needed. Call your baby’s doctor if you have any questions or concerns about your baby.

 
 
Last modified on: 8/24/2010 2:03 PM