Newborn Screening FAQ

Frequently Asked Questions About Newborn Screening

What is my baby tested for?

Tests are carried out for bilirubin and more than 10 inherited disorders. The most common are Phenylketonuria (PKU), Congential Hypothyroidism, and Medium-chain acyl CoA dehydrogenase (MCAD) deficiency.

What if I leave the hospital before 24 hours?

The ideal time to test for these disorders is 24 hours of age. Early identification is important.  If you decide to leave the hospital before your newborn is 24 hours of age, a blood sample will be taken at that time and you will be asked to return to have another sample taken when your newborn is 24 hours old.

Why should my baby be tested?

Babies with these disorders often appear perfectly normal at birth and are generally from healthy families. These disorders are quite rare, and your baby will not likely have any of them. However, by the time problems arise; permanent damage may already have been done. The safest thing to do is to have your baby tested. If one of the disorders is present your baby can begin treatment immediately.

What if I do not want my newborn screened?

If you choose not to have your newborn screened, a health care provider will meet with you to document this decision in your newborn’s medical record. You will then be asked to sign a form indicating that you met with the health care provider and have decided not to have your newborn screened.

What does it mean if I am called for a repeat sample?

There are several reasons why your newborn’s doctor may have asked to have your baby retested

• Sample was taken before 24 hours of age
• Age of newborn at time of collection was not given
• There was insufficient quality/quantity of blood to perform testing
• Screen positive test result – an initial positive test result does not mean that your baby has a disorder. It does mean that your baby needs further testing to determine whether or not he/she has one of these disorders.

Are there other reasons for a repeat screen?

Certain medications, and blood transfusions interfere with test results.  In these cases, your newborn may have another sample requested after the medication has been discontinued. Premature infants will also be rescreened two weeks after their original screen.

Same sex twins in utero (before being born) may compensate for each other and may screen normal at 24 hours of age. A repeat screen is requested on all same sex twins at two weeks of age.

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