Routine Screening

What is the purpose of the Newborn Screening Program?
The purpose of the Newborn Screening Program is to test all newborns in Massachusetts for early signs of a number of treatable disorders (as mandated by Massachusetts Department of Public Health Regulations 105 CMR 270.000.)

This web site describes these disorders and explains why your baby needs to be tested.

What is the chance my baby has a disorder detectable by screening?

The chance that your baby will have one of these disorders is very small. In the rare cases when a disorder is found, early diagnosis and treatment can usually prevent the problems associated with these disorders.

Newborn screening tests provide an early opportunity to detect certain disorders before symptoms appear. However, screening tests are not always accurate and may not detect a disorder. In any case, if your baby does not seem well, talk to your baby's doctor as soon as possible.

How are the tests done?

At about 48 hours after birth, or just before your baby is discharged from the hospital, a small blood sample will be taken. Only a few drops of blood are needed. These are taken from your baby's heel.

Important!

Babies born outside of hospitals should also be tested, preferably at about 48 hours after birth. Parents should arrange with a doctor, hospital, or midwife to have the screening done.

Who decides which disorders are included in Newborn Screening?

The Commissioner of Public Health is responsible for deciding the list of disorders. An Advisory Board, made up of doctors, nurses, scientists, ethicists and consumers, advises the Commissioner which disorders to include. For a disorder to be included in the list, the following must be true: 1) the disorder is treatable, 2) there is a good test, 3) early medical intervention would benefit the infant.

May I refuse these tests?

Most states have specific laws regarding newborn screening. In Massachusetts you may refuse for religious reasons. If you do so, you may be asked to sign a refusal form. This form relieves your doctor of liability for damages that result from a disorder that could have been detected by screening.

How are results reported and how would I be notified if my baby needs special care?

Your baby's test results will be reported to the hospital where your baby was born. These reports include results of all routine testing and results of any optional screening your baby had (see section entitled "Research Studies of New Tests") .

In addition, if your baby's test results indicate that further attention is needed (see below), the hospital where your baby was born or your baby's doctor will be notified.

I was called and told that my baby's test needs to be repeated. Does that mean that my baby has a disorder?

Not always. There are several reasons why your baby's doctor may have told you that your baby needs to be retested. Some reasons include:

• Unsatisfactory specimen: There is not enough blood to complete all the required screening tests, or the sample does not work for other reasons.
• "Too Early" specimen: If the blood specimen was collected before your baby was 24 hours old, a second sample should be taken as soon as possible to avoid missing a disorder. The best time for detection is between 24 and 72 hours after birth.
• Abnormal Test Result: An abnormal test result means that a disorder may be present. If the repeat test indicates that further evaluation is needed, your baby's doctor will be called right away. Note: Premature or low birth weight newborns are more likely to have abnormal test results on the first specimen even if a disorder is not present.