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).
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, we know that even the best screening cannot always detect a disorder. 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. A few drops of blood are taken from your baby’s heel.
Your baby’s birth hospital then sends the blood samples to the New England Newborn Screening Program. Special tests for small blood samples are done and reported by the Newborn Screening Program.
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 parents, 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, and 3) early medical intervention would benefit the infant.
May I refuse the newborn screening tests for my baby?
In Massachusetts, you may refuse newborn screening 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 can I get information about the results of my baby’s newborn screening tests?
Your baby’s newborn screening results will be reported to the hospital where your baby was born and to the pediatrician who is listed on your baby’s sample. These reports include results of all routine testing and results of any optional screening your baby had.
In addition, if your baby’s test results indicate that further attention is needed (see below), we will notify the hospital where your baby was born or your baby’s doctor.
My baby’s doctor says that I need to bring my baby in because of newborn screening. Does that mean that my baby has a disorder?
Not always. There are several reasons why your baby’s doctor may have asked you to bring your baby in. Some reasons include:
Unsatisfactory specimen: There is not enough blood on the sample sent to us to complete all the required screening tests, or the sample does not work for other reasons. Another specimen is needed.
“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. The best time for detection is at about 48 hours after birth.
Out-of-Range Test Result: An out-of-range test result means that further evaluation is needed to know if your baby has a disorder. Sometimes this means that another specimen is needed, sometimes this means that the baby will have to be seen and tested by a specialist within a few days, and sometimes it means that the baby should be seen by a specialist as soon as possible. Your baby’s doctor will let you know what is recommended.
Note: Premature or low birth weight newborns are more likely to have out-of-range test results on the first specimen even if a disorder is not present.
What is known about the disorders that are included in ROUTINE SCREENING?
We know that the disorders included in Routine Screening are thought to be treatable.
For some of these disorders, there is a good deal of information about the outcomes of babies who have the disorders. This may be because there are many babies with the disorder, or may be because the screening has been in place for many years, or both.
For other disorders, there is enough information to know that babies with the disorder will do better if they are found and treated early, but we do not yet have full information to know what to predict for their future. This may be because there are very few babies with the disorder, or because the screening is new, or because there is a new treatment.
In order to ensure that we can provide the best information for care and for decision-making, the newborn screening program collects information about how the patients with these disorders are doing.
The kinds of information collected depend on the disorder, and includes information about whether the patients are alive and well, and whether they see a specialist regularly. Other information collected helps the newborn screening program to provide knowledge about the disorder to babies’ health care providers and families.