Frequently Asked Questions

What is ScreenPlus?

Shortly after birth, all New York babies have a routine newborn screening (NBS) test that checks for more than 50 treatable disorders. ScreenPlus is a study where babies are screened for an additional 14 rare disorders that are not currently on NY’s routine NBS panel. All of the disorders on the ScreenPlus panel have an approved treatment or an investigational therapy that is currently being tested in a clinical trial. ScreenPlus will help us understand how well NBS works for these disorders.

How is ScreenPlus different from routine newborn screening?

Shortly after birth, all New York babies have a routine newborn screening test that checks for more than 50 treatable disorders. ScreenPlus is a study where babies are screened for an additional 14 rare disorders that are not currently on NY’s routine newborn screening panel. ScreenPlus requires parental permission and will help us understand how well newborn screening works for these additional disorders. Click here for more information about the disorders on the ScreenPlus panel.

Who can participate?

Only a few hospitals in NY are ScreenPlus sites. If your baby was born in one of these hospitals, you have the option to participate. Participating is your choice. Your baby will still have routine newborn screening even if you choose not to have the additional testing. Please click here for more information about the pilot hospital sites.

Do you have to take my baby’s blood?

No! The ScreenPlus test will be done on the same blood sample that is taken from your baby’s heel for routine newborn screening.

Does it cost anything?

No! ScreenPlus is being done at no cost to you. If your baby has an abnormal ScreenPlus result, extra testing that may be needed to confirm the result will also be covered by the study.

Will I get results?

Yes. If your baby’s results are normal, they will be available to your pediatrician, and we will not contact you. If your baby has an abnormal result, we will contact you within 3-4 weeks of your baby’s blood sample being taken. A longer wait time does not indicate an abnormal test result.

Will this help my baby?

If your baby has one of the disorders on the ScreenPlus panel, it is helpful to know early, especially if your baby needs treatment. If your baby has negative (normal) ScreenPlus results, it is important for you to know that you have helped us learn about NBS for these disorders, which may help other babies.

What is the chance that my baby has one of the ScreenPlus disorders?

All of the disorders on ScreenPlus are very, very rare, so most people have not heard of them. It is very unlikely (less than a 1% chance) that your baby will have a positive result.

What disorders are on ScreenPlus?

To see the list of disorders that ScreenPlus tests for, click here.

What if the test is positive?

We will contact you if your baby’s ScreenPlus result is positive, within one month after the sample is received by the NBS lab. You will be asked to bring your baby to a local ScreenPlus doctor for more testing to see if he or she really has the disorder. If the answer is yes, then the ScreenPlus doctor will work with you and your pediatrician to take care of your baby.

What are the risks?
  • False positives: Sometimes an NBS test is positive, but more testing shows that the baby does not really have the  disorder. Some parent(s) feel anxious when this happens.
  • False negatives: As with any screening test, there is a chance that ScreenPlus will miss a child who really has the  disorder.
  • Uncertain results: Sometimes it is unclear whether or not the baby really has the disorder, even after more testing. When this happens, the baby’s health care providers keep a close watch on the baby to see if symptoms develop. Some parent(s) feel anxious when this happens.
  • Late onset disorders: Similar to other disorders on NY’s routine NBS panel, some of the disorders on ScreenPlus have severe forms that affect babies, and milder forms that affect older children and adults. If a baby is diagnosed with a disorder that might not occur for many years, some parent(s) may feel anxious.
  • Confidentiality: The ScreenPlus team and the New York newborn screening program work hard to protect your privacy. We keep all your baby’s information in a secure environment and use only secure, approved networks to keep our data. It is never possible to guarantee that the information is completely secure, but we have many strong tools in place to protect your information.
What are the limitations?
  • Carrier Status: Every person carries two copies of most genes. Being a carrier of a genetic disorder means that you have one abnormal copy and one healthy copy of a specific gene, instead of the two abnormal copies needed to have the disorder. People who are carriers typically do not have symptoms of the disorder. Knowing that you are a carrier of a specific disorder may help you make reproductive choices. ScreenPlus is not able to accurately identify carriers, so we will not tell you if your baby is a carrier for one of the disorders on the ScreenPlus panel.
  • Milder forms: ScreenPlus may miss some milder or later onset forms of certain disorders.
  • Other disorders: Because ScreenPlus’ second and third tier testing is specific only to the primary target, and because our screening assays have been validated only for the primary conditions, only the disorders listed on the Conditions Tested page are included in ScreenPlus.
How will you protect my information?

The ScreenPlus team and the New York newborn screening program work hard to protect your privacy. We keep all your baby’s information in a secure environment and use only reliable, approved networks to keep our data. It is never possible to guarantee that the information is completely secure, but we have many strong tools in place to protect your information.

Who has access to my baby’s results and blood sample?

Your baby’s information will be known by the New York State newborn screening team and the ScreenPlus team.

If the ScreenPlus result is abnormal, your baby’s blood sample may be shared with a different ScreenPlus laboratory for extra, “second tier,” newborn screening testing, which is performed to assure the result is as accurate as possible. Depending on the additional testing required, this lab may be located in another state, such as Mayo Clinic in Minnesota or the Gelb Lab at the University of Washington. If we need to send the sample to another lab, all information that might identify your baby will be removed, and the sample will be sent only with a unique Study Number to protect your privacy.

What will happen with the sample after testing is completed?

After the routine NBS and ScreenPlus testing are completed, your baby’s sample will be stored securely at the NY NBS lab, which is normally done for all specimen after routine newborn screening. Retaining samples from newborn screening is important in order to provide families with the option to have further testing conducted for their babies if necessary. For more information about how the NY newborn screening program uses, stores, and secures your baby’s sample, click here. You may arrange to have your baby’s specimen(s) destroyed or excluded from public health research. Click for more information or to download the form needed to honor your written request.

Still have questions about ScreenPlus? Contact us!