Frequently Asked Questions
Who can participate?
Babies who are born at Mount Sinai Medical Center, Elmhurst Hospital Center, NYU Langone Medical Center, and Maimonides Medical Center, are being offered the opportunity to be screened for four additional diseases, Fabry, Gaucher, Niemann-Pick, and Mucopolysaccharidosis (MPS I), as part of their newborn screening. The testing for these diseases will be done at the Newborn Screening Program in Albany, along with the baby’s routine newborn screen test. This testing will be done on blood that was already obtained from the baby’s heel for the routine newborn screening test.
What will happen to my baby if I choose the additional testing?
Your baby will be tested for four additional diseases. Please note that no extra blood will be taken from your baby. These additional tests will be performed on blood that was already taken from your baby’s heel for routine screening.
What will happen if my baby tests positive for an additional test?
If your baby tests positive for an additional test, you will be contacted immediately by your doctor. You will be asked to bring your baby to Mount Sinai Hospital, where doctors will examine your baby and check to see if he or she really has the disease. These doctors are specialists at diagnosing and treating patients with Fabry, Gaucher, Niemann-Pick and MPS I diseases.
Will I know for sure if my baby has one of the diseases?
We expect that we will be able to tell you for certain if your baby truly has, or does not have, one of the diseases after the Mount Sinai visit. However, there is a slight chance that the results might be unclear even after the Mount Sinai visit. In that case, the Mount Sinai doctors will work with your pediatrician to follow your baby.
What if my baby has one of the diseases?
The doctors at Mount Sinai Hospital will work with your pediatrician to take care of your baby. Treatment is available for some of these diseases.
How much will this cost me?
The additional testing is provided at no cost to you.
If your baby has a positive screen for one of these diseases, you will bring him or her to Mount Sinai to see if he or she really has the disease. This first visit, and the testing from the visit will be provided at no cost to you.
If the repeat testing shows that your baby truly has one of the diseases, then you/your insurance will be responsible for the medical care and treatment. If your baby does not have insurance, a social worker will help you get it.
What are the possible benefits of the additional testing?
If your baby has one of the diseases on the additional test, it is helpful to know as early as possible. If your baby’s additional testing is negative, then there is the benefit of knowing that you have helped other babies.
What are the possible risks of the additional testing?
Although it is unlikely that your baby will have an abnormal test, some parents feel very nervous and stressed about it, even if the repeat testing is normal. This is inconvenient and may be a source of anxiety for you.
When will I find out the results?
You will be notified by the time your baby is between 5 and 10 days old if the result is abnormal. If your baby’s additional screening test is normal, you will not be notified. Your pediatrician can always check with the New York State newborn screening program if you have any questions.
Do I have to participate?
No. After your baby is born, you will be asked whether you wish to take advantage of this additional newborn screen. If you decide that you do wish to participate in the additional program, please tell your nurse or study coordinator. Your decision will be recorded on the routine newborn screening card. On our brochure, we have also provided a space for you to fill in your name, your child's date of birth, and your hospital room number, informing us that you'd like your baby screened for these additional diseases. Make sure you place this brochure with your information into the locked drop box, which will be by the birth certificate box near the nurse’s station. The only people who can unlock this box are members of the study team.
If you choose “yes,” then a “yes” sticker will be placed on the card, and the specimen will be tested for the routine and the additional disorders. If you choose “no”, your baby will still have all the benefits of the routine newborn screening.
What about my privacy?
New York State’s Newborn Screening team will know your baby’s name, date of birth, contact information, and results as part of the routine newborn screen. If the results from the additional screen are abnormal, doctors from Mount Sinai will receive this information, so they can contact you to bring your baby in for evaluation. Your baby’s sample will be kept with a unique ID number and all identifiable information will be stored separately. Your legal protections and their limitations are described in the Health Insurance Portability and Accountability Act (HIPAA) form. You will have to verbally agree to this and will be given a copy of this form.
How can I have my baby’s sample destroyed?
As described in the Routine Newborn Screening Pamphlet, you may arrange to have your child’s specimen(s) destroyed or prevented from being used in public health research by calling 518-473-7552.
Pilot Newborn Screening Program
Principal Investigator, Dr. Melissa Wasserstein
One Gustave L. Levy Place
New York, NY 10029
Research Program Manager