Understanding the Results

My Baby Screened Positive

Approximately 3-4% of babies will screen positive on the GUARDIAN screen. A positive screen means your baby may develop symptoms of the condition. To clarify and better understand the screening results, the study team will complete follow-up testing in the baby and/or parents to make a definitive diagnosis. Only babies with a definitive diagnosis require treatment.

You should go to the follow up appointment in person or via telemedicine with the study genetic counselor and geneticist. During this appointment they will tell you about the condition and review the recommended follow up. They will also evaluate your baby for symptoms of the condition. They may recommend blood tests or other studies to more closely examine your baby. During this appointment, they will discuss these different tests, what they are looking for and what the results mean for your baby.

The study genetic counselor and geneticist will help you to make any follow up appointments and connect you with the medical team who will care for your child.

During this appointment they discuss if there is a risk for your other children or future children to have the same condition.

You may also want to write down questions you have before this appointment to make sure that all of your questions are answered.

Please reach out to the study genetic counselor at [email protected] or 212 851 4818 with any questions or concerns at any time.