Newborn screening helps find babies who have serious diseases but may seem healthy at birth. When these diseases are found early in life, treatment can help prevent health and developmental problems and in some cases, death.
A “screen positive” result does not mean that a baby has the disease. It means that the baby has a higher chance to have the disease and that more testing is needed to find out for sure.
What happens when a baby screens positive on the newborn screening blood test?
When a baby's blood sample is screen positive for a disease, the health care providers at Newborn Screening Ontario (NSO) refer the baby to specialized follow-up clinics in their region. We call these centres "regional treatment centres". The treatment centre will arrange more testing to find out whether the baby has the disease.
Health care providers at the regional treatment centres will contact the baby’s doctor, midwife, nurse practitioner, or parents to inform them of the results. They will also arrange appointments and tests that are required to find out if the baby has the disease.
Once testing and evaluation are complete, specialists at the regional treatment centre will determine whether the baby has the disease or not. Three possible outcomes of diagnostic testing include: