Newborn Screening

Newborn screening for metabolic diseases is a vital public health program designed to identify and treat certain genetic and metabolic disorders in infants shortly after birth. The specific criteria for including a disorder in a state's newborn screening program may vary, but typically include:

Serious Health Impact: The disorder must have the potential to cause severe health problems or developmental delays if not detected and treated early.
Prevalence: The condition should have a sufficient incidence rate in the population to justify its inclusion in the screening program.
Effective Treatment: There must be an available and effective treatment or intervention that can significantly improve the health and well-being of affected infants when initiated early.
Reliable Screening Test: A reliable and accurate screening test should be available to detect the disorder in a timely and cost-effective manner.
Understanding of Natural History: A good understanding of the natural history of the disorder is crucial for designing effective screening programs.

The screening process typically involves a blood sample collected from a heel prick shortly after birth, which is then analyzed in a laboratory for specific biomarkers or genetic markers associated with metabolic disorders. Early detection and intervention can prevent or mitigate the development of serious health problems, ensuring a healthier start to life for affected infants. The specific disorders included in newborn screening programs can vary from state to state or country to country, reflecting differences in local healthcare priorities and resources.

Step-by-Step Guide for Parents with a Baby with an Abnormal Newborn Screen

Receive Notification: Upon receiving the news of an abnormal newborn screen, stay as calm as possible. Understand that an abnormal result does NOT definitively diagnose your baby with a disorder but signals a need for further evaluation.
Contact Your Pediatrician: Reach out to your baby's pediatrician promptly to discuss the abnormal result. There are many different disorders included on the newborn screen, it is important to confirm the specific disorder that was flagged.
Confirm the Result: Your pediatrician may arrange for a repeat screening or additional diagnostic tests to confirm the abnormal result.
Prepare Questions: Some people want to wait to meet with a specialist before learning more about the potential disorder, while others want to prepare questions prior to the appointment. If you decide to prepare questions, we recommend Baby's First Test as your first resource.
Consult with a Specialist: If the abnormality is confirmed, your pediatrician may refer you to a specialist, such as a pediatric geneticist or metabolic specialist, who can provide a more detailed evaluation and diagnosis.
Understand the Diagnosis: Work closely with the specialist to understand the specific disorder or condition your baby may have. Ask questions, seek clarification, and request written information about the diagnosis.
Treatment Options: Discuss available treatment options and interventions with the specialist. Depending on the condition, treatment may involve dietary changes, medications, or other medical therapies.
Confirmatory Testing: Collaborate with your healthcare team to order additional testing to confirm if your baby has a genetic condition or not. These tests can include collection blood, urine, or saliva samples.