Metabolism Program

About Newborn Screening

Newborn Screening is a critical, state-mandated testing procedure used to identify potentially life-threatening metabolic disorders in newborns before signs and symptoms of disease begin. This screening test is important because the earlier these disorders are identified, the less likely a child will have long-term problems or irreversible complications.

The Metabolism Program at Children’s Hospital Boston has access to the New England Newborn Screening Program, one of the best Newborn Screening programs in the world. Under this program, every baby born in New England is tested for more than30 genetic, endocrine and metabolic disorders.  PKU screening of the newborn, now conducted throughout the world, began in this program in 1962.

Although screening tests are mandatory in all states, not all states screen for the same disorders. To find a comprehensive list of what disorders your state screens for, visit the National Newborn and Genetics Resource Center.

The process

When the baby is about 2 days old, a small sample of blood is taken from the baby’s heel. This blood sample is put on a special piece of paper and sent to the New England Newborn Screening Program for analysis. If the test results are positive, the baby will be sent to the proper treatment center.

The majority of babies who test positive in New England are sent to the Metabolism Program here at Children’s Hospital. To confirm the diagnosis, we obtain a fresh sample of blood and a urine specimen and send them to our Metabolic  Laboratory. When a positive diagnosis is confirmed, our entire medical team will immediately begin comprehensive treatment.